Heart & Blood Vessels

As a parent, you know that life is full of cause-and-effect scenarios: If you don’t go to work, then you can’t pay the bills. If you ignore that sound the car is making, then you could end up on the side of the road with engine trouble.

Unfortunately, this concept is often a little harder for kids to grasp. They tend to live in the present and don’t think too much about long-term consequences. Usually this works out just fine because you are there to offer support and, when necessary, a safety net.

But when it comes to your kids’ health, there are some long-term consequences you may not even realize they’re up against. One of the best examples of this is a condition called metabolic syndrome.

About Metabolic Syndrome

Not to be confused with metabolic disease (which happens when hormones and other chemicals in the body don’t work together properly), metabolic syndrome describes a cluster of risk factors that put kids on the road to heart disease and type 2 diabetes.

Kids with metabolic syndrome have at least three of these risk factors:

• excessive belly fat
• high blood pressure (hypertension)
• abnormal levels of blood fats (lipids), including cholesterol and triglycerides
• hyperglycemia (high blood sugar)

You might be surprised to learn that these are problems kids can have. After all, high blood pressure and high cholesterol are usually things older people grumble about.

Not so anymore. Thanks to the rising obesity epidemic in young people, kids and teens are getting these conditions — and they’re getting them earlier than ever before. Some estimates say that nearly 1 in 10 teens — and over a third of obese teens — have metabolic syndrome. And a study of 375 second- and third-graders found that 5% had metabolic syndrome and 45% had one or two risk factors for it.

This is something parents should know about, especially because they can take steps to lessen their kids’ chances of developing metabolic syndrome or the risk factors that lead to it.

Causes

Because it’s a precursor to heart disease and type 2 diabetes, metabolic syndrome (also called dysmetabolic syndrome or syndrome X) is brought on by the same problems that cause those diseases. So, having a diet that’s high in calories and low in nutrients and consuming lots of fast food and sweetened beverages can put kids at risk.

Playing video games for most of the day or sitting in front of the computer and not getting enough (or any) exercise also can increase a child’s chance of developing factors like obesity, high LDL (“bad”) cholesterol, hypertension, and high blood sugar that define metabolic syndrome.

The risk of developing the condition appears to be highest around puberty. That may be because body fat, blood pressure, and lipids are all affected by the hormones that bring about the many changes of puberty.

Kids who have a family history of heart disease or diabetes are at greater risk for metabolic syndrome. But, as with many things in life, the lifestyle habits a child adopts can push things in one direction or another. So kids who are active, fit, and eat a lot of fruits and vegetables may drastically decrease their chances of developing metabolic syndrome — even if a close relative already has it.

Effects

Metabolic syndrome itself often has no noticeable symptoms early on. But when its risk factors are left to snowball for too long, major changes may start to develop in the body, such as:

• Arteriosclerosis. This happens when cholesterol hardens and begins to build up in the walls of arteries, causing blockages that can lead to high blood pressure, heart attack, and stroke.
• Poor kidney function. The kidneys become less able to filter toxins out of the blood, which can also increase the risk of high blood pressure, heart attack, or stroke.
• Insulin resistance. This occurs when the body’s cells don’t respond to insulin (the hormone that helps to regulate sugar in the blood) normally, and that can lead to high blood sugar levels and diabetes.
• Polycystic ovarian syndrome. Thought to be related to insulin resistance, this disorder involves the release of extra male hormones by the ovaries, which can lead to abnormal menstrual bleeding, excessive hair growth, acne, and fertility problems. It is also associated with an increased risk for obesity, hypertension, and — in the long-term — diabetes, heart disease, and cancer.
• Acanthosis nigricans. A skin disorder that causes thick, dark, velvet-like patches of skin around the neck, armpits, groin, between the fingers and toes, or on the elbows and knees.

Diagnosis

For a diagnosis of metabolic syndrome, a child must have at least three of the four risk factors. The most common risk factors in teens are hypertension and high LDL cholesterol. However, even when just one risk factor is present, a doctor will likely check for the others. This is especially true if a child is overweight, has a family member with type 2 diabetes, or has acanthosis nigricans.

These exams and tests can help doctors make a diagnosis of metabolic syndrome:

• Body mass index (BMI) and waist measurement. By calculating someone’s BMI and checking for extra weight around the middle, doctors can judge if these problems are likely to have a negative effect on health. A waist measurement at or above the 90th percentile for a child’s age and sex would be considered a risk factor.
• Blood pressure. Blood pressure is the force the blood exerts against the blood vessel walls as the heart pumps. When this force is at or above the 90th percentile for a child’s age and sex, it is considered a risk factor.
• Blood tests, including:
  • Lipid profile. This test measures the levels of fats in the blood. Having low levels of good cholesterol (HDL) and high levels of bad cholesterol (LDL) or triglycerides would be considered a risk factor.
  • Fasting glucose. The fasting blood glucose test measures the amount of glucose in the blood after an 8-hour fast. After several hours without eating, a healthy person’s blood glucose level should not be higher than a certain level. A glucose level higher than this could be a risk factor.
  • Insulin. A blood insulin test may also be performed in some cases as part of a check for insulin resistance.

Diagnosing metabolic syndrome in kids and teens can be a little bit like trying to hit a moving target. That’s because as kids’ bodies change and grow, the cutoff numbers for many of these tests change too. To standardize some of this information, doctors use special charts (a lot like growth charts) to plot where a child’s numbers fall according to his or her age, sex, weight, and height. This also helps them follow the child’s progression over time.

Treating Risk Factors

If your child is diagnosed with metabolic syndrome, it does not necessarily mean that he or she will develop heart disease or diabetes, but the chances are increased — especially if the risk factors involved aren’t improved or eliminated.

For some kids, a lifestyle change may be enough to reduce the risk for serious disease. A doctor may recommend:

• Dropping excess pounds. If your child is overweight, even a moderate amount of weight loss can translate to big improvements in blood pressure, blood lipid levels, and the body’s ability to use insulin.
• Getting more exercise. By taking just one of those hours spent in front of a screen each day and spending it on something that gets the blood flowing, kids can dramatically improve their blood pressure, cholesterol, and sensitivity to the effects of insulin.
• Eating mindfully. A child who learns to see food as fuel and not emotional compensation can start to make better choices at mealtime — for example, selecting complex instead of simple carbs (such as whole-grain instead of white bread, and brown rice instead of white); increasing fiber intake with more beans, fruits, and vegetables; choosing “healthy” fats like olive oil and nuts; and avoiding too many empty calories from soda and sweets.
• Fiber supplements. If your child might not be getting enough fiber through food, a fiber supplement may provide an added boost to help reduce the amount of LDL cholesterol in the blood.
• Not smoking. No surprise here — it’s just about the worst thing people can do to their heart and lungs. Either alone or in combination with metabolic syndrome risk factors, smoking greatly increases your child’s risk for developing heart disease.

When lifestyle changes aren’t enough, a child may be prescribed medications to treat individual risk factors. So, kids with high blood pressure might be put on antihypertension drugs. Others with high LDL cholesterol might be prescribed statins or other lipid-lowering drugs. Children with high blood sugar, who are on the brink of developing diabetes, may be given medication to decrease insulin resistance.

While bariatric surgery for weight loss is not yet approved by the U.S. Food and Drug Administration (FDA) in kids, some teens with morbid obesity or those who are obese and have developed heart disease or diabetes may be candidates for the procedure.

Changing Course

Here’s a great thing kids can learn about cause-and-effect: they have the power to positively influence many health outcomes. Eating right and staying active are two ways they can help ensure a healthier tomorrow.

Of course, it’s easier for kids to make better choices if they see their parents doing the same. So make a plan to help your entire family choose a new, healthier direction. After all, getting a late start on the right path beats staying on the wrong one.

About Mitral Valve Prolapse

Mitral valve prolapse (MVP) is a very common heart condition. It happens when one of the heart’s valves doesn’t work properly.

MVP can be frightening because it involves the heart and can occur with sharp chest pain, but it is not a critical heart problem.

Because MVP often doesn’t cause symptoms or interfere with everyday life, in many cases it isn’t diagnosed until adulthood. But with kids who are diagnosed, it’s important to know what symptoms can go with MVP, so you can distinguish them from signs of any other more serious heart issues.

What Is the Mitral Valve?

To understand mitral valve prolapse, it’s helpful to review some basics about the way a healthy heart works.

• The heart is made up of four distinct chambers: two atria (the two upper chambers) and two ventricles (the two lower chambers).
• During circulation, blood flows from all over the body into the heart’s right atrium.
• From there, the blood travels to the right ventricle, which pumps the blood to the lungs to receive oxygen.
• Once the blood has been infused with oxygen, it returns from the lungs to the heart’s left atrium.The oxygen-rich blood then passes into the left ventricle, which pumps it out to the body through a large blood vessel known as the aorta.

Where Is The Mitral Valve?

The mitral valve sits between the left atrium and the left ventricle and helps control the flow of blood as it passes from the left atrium into the left ventricle. The valve has two flaps of tissue — known as leaflets — that open and close together like a pair of swinging doors. Each time the heart beats, the left ventricle pumps blood out to the body and the flaps of the mitral valve swing shut to prevent the blood in the ventricle from flowing backward into the left atrium.

In cases of MVP, one or both of the mitral valve’s leaflets may flop back and bulge into the atrium when they are shut, a bit like a balloon. This may happen because one of the flaps is abnormally shaped or a little too big.

Sometimes, when the flaps do not close evenly, blood can leak back into the left atrium. This is called mitral regurgitation. In all of us, a tiny amount of mitral regurgitation may be normal. When there is more than a little leakage, the doctor may hear a whooshing sound — a heart murmur — between the normal lub-dub sounds of the heartbeat. (Because of these sounds, MVP is sometimes called click-murmur syndrome, floppy valve syndrome, or balloon mitral valve.)

In most cases, the cause of MVP is unknown. Sometimes kids are born with the condition. In other cases, it develops after some sort of inflammatory condition, like endocarditis (infection of the inner lining of the heart) or rheumatic fever (inflammation that can affect the joints and the heart).

MVP may be diagnosed in people who have other health conditions that affect the body’s connective tissues, such as Marfan syndrome. Some research has shown that kids with MVP might be more likely to also have an arrhythmia, an irregular heartbeat.

Signs and Symptoms

Many people with MVP have no symptoms and no complaints. In some cases, though, the flaps of the mitral valve make a clicking sound when they close, like when you flick or snap a towel, and it is simply called a “click.” A doctor might be able to hear this noise when listening to the heart with a stethoscope and discover MVP that way.

Someone who has MVP and mitral regurgitation also may have a heart murmur, the sound caused by some blood moving backward into the left atrium. When a click and murmur are heard together, the click happens first (as the flaps close and flop back), followed by the murmur (the noise of the whirling blood as it leaks back into the atrium through the improperly closed valve).

Kids with MVP might have:

• dizziness or lightheadedness
• fatigue
• shortness of breath or trouble breathing after exertion
• a feeling that the heart is skipping beats or beating very quickly
• chest pain that comes and goes

The chest pain is often described as sharp but can vary from person to person. And it isn’t always clear whether chest pain in kids is caused by the MVP or by something else, such as stomach reflux.

Chest pain in kids is not usually dangerous. However, call your doctor if your child has chest pain that:

• consistently occurs during physical exertion (exercise or sports)
• creates pressure and a crushing sensation
• occurs with other symptoms (palpitations that last more than a few seconds, dizziness, fainting, or shortness of breath)

Diagnosis and Treatment

In most cases, MVP is diagnosed during a routine exam when a doctor listens to the heart with a stethoscope and hears a different sound. If the doctor hears a click or a murmur that indicates MVP, he or she may refer your child to a pediatric cardiologist, a doctor who specializes in diagnosing and treating heart conditions in kids.

The cardiologist will do a thorough physical exam and listen to the heart. Then he or she may order tests — including an echocardiogram (echo) and an electrocardiogram (EKG or ECG) — to find out what’s causing the sound. An echo uses sound waves to create a picture of the heart and its blood flow, and an EKG records electrical activity produced by the heart. If a child has MVP, the bulging valve flaps will probably be seen on the echo when the heart beats.

Kids who are diagnosed with MVP won’t need medical treatment. In some cases where MVP causes significant regurgitation, doctors may prescribe blood pressure medication to control how hard the heart muscle works. (With blood leaking back into the atrium, the heart works harder to pump the normal amount of blood out to the body.)

A child who has an arrhythmia (an abnormal heart rhythm) in addition to MVP may need to take medicine to help regulate the heart’s rhythm. However, this is not common in kids.

Leakage due to MVP may continue over years; very rarely, a child might need surgery to repair a very leaky mitral valve.

Preventing Heart Infection

In a child with MVP with regurgitation (leaking), there is a small risk of a bacterial infection of the heart valve (infective endocarditis). It very rarely happens during childhood. Many times the bacteria that cause this kind of infection start out living in the mouth and from there enter the bloodstream through the gums and then, even more rarely, cause the infection.

For many years, doctors recommended giving a dose of antibiotics before dental work and surgical procedures as a precaution. Following a review and published report by The American Heart Association in 2007, it is no longer recommended that antibiotics be given, as they were not found to reliably protect the patient.

Instead, your child should focus on good mouth care by:

• Brushing his or her teeth twice a day, morning and night (after eating).
• Flossing the teeth each night.
• Seeing the dentist every 6-months.

Your child’s cardiologist will let you know if there are reasons to do something other than follow these guidelines.

Caring for a Child With MVP

Kids with MVP who have no other medical conditions usually require no special care. A child with MVP who plays competitive sports will be able to continue doing so as long there’s no mitral regurgitation or active symptoms from the MVP. A child who does have regurgitation or symptoms will have to be cleared by the doctor to participate in sports. This may involve some additional tests.

Although any heart condition can be frightening, mitral valve prolapse likely will not have any effect on your child’s everyday life and activities. If you have any questions or concerns, speak with your doctor.

The ductus arteriosus is a normal blood vessel that connects two major arteries — the aorta and the pulmonary artery — that carry blood away from the heart in a developing fetus.

The lungs are not used while a fetus is in the womb because the baby gets oxygen directly from the mother’s placenta. The ductus arteriosus diverts blood away from the lungs and sends it directly to the body. When a newborn breathes and begins to use the lungs, the ductus is no longer needed and usually closes during the first 2 days after birth.

But when the ductus fails to close, a condition called patent (meaning “open”) ductus arteriosus (PDA) results, in which oxygen-rich blood from the aorta is allowed to mix with oxygen-poor blood in the pulmonary artery. As a result, too much blood flows into the lungs, which puts a strain on the heart and increases blood pressure in the pulmonary arteries.

Causes

The cause of PDA is not known, but genetics might play a role. PDA is more common in premature babies and affects twice as many girls as boys. It’s also common among babies with neonatal respiratory distress syndrome, babies with genetic disorders (such as Down syndrome), and babies whose mothers had rubella (also called German measles) during pregnancy.

In the vast majority of babies with a PDA but an otherwise normal heart, the PDA will shrink and go away on its own in the first few days of life. Some PDAs that don’t close then will close on their own by the time the child is a year old.

In premature infants, the PDA is more likely to stay open, particularly if the baby has lung disease. When this happens, doctors might consider treatment to close the PDA.

In infants born with other heart problems that decrease blood flow from the heart to the lungs or decrease the flow of oxygen-rich blood to the body, the PDA may actually help, and the doctor might prescribe medicine to keep the ductus arteriosus open.

Symptoms and Tests

Babies with a large PDA might have symptoms such as:

• a bounding (strong and forceful) pulse
• fast breathing
• poor feeding habits
• shortness of breath
• sweating while feeding
• tiring very easily
• poor growth

If a PDA is suspected, the doctor will use a stethoscope to listen for a heart murmur, which is often heard in babies with PDAs. Follow-up tests might include:

• a chest X-ray
• an EKG, a test that measures the heart’s electrical activity and can show if the heart is enlarged
• an echocardiogram, a test that uses sound waves to diagnose heart problems. These waves bounce off parts of the heart, creating a picture of the heart that is shown on a monitor. In babies with PDA, an echo shows how big the opening is and how well the heart is handling it.
• blood tests

Treatment

The three treatment options for PDA are medication, catheter-based procedures, and surgery. A doctor will close a PDA if the size of the opening is large enough that the lungs could become overloaded with blood, a condition that can lead to an enlarged heart.

A doctor might also close a PDA to reduce the risk of developing a heart infection known as endocarditis, which affects the tissue lining the heart and blood vessels. Endocarditis is serious and requires treatment with intravenous (IV) antibiotics.

About Port-Wine Stains

A port-wine stain is a birthmark that literally looks like maroon wine was spilled or splashed on the skin. Though they often start out looking pink at birth, port-wine stains tend to become darker (usually reddish-purple or dark red) as kids grow.

Port-wine stains (also known as nevus flammeus) can be anywhere on the body but most commonly are found on the face, neck, scalp, arms, or legs. They can be any size, and usually grow in proportion with a child. They often change in texture over time, too — early on, they’re smooth and flat but they may thicken and feel like pebbles under the skin during adulthood.

For most kids, port-wine stains are no big deal — they’re just part of who they are. And some port-wine stains are barely noticeable, especially when they’re located somewhere other than the face.

But port-wine stains often get darker and can sometimes become disfiguring and embarrassing for children. Port-wine stains (especially on the face) can make kids feel self-conscious, particularly during the already challenging preteen and teen years, when kids are often more interested in blending in than standing out.

Although port-wine stains won’t go away on their own, they can be treated. In fact, laser therapies can make many port-wine stains much less noticeable.

Port-wine stains can’t be prevented — and they’re not caused by anything a mother did during pregnancy.

Diagnosis

Your doctor can sometimes tell if it’s a port-wine stain by looking at your child’s skin. Port-wine stains are usually nothing more than a harmless birthmark that doesn’t cause any problems or pain. However, they’re sometimes (though very rarely) a sign of other medical conditions.

For example, port-wine stains on or near the eye or on the forehead need to be monitored. That’s because they may be associated with a sort of “stain on the brain” (a very uncommon neurological disorder called Sturge-Weber Syndrome that causes problems like seizures, developmental delays, and learning disabilities). Stains on the eyelids may also lead to glaucoma — increased pressure inside the eye that can affect vision and lead to blindness if left untreated.

If there’s a concern about the location of a port-wine stain or symptoms, your doctor may order tests (such as eye tests or imaging tests like an X-ray, CT scan, or MRI) to see what’s going on and rule out another problem. If your child has a birthmark anywhere on the body it’s important for your doctor examine it to see what type it is and what kind of monitoring and treatment it needs, if any.

Treatment

Although some port-wine stains are small and hard to see, some can be really upsetting for kids, especially if they’re large, dark, or on the face. And any birthmark can take a toll on a child’s self-confidence, no matter how large or small the mark might be.

The good news is that lasers (highly concentrated light energy) can make many port-wine stains much lighter, especially when the birthmark is on the head or neck. Dermatologists or plastic surgeons usually give several treatments with a “pulsed-dye” laser.

Laser treatment is often started in infancy when the stain and the blood vessels are smaller and the birthmark is much easier to treat. But that doesn’t mean laser treatments can’t help older kids or teens, too — it’s just that the longer someone has had the stain, the harder it might be to successfully treat it.

Laser treatment can be uncomfortable. During the treatment, kids can usually be given an anesthetic (given as a shot, spray, or ointment to numb the area). Young kids may also be given general anesthesia to help them sleep or relax during the procedure. After treatment, the area might be swollen and bruised at first, but it will be back to normal in 7 to 10 days.

For port-wine stains that have become bumpy, thick, or raised, doctors sometimes need to use another type of laser or surgery. Port-wine stains can also develop grape-like growths of small blood vessels called vascular blebs — these aren’t usually cause for concern, but they often bleed and may need to be removed.

In the past some people have chosen other treatments, too (like freezing, tattooing, even radiation). But these aren’t as effective — or as safe — as laser therapy. Laser surgery is the only treatment that works on port-wine stains with less risk of damaging or scarring the skin. Sometimes, though, laser treatments may make the pigmentation lighter or darker than normal, although this usually is just temporary.

And laser treatments may not get rid of the birthmark entirely (though some birthmarks disappear completely after treatment). Plus, over time the birthmark may come back and need to be retreated.

For a small number of kids, laser treatment might not work at all. Every child’s port-wine stain is different, so whether or not the treatment works well will be different for each child, too.

Care

Port-wine stains can get very dry sometimes, so it’s important to use a moisturizer. Also be sure to call the doctor if your child’s port-wine stain ever bleeds, hurts, itches, or becomes infected. Like any injury where there’s bleeding, make sure to clean the wound with soap and water and use a gauze bandage to place firm pressure on the area until the bleeding stops. If the bleeding doesn’t stop, call your doctor.

If your child’s port-wine stain has been treated with laser surgery, avoid rubbing or scratching the area, and gently cleanse it with lukewarm water. Your doctor may prescribe an ointment to aid in healing and help prevent infection.

Helping Kids Cope

As with any birthmark, port-wine stains (especially on the face) can make kids feel different and insecure about how they look. If it’s clearly visible, people might ask questions or stare, which can be hurtful for both you and your child. Even at a young age, kids watch how their parents respond to these situations and take cues about how to cope with others’ reactions.

Practice responses so your child will feel more prepared when asked about it. It can help to have a simple, calm explanation ready like, “It’s just a birthmark. I was born with it.”

Talking simply and openly about a birthmark with kids makes them more likely to accept it as just another part of themselves — like their height or eye color. It’s also important, emotionally, for kids to be around supportive family and friends who treat them like everyone else.

Of course, it’s still natural for kids to want to do whatever they can to minimize a birthmark. In addition to laser treatments, special cover-up makeup can hide the stain and make living with it a little easier.

Still, kids with port-wine stains (or any birthmark, really) need to know that they’re no different from other kids. If anything, it may help to tell your child that kids born with a port-wine stain are unique in a good way — it’s a special, colorful part of themselves that few other people have.

Usually, red blood cells (RBCs) are shaped like round discs. People who have sickle cell disease, though, have RBCs that are shaped like sickles, or crescent moons. This defect can cause painful episodes, serious infections, chronic anemia, and damage to body organs.

These complications can vary from person to person depending on which type of sickle cell disease each has. Some people are relatively healthy and others are hospitalized often.

But thanks to advancements in early diagnosis and treatment, most kids born with this inherited disorder grow up to live active, healthy, and productive lives.

A Closer Look at Sickle Cell Disease

The different types of sickle cell disease are determined by the genes inherited from the person’s parents.

Someone who inherits a sickle cell gene from each parent has hemoglobin SS disease, also called sickle cell anemia.

A person can also inherit a sickle cell gene from one parent and a different kind of abnormal gene from the other and end up with a different form of sickle cell disease, such as hemoglobin SC disease or hemoglobin S beta thalassemia.

Someone who inherits only one sickle cell gene and a normal gene from the other parent will have the sickle cell trait, but not the disease. A blood test can determine whether someone has a form of sickle cell disease or carries the sickle cell trait.

People with sickle cell trait don’t have sickle cell disease and usually don’t show signs of the disorder, but they can pass the gene for the disease to their children. Many people don’t know they have sickle cell trait, but most babies in the United States are now tested as part of their newborn screening. When both parents have the sickle cell trait, there’s a 25% chance that a child will have sickle cell disease. But when one parent is carrying the trait and the other actually has the disease, the odds increase to 50% that their child will inherit the disease.

Who Is Affected?

In the United States, hemoglobin SS disease (sickle cell anemia) affects mostly African Americans. However, forms of sickle cell disease may happen in people with different ethnic backgrounds, such as those whose ancestors came from Mediterranean countries (including Turkey, Greece, and Italy), East India, or Middle Eastern countries.

Causes of Sickle Cell Disease

Hemoglobin allows red blood cells to carry oxygen. It is made up of alpha chains and beta chains. A child with sickle cell disease has inherited two abnormal genes for the beta chain of hemoglobin.

Hemoglobin can group together abnormally, distorting the shape of RBCs. The cells change from a normal round, donut shape to the elongated shape of a sickle, or the shape of the letter “C.”

Unlike normal RBCs, which move easily through small blood vessels, sickle cells are stiff and pointed. They have a tendency to get stuck in narrow blood vessels and block the flow of blood. This can cause episodes of pain and also can lead to organ damage because the tissues aren’t getting enough oxygen.

Sickle cells have a shorter-than-normal life span, which leads to anemia (low RBC count). A normal red blood cell lives for about 120 days in circulation, whereas a sickle cell lives for only 10 to 20 days.

Diagnosis

Sickle cell disease usually is diagnosed at birth with a blood test during routine newborn screening tests. If a child tests positive on the screening test, a second blood test (called a hemoglobin electrophoresis) should be done to confirm the diagnosis.

Because kids with sickle cell disease are at increased risk of infection and other health complications, early diagnosis and treatment to prevent problems is important. Currently, all 50 states in the U.S. require newborn screening programs for sickle cell disease.

Signs and Symptoms

Symptoms of sickle cell disease vary, ranging from mild to severe, and may be less severe or different in kids who have inherited a sickle cell gene from one parent and a different abnormal hemoglobin gene from the other.

Most kids with sickle cell disease have some degree of anemia and might develop one or more of the following conditions and symptoms as part of the disorder:

Acute chest syndrome: Inflammation, infection, and occlusion (blockages) of small vessels of the lung may cause this syndrome. Signs include chest pain, coughing, difficulty breathing, and fever.

Aplastic crisis: This is when the bone marrow temporarily slows its production of RBCs due to infection (most commonly parvovirus) or another cause, resulting in a serious drop in RBCs and severe anemia. Signs include paleness, fatigue, and rapid pulse.

Hand-foot syndrome (also called dactylitis): This painful swelling of the hands and feet may be the first sign of sickle cell anemia in some infants.

Infection: Kids with sickle cell disease are at increased risk for certain bacterial infections. It’s important to watch for fevers of 101°F (38°C) or higher, which could signal an infection. Children with sickle cell disease and a fever should be seen by a doctor immediately.

Painful crises: These may happen in any part of the body and may be brought on by cold, stress, or dehydration. The pain may last a few hours, a few days, or sometimes much longer. Pain may be so severe that a child needs to be hospitalized.

Splenic sequestration crises: The spleen becomes enlarged by trapping (or “sequestering”) the abnormal RBCs. This can lead to a serious and rapid drop in the red cell count (severe anemia). Early signs include paleness, weakness or fatigue, an enlarged spleen, and pain in the abdomen.

Stroke: Impaired blood flow in the brain can happen when the sickle-shaped cells block small blood vessels, which may lead to a stroke. Signs can include headache, seizures, weakness of the arms and legs, speech problems, a facial droop, or loss of consciousness.

Other possible complications include leg ulcers, bone or joint damage, gallstones, kidney damage, painful prolonged erections in males (priapism), eye damage, and delayed growth.

Treatment

Stem cell transplant (also called bone marrow transplant) is the only known cure for sickle cell disease. Transplants are complex and risky procedures, and for now are an option only for a carefully selected subset of patients with severe complications.

To be eligible, a child would need bone marrow or stem cells from a “matched” donor with a low risk of rejection. Even then, the procedure has significant risks and there’s always the chance of rejection of the transplanted marrow.

But even without a cure, kids with sickle cell disease can lead fairly normal lives. Medicines are available to help manage the pain, and immunizations and daily doses of penicillin (an antibiotic) can help prevent infection.

Infection used to cause many deaths in infants and young children with sickle cell disease. But thanks to penicillin (or a similar antibiotic, amoxicillin) and appropriate immunizations, kids are much more likely to live longer, healthier lives. Although penicillin isn’t a cure, it can help prevent life-threatening infections due to bacteria that cause serious blood infections, meningitis, and pneumonia.

Most kids will need two daily doses of penicillin, as prescribed by their doctors, until they’re at least 5 years old (and often older). They also should be fully immunized with the regular childhood vaccinations, as well as the pneumococcal, influenza, and meningococcal vaccines. Folic acid supplements can help them continue to produce new RBCs.

Sometimes, kids who develop serious complications (such as recurrent acute chest syndrome, especially severe anemia, or stroke) may receive regular transfusions of red blood cells to prevent or treat these complications.

Hydroxyurea is a medicine that increases the amount of fetal hemoglobin in blood cells, which interferes with the sickling process and makes RBCs less sticky. This helps decrease the frequency and intensity of painful episodes and other complications such as acute chest syndrome. When taken every day, hydroxyurea has been proven to decrease pain and other complications in kids and adults. Fortunately, it is also very safe and has few side effects. More and more kids and adults with sickle cell, including very young children, are taking this drug.

When to Call the Doctor

Seek emergency medical attention immediately if your child develops any of the following:

• fever of 101°F (38°C) or higher
• pain that isn’t relieved by oral medication
• chest pain
• shortness of breath or trouble breathing
• extreme fatigue (tiredness)
• severe headaches or dizziness
• severe stomach pain or swelling
• jaundice (yellowish skin or whites of the eyes) or extreme paleness
• painful erection in males
• sudden change in vision
• seizures
• weakness or inability to move any part of the body
• slurring of speech
• loss of consciousness
• numbness or tingling

Caring for Your Child

Your child should receive regular care from your primary care doctor as well as a hematologist (a blood specialist) or a sickle cell specialty clinic. It’s important to share your concerns and discuss any new symptoms or complications with your child’s health care team.

Your child also should drink lots of fluids, get plenty of rest, and avoid extreme temperatures.

Most people with sickle cell disease now live into middle age and often well beyond. A critical time is the first few years of life, which is why early diagnosis and treatment are so important.

Stem cells are cells in the body that have the potential to turn into anything, such as a skin cell, a liver cell, a brain cell, or a blood cell. Stem cells that turn into blood cells are called hematopoietic (heh-mat-uh-poy-EH-tik) stem cells. These cells are capable of developing into the three types of blood cells:

1. red blood cells that carry oxygen
2. white blood cells that fight infection
3. platelets that help blood to clot

Hematopoietic stem cells can be found in bone marrow (the spongy tissue inside bones), the bloodstream, and the umbilical cord blood of newborn babies.

A stem cell transplant (sometimes called a bone marrow transplant) can replenish a child’s supply of healthy hematopoietic stem cells after they have been depleted. It’s used to treat a wide range of diseases, including cancers like leukemia, lymphoma, neuroblastoma, Wilms tumor, and certain testicular or ovarian cancers; blood disorders; immune system diseases; and bone marrow syndromes.

Transplanted hematopoietic stem cells are put into the bloodstream through an intravenous (IV) line, much like a blood transfusion. Once in the body, they can produce healthy new blood and immune system cells.

Types of Transplants

The two main types of stem cell transplants are autologous (aw-TAHL-uh-gus) and allogeneic (al-uh-juh-NEE-ik). The type of transplant needed will depend on the child’s specific medical condition and the availability of a matching donor.

• Autologous hematopoietic stem cell transplant. With this type of transplant, patients act as their own donor. For instance, a child who is about to undergo cancer treatment will have his or her own stem cells removed (harvested) and frozen for later use. After the child receives chemotherapy and/or radiation, the stem cells are thawed and put back into the child’s body.

  This procedure may be done once or many times, depending on the need. Sometimes doctors will use extra-high doses of chemotherapy during treatment (to kill as many cancer cells as possible) if they know a patient will be getting a stem cell transplant soon after.

• Allogeneic hematopoietic stem cell transplant. With an allogeneic transplant, the stem cells come from a donor — often a sibling but sometimes another volunteer — whose cells are considered a “match” for the patient. The process of finding a match is called tissue typing (or HLA [human leukocyte antigen] typing). HLA is a protein on the surface of blood cells. Basically, the more “HLA markers” a child and the potential donor have in common, the greater the chance that the transplant will be successful.

  Unlike with an autologous transplant, there is a risk of a child’s body rejecting the donated cells. This means that the body’s own immune cells destroy the transplanted stem cells because they sense they are foreign. Sometimes, despite the donor being a good match, the transplant simply may not take. Other times, the donor cells can begin to make immune cells that attack the recipient’s body. This condition is called graft-versus-host disease, and can be quite serious. Fortunately, most cases are successfully treated with steroids and other medicines.

  Sometimes, an upside of graft-versus-host disease is that the newly transplanted cells recognize the body’s cancer cells as different or foreign, and actually work to fight them.

Transplantation

Stem cell transplantation is a very complex process that may span several months. A team of doctors is usually involved in determining if a child is a candidate and, if so, whether the transplant will be autologous or allogeneic.

For an allogeneic transplant, a compatible donor will be sought among family members or through a national registry of volunteers. Once a match is found, the donor’s stem cells will be harvested. Three different types of hematopoietic stem cells can be collected or harvested:

1. Peripheral blood stem cells are harvested from donated blood. The stem cells are separated and collected and the rest of the blood is returned to the donor.
2. Bone marrow stem cells are collected from the donor’s hip bone through a surgical procedure.
3. Cord blood stem cells are collected from the umbilical cord (the part of the placenta that delivers nutrients to a fetus) immediately after a baby is born and the umbilical cord is clamped and cut.

While all three types can replenish a patient’s blood and bone marrow cells, there are advantages and disadvantages to each. The doctor will suggest the best type of stem cell for your child’s illness.

The next step in the transplantation process is conditioning therapy, which kills unhealthy cells (like cancer cells) to make room for stem cells to grow and/or weakens the immune system so that there’s less chance of the body rejecting the new cells.

One type of conditioning therapy delivers high doses of chemotherapy and/or radiation to kill cells, destroy the bone marrow, and weaken the immune system. Most kids will get this type of therapy. Another type of conditioning therapy delivers lower doses of chemotherapy, radiation, or another treatment to weaken the immune system. The doctor will decide which type of conditioning therapy is best.

Soon after the conditioning phase, the transplant itself will be done through intravenous (IV) infusion, and healthy stem cells will be introduced to the child’s body. After the infusion, the child will be watched very closely to make sure the new stem cells are settling into the marrow and beginning to make new blood cells (called engrafting). Doctors will watch for any signs of rejection as well as graft-verses-host disease in kids with allogeneic transplants.

Engrafting takes an average of 2 weeks, but can be as quick as 1 week or as long as 6 weeks. Your child will receive medicines to promote engrafting and prevent rejection and graft-versus-host disease.

Recovery

Kids who receive stem cell transplants have a high risk of infection. During conditioning therapy and while the transplant is engrafting, their immune systems are weakened and unable to fight bacteria and other germs that enter the body. Children who receive an allogeneic transplant have an even greater risk of infection because they require medicines to further suppress their immune systems to reduce the chance of rejection.

Because of these risks, a child who’s had a stem cell transplant will not be released from the hospital until doctors are sure the transplant has successfully engrafted and the child is otherwise doing well.

Once released, a child needs very close monitoring and follow-up care. School and other public indoor areas may be off limits for 3 months to a year, and other places might be restricted as well. This is because for kids with a compromised immune system, even a simple infection like a common cold can be serious and even life-threatening if untreated.

Coping

The stress of having a child who is being treated for cancer or another serious condition can be overwhelming for a family. That stress can grow when treatment requires a long “isolation period,” as is necessary with a stem cell transplant.

To find out what support is available to you and your child, talk to your doctor, a hospital social worker, or child life specialist. Many resources are available that can help you get through this difficult time.

Like most people, you probably think that strokes only happen in adults — especially older adults. But kids can have strokes, too. Although they’re less common in kids, strokes occur in children of all ages, even those who haven’t been born yet.

About Strokes

A stroke is a biological event (sometimes called a “brain attack”) that happens when blood flow to the brain stops, even for a brief second.

Blood carries oxygen and other nourishing substances to the body’s cells and organs, including the brain. When an ischemic stroke occurs, these important substances can’t get to the brain and brain cells die. This can permanently damage the brain and cause a person’s body to no longer function normally.

Strokes also can happen when a blood vessel in the brain breaks, flooding the brain with blood and damaging brain cells. This is known as hemorrhagic stroke.

Strokes in children most often happen between the 28th week of pregnancy, before a child is born, and 1 month after birth. Because they occur during the time surrounding birth, they’re sometimes called perinatal strokes. Perinatal strokes usually occur during delivery or right after delivery because the baby doesn’t get enough oxygen while traveling through the birth canal.

Strokes also can occur in older kids but are usually caused by another condition that stops the flow of blood to the brain or causes bleeding in the brain.

Causes

Determining the cause of a stroke in a child can be difficult. If your child has had a stroke, the doctor might not have definite answers for you, but can tell that a stroke occurred by using medical tests. About one third of all childhood strokes aren’t related to any disease, condition, or injury that’s known to increase the risk of stroke.

While strokes in adults happen more often because of high blood pressure, diabetes, or atherosclerosis, the risk factors for stroke in children are more varied.

Ischemic strokes, the most common type in children, are usually related to:

• lack of oxygen during birth
• a heart defect present at birth
• blood disorders such as sickle cell anemia, a disease that destroys blood cells and blocks blood vessels
• injury to an artery (a blood vessel that brings oxygen) in the brain
• dehydration
• genetic disorders like Moyamoya, a rare disease that affects arteries in the brain
• an infection, such as meningitis or chickenpox

Certain problems that affect a mother during pregnancy can also cause a baby to have an ischemic stroke before or after birth. Examples include:

• preeclampsia (high blood pressure during pregnancy that can cause swelling in the hands, feet, and legs)
• premature rupture of the membranes (when a woman’s water breaks more than 24 hours before labor starts)
• diabetes
• infections
• drug abuse
• placenta problems that decrease the baby’s oxygen supply, such as placental abruption

Hemorrhagic strokes can be caused by:

• a head injury that results in a broken blood vessel
• arteriovenous malformation, a condition in which the blood vessels in the brain don’t connect properly
• an aneurysm (weakness in an artery wall)
• diseases that affect blood clotting, such as hemophilia

Signs and Symptoms

Signs of stroke in older children are often similar to signs in adults, which can include sudden weakness, slurred speech, or blurred vision. These effects vary widely depending on a child’s age and the amount of damage to brain cells.

Children who experience a perinatal stroke often don’t show any signs of the stroke until months or years later. In some cases, they develop normally, but at a much slower pace than other kids. They also might tend to use one hand more than the other when engaging in activities. Children who have more serious perinatal strokes, which cause more brain injury, might also experience seizures. The severity of seizures can vary, ranging from the child simply staring into space to violent shaking of only one arm or leg.

Signs of a stroke in infants:

• seizures in one area of the body, such as an arm or a leg
• problems eating
• trouble breathing or pauses in breathing (apnea)
• early preference for use of one hand over the other
• developmental delays, such as rolling over and crawling later than usual

A seizure may be the first sign that an older child or adolescent has had a stroke. These children might also experience sudden paralysis (inability to move) or weakness on one side of the body, depending on the area of the brain that’s affected and the amount of damage the stroke causes. More likely, a parent first notices changes in the child’s behavior, concentration, memory, or speech.

Common signs of stroke in kids and teens:

• seizures
• headaches, possibly with vomiting
• sudden paralysis or weakness on one side of the body
• language or speech delays or changes, such as slurring
• trouble swallowing
• vision problems, such as blurred or double vision
• tendency to not use one of the arms or hands
• tightness or restricted movement in the arms and legs
• difficulty with schoolwork
• memory loss
• sudden mood or behavioral changes

If your child experiences any of these symptoms, see a doctor right away, or dial 911. In kids who are actively having a stroke, medicine can be given to potentially reduce the severity of the stroke and the brain damage it can cause.

Diagnosis

Perinatal and early childhood strokes can sometimes be hard to diagnose, especially if a child has no obvious signs or symptoms. In some cases, a stroke is found to be the cause of seizures or developmental delays only after many other conditions have been ruled out. This might mean that a child will undergo several tests before the doctor even mentions the word “stroke.”

If stroke is suspected, a doctor will probably want the child to undergo one or more of these medical tests:

• blood tests
• magnetic resonance imaging (MRI): a safe and painless test that uses magnets, radio waves, and computer technology to produce very good pictures of internal body parts, such as the brain
• magnetic resonance angiography (MRA): an MRI of specific arteries
• magnetic resonance venography (MRV): an MRI of specific veins
• computed tomography scan (CT or CAT scan): a quick and painless test that produces pictures of bones and other body parts using X-rays and a computer
• computed tomography angiography (CTA): an X-ray of specific arteries
• cranial ultrasound: high-frequency sound waves that bounce off organs and create a picture of the brain
• lumbar puncture (also called a spinal tap)

Treatment

Treatment for a stroke is determined by how old the child is, what signs and symptoms he or she experiences, which area of the brain is affected, how much brain tissue was damaged, and whether another ongoing condition was the cause of the stroke.

Many different treatments are possible. For example, a child who is having seizures may require anti-seizure medications, whereas a child with a heart defect might need medication to thin the blood. For most kids, treatment also involves age-appropriate rehabilitation and therapy.

Complications

The brain damage that occurs during a stroke can cause a number of other problems that could affect a child throughout life, including:

• cerebral palsy
• mental retardation
• paralysis or weakness on one side
• communication problems
• vision deficits
• psychological difficulties

Kids who’ve had a stroke will see doctors who specialize in helping people cope with these problems. These specialists might include occupational, physical, and speech therapists. A child’s care might be overseen by a neurorehabilitation specialist, a doctor who uses many different types of therapy to help children recover from stroke.

Outlook

At this time, no treatment exists that will fix brain cells that have died. However, one amazing thing about the brain is that undamaged brain cells can learn to perform the jobs of cells that have died, especially in young people.

In many cases after a stroke, kids can be taught to use their arms and legs and speak again through brain retraining. Although this process is usually slow and difficult, children have an edge over adults because their young brains are still developing. Most kids who have had strokes are able to function normally in society and grow to be productive members of their communities.

Don’t be afraid to ask questions about your child’s condition or treatment or to ask for help when you need it. You aren’t facing your child’s stroke, rehabilitation, and future care alone. In addition to the doctors and therapists who will be working with your child, look for support groups for parents of kids who have had strokes and for those who have a risk of additional strokes or permanent disabilities. It can be helpful to seek support from other parents facing the same challenges.

Tetralogy of Fallot (fah-LO) is a combination of problems caused by a birth defect in the structure of the heart that changes the way blood flows through the heart.

Each year, 4 out of every 10,000 babies born in the United States have the condition, which was named after the French doctor who first described it in the late 1800s, Étienne Fallot. About 10% of all babies born with a heart problem have tetralogy of Fallot (TOF).

The four related problems that together make up tetralogy of Fallot are:

1. Ventricular septal defect (VSD), which is a hole in the septum, or wall, separating the two lower chambers, or ventricles, of the heart. The septum acts as a barrier that prevents blood from both sides of the heart from mixing together. But when there is a VSD, blood high in oxygen from the left ventricle can mix with blood low in oxygen from the right ventricle. VSD is the defect that can lead to the other problems associated with TOF.
2. Pulmonary stenosis, a narrowing or thickening of the valve that connects the right ventricle to the pulmonary artery, a blood vessel that carries low-oxygen blood from the heart to the lungs, where the blood receives more oxygen and then returns to the heart. With pulmonary stenosis, the heart has to work harder than normal to pump blood to the lungs. Often, the amount of blood reaching the lungs is below normal.
3. Right ventricular hypertrophy (hi-PER-truh-fee), which is a thickening of the muscular wall of the right ventricle. The thickened wall can block the flow of blood through the pulmonary valve, which allows blood from the heart to flow into the lungs.
4. An “overriding aorta,” which means the artery that carries high-oxygen blood to the body is out of place and arises above both ventricles, instead of just the left ventricle, as in a healthy heart. This allows some blood that is low in oxygen to flow into the aorta and out to the body, instead of to the pulmonary artery, which would normally take it to the lungs to pick up oxygen.

As a result of these defects, too little blood goes to the lungs. The low-oxygen blood then circulates to the rest of the body and too little oxygen reaches the body tissues.

If tetralogy of Fallot goes untreated, a child may have:

• dizziness, fainting, or seizures
• a higher risk of developing endocarditis, an infection of the inner layer of the heart
• high pressure in the right side of the heart that can cause an irregular heartbeat, called an arrhythmia

A child whose TOF is not repaired might need to limit participation in competitive sports and other physical activities. Many infants who have surgery to correct the defect do very well, participate in normal kid activities, and live to adulthood.

Causes

Scientists have not yet identified a specific cause for tetralogy of Fallot in all cases, but they believe genetics play a role. Someone born with TOF is more likely to have a child or sibling with it.

Mothers who get rubella (German measles) or other viral illnesses during their pregnancies are at a higher risk of giving birth to babies with TOF. Other risk factors and conditions include poor nutrition, alcohol abuse, uncontrolled diabetes, and the mother’s age (over 40).

Most of the time, a child with TOF does not have any other birth defects. But children who have certain genetic disorders, such as Down syndrome, often have congenital heart defects, including TOF.

Certain environmental factors, such as air pollution, also may increase a mother’s chances of having a baby with TOF.

Signs

One of the most common signs of tetralogy of Fallot is cyanosis (a blue or purple tint to the baby’s skin, lips, and fingernails). Healthy babies can sometimes also have a bluish skin tone around the mouth or around the eyes from prominent veins under the skin. This is perfectly normal. If a baby’s lips and tongue look pink, you generally don’t have to be concerned because babies who have low oxygen levels in the blood usually have blue lips and tongues in addition to bluish skin.

A child with TOF might have sudden episodes of deep cyanosis, called “Tet spells,” during crying or feeding. Older children who have Tet spells will often instinctively squat down, which helps to stop the spell.

Other signs include:

• heart murmur
• fussiness
• easy tiring with exertion
• difficulty breathing
• fatigue (tiredness)
• rapid heartbeat (palpitations)
• fainting
• “clubbing,” where the skin or bones around the tips of fingers are widened or rounded

Diagnosis

Your doctor may use several tests to find out if your child has tetralogy of Fallot, including:

• pulse oximeter: a small sensor that clips onto the fingertip, toe, or ear and measures how much oxygen is in the blood
• electrocardiogram (or EKG): a test that records the electrical activity of the heart
• echocardiogram, or “echo”: an ultrasound picture of the heart structures (chambers, walls, and valves). It records the motion of the blood through the heart and can measure the direction and speed of blood flow within the heart structures.
• chest X-ray
• cardiac catheterization: a thin, flexible tube called a catheter is inserted into the heart, usually through a vein in the leg or arm, and provides information about the heart structures as well as blood pressure and blood oxygen levels within the heart chambers. Sometimes a device will be inserted into the heart or blood vessels through the heart catheter.

Treatment

Tetralogy of Fallot is repaired through open-heart surgery soon after birth or later in infancy, depending on the baby’s health and weight and severity of defects and symptoms.

The two surgical options are:

1. Complete repair: the surgeon widens the passageway between the right ventricle and the pulmonary artery to improve blood flow to the lungs. The ventricular septal defect is patched to stop the mixing of high-oxygen blood with low-oxygen blood between the ventricles.

   These repairs also fix the two remaining defects (overriding aorta and right ventricular hypertrophy). Because the right ventricle doesn’t have to work as hard to pump blood into the lungs, the thickness of the ventricle wall will decrease. And the patched VSD prevents blood with low oxygen from flowing into the aorta.

2. Temporary or palliative surgery: minor repairs are made to improve blood flow to the lungs. This usually only occurs when the baby is too weak or small to undergo full surgery. In the temporary surgery, the surgeon creates a secondary route for blood to travel to the lungs for oxygen. This is done by placing a small tube, called a shunt, between a large artery branching off the aorta and the pulmonary artery.

   Later when the baby grows stronger, the full repair is performed.

Most babies born with tetralogy of Fallot do very well and survive to adulthood, but require regular follow-up with a heart specialist.

A ventricular septal defect (VSD) — sometimes referred to as a hole in the heart — is a type of congenital heart defect. In a VSD, there is an abnormal opening in the dividing wall between the main pumping chambers of the heart (the ventricles).

VSDs are the most common congenital heart defect, and in most cases they’re diagnosed and treated successfully with few or no complications.

What Is a Ventricular Septal Defect?

To understand this defect, it helps to know some basics about the way a healthy heart typically works.

The heart has four chambers: The two lower pumping chambers of the heart are called the ventricles, and the two upper filling chambers are the atria.

In a healthy heart, blood that returns from the body to the right-sided filling chamber (right atrium) is low in oxygen. This blood passes to the right-sided pumping chamber (right ventricle), and then travels to the lungs to receive oxygen. The blood that has been enriched with oxygen returns to the left atrium, and then to the left ventricle. It’s then pumped out to the body through the aorta, a large blood vessel that carries the blood to the smaller blood vessels in the body.

The right-side and left-side pumping chambers (ventricles) are separated by shared wall, called the ventricular septum. Kids with a VSD have an opening in this wall. As a result:

• When the heart beats, some of the blood in the left ventricle (which has been enriched by oxygen from the lungs) flows through the hole in the septum into the right ventricle.
• In the right ventricle, this oxygen-rich blood mixes with the oxygen-poor blood and goes back to the lungs.

The blood flowing through the hole creates an extra noise, which is known as a heart murmur. The heart murmur can be heard when a doctor listens to the heart with a stethoscope.

VSDs can be in different places on the ventricular septum, and they can be different sizes. The symptoms and medical treatment of the VSD will depend on those factors. In some rare cases, VSDs are part of more complex types of congenital heart disease.

What Causes a VSD?

Ventricular septal defects happen during fetal heart development and are present at birth. During the first weeks after conception, the heart develops from a large tube, dividing into sections that will eventually become the walls and chambers. If there’s a problem during this process, it can create a hole in the ventricular septum.

In some cases, the tendency to develop a VSD may be due to genetic syndromes that cause extra or missing pieces of chromosomes. The vast majority of these defects, though, have no clear cause.

Signs and Symptoms

VSDs are usually found in the first few weeks of life by a doctor during a routine checkup. The doctor will hear a heart murmur as blood passes between the left and right ventricles. A murmur from a VSD has certain features that let a doctor know that’s it’s not due to other causes.

Whether a VSD causes any symptoms depends on the size of the hole and its location. Small VSDs usually won’t cause symptoms, and might close on their own. Older kids or teens who have small VSDs that don’t close usually have no symptoms other than the heart murmur. They might need to see a doctor regularly to make sure the VSD isn’t causing any problems.

Medium and large VSDs that haven’t been treated in childhood may cause noticeable symptoms. Babies may have faster breathing and get tired out during attempts to feed. They may start sweating or crying with feeding, and may gain weight at a slower rate.

These signs generally indicate that the VSD will not close by itself, and cardiac surgery may be needed. This usually is done within the first 3 months of life to prevent other complications. A cardiologist can prescribe medicine to lessen symptoms before surgery.

Endocarditis Risk

People with a VSD are at greater risk for developing endocarditis, an infection of the inner surface of the heart caused by bacteria in the bloodstream. Bacteria are always in our mouths, and small amounts get into the bloodstream when we chew and brush our teeth.

The best way to protect the heart from endocarditis is to reduce oral bacteria by brushing and flossing daily, and visiting the dentist regularly. In general, it’s not recommended that patients with simple VSDs take antibiotics before dental visits, except for the first 6 months after surgery.

Diagnosing a VSD

If your child has a heart murmur, your doctor may refer you to a pediatric cardiologist, a doctor who specializes in diagnosing and treating childhood heart conditions.

The cardiologist will do an exam and take your child’s medical history. If a VSD is suspected, the cardiologist may order one or more of these tests:

• a chest X-ray, which produces a picture of the heart and surrounding organs
• an electrocardiogram (EKG), which records the electrical activity of the heart
• an echocardiogram (echo), which uses sound waves to produce a picture of the heart and to visualize blood flow through the heart chambers. This is often the primary tool used to diagnose a VSD.
• a cardiac catheterization, which provides information about the heart structures and blood pressure and blood oxygen levels in the heart chambers. This test usually is done for a VSD only when more information is needed than the other tests can give. (It’s sometimes also used to close certain kinds of VSDs.)

Treating a VSD

Once a VSD is diagnosed, treatment depends on the child’s age and the size, location, and severity of the defect. A child with a small defect that causes no symptoms may only need to visit a cardiologist regularly to make sure that there are no other problems.

In most kids, a small defect will close on its own without surgery. Some might not close, but won’t get any larger. Kids with small VSDs generally do not need to restrict their activities.

Kids with medium to large VSDs likely will take prescription medicines to aid circulation and help the heart work more efficiently. Medicines alone, however, will not close the VSD, and in these cases, surgery may be necessary.

In most cases, surgery is done within the first few weeks to months of a child’s life. The surgeon makes an incision in the chest wall and a heart-lung machine will maintain circulation while the surgeon closes the hole. The surgeon can stitch the hole closed directly or, more commonly, will sew a patch of manmade surgical material over it. Eventually, the tissue of the heart heals over the patch or stitches, and by 6 months after the surgery, the hole will be completely covered with tissue.

Certain types of VSDs may be closed by cardiac catheterization. A thin, flexible tube (a catheter) is inserted into a blood vessel in the leg that leads to the heart. A cardiologist guides the tube into the heart to make measurements of blood flow, pressure, and oxygen levels in the heart chambers. A special implant, shaped into two disks formed of flexible wire mesh, is positioned into the hole in the septum. The device is designed to flatten against the septum on both sides to close and permanently seal the VSD.

After healing from an operation to repair the defect, a child with a VSD should have no further symptoms or problems.

Caring for a Child With a VSD

Some kids with VSDs may take heart medication before surgery to help ease symptoms from the defect. Those who have surgery for larger VSDs usually leave the hospital within 4 to 5 days after surgery if there are no problems.

In most cases, kids who have VSD surgery recover quickly and without complications. But doctors will closely watch the child for signs or symptoms of any problems.

Your child may have another echocardiogram to make sure that the heart defect has closed completely. If your child is having trouble breathing, call your doctor or go to the emergency department immediately.

Other symptoms that may indicate a problem include:

• a bluish color (cyanosis) to the skin around the mouth or on the lips and tongue
• poor appetite or difficulty feeding
• failure to gain weight or weight loss
• listlessness or decreased activity level
• a long-lasting or unexplained fever
• increasing pain, tenderness, or pus oozing from the incision

Call your doctor if you notice any of these signs in your child after closure of the VSD.

Any time a child is diagnosed with a heart condition, it can be scary. But the good news is that your pediatric cardiologist will be very familiar with this condition and how to best manage it. Most kids who’ve had a VSD corrected go on to live healthy, active lives.

If your child needs a heart transplant, you’re probably feeling lots of emotions all at once — including anger, sadness, worry, and frustration. These feelings can become overwhelming, especially when your child is waiting for a new heart.

Fortunately, many kids who undergo heart transplants go on to live normal, healthy lives once they recover from surgery. In the long term, they need to take medicines to help prevent complications and have regular checkups to check heart function.

During this difficult time, the best way to care for your child (and yourself) is to stay informed and communicate openly with your child’s doctor. When appropriate, talk with your child to make sure that he or she understands what is going on and is prepared for the challenges ahead.

About Heart Transplants

A heart transplant is a surgery in which doctors remove a person’s sick heart and replace it with a healthy donor heart.

Transplants in children are done when a child’s heart does not work properly and he or she won’t survive without a new one. Doctors sometimes refer to this condition as heart failure, or end-stage pediatric heart disease. They usually try to treat heart failure with medicine, surgery, or other procedures before recommending a heart transplant.

When Is a Heart Transplant Needed?

A child’s heart might not work right for many reasons. Sometimes, babies are born with heart defects (malformations) that cause their hearts to fail. These defects are the main cause of heart transplants in babies.

Certain forms of heart disease, such as cardiomyopathy, also can cause heart failure. Cardiomyopathy happens when the heart muscle does not function well. As a result, the heart cannot pump enough blood to the body. Cardiomyopathy is the main reason that children and teenagers need heart transplants.

Some other (less common) reasons that children might need heart transplants include myocarditis, an inflammation of the heart muscle, and abnormal heart rhythms, known as arrhythmias or dysrhythmias.

Getting a Healthy Heart

Transplanted hearts come from organ donors — adults and children who have agreed (or their guardians have agreed) to donate their organs in the event of an untimely death. They choose to donate the organs because they want to help someone else who is sick.

Preparing for Surgery

If your child needs a heart transplant, your doctor will refer you to a transplant center, where you’ll meet the members of the transplant team. The team members, who work together to make sure that a child has a successful transplant, probably will include surgeons, cardiologists (heart doctors), a transplant coordinator, nurses, nutritionists, psychologists, social workers, and other health care professionals.

The transplant team will evaluate your child to determine whether a transplant will be beneficial and whether your child is a good candidate for a transplant. The evaluation will include a medical history, a physical examination, and some tests, such as blood tests to determine blood type.

The team probably will perform several other diagnostic tests, which may include:

• an echocardiogram, a test in which sound waves are used to produce an image of the heart
• an electrocardiogram (also known as an ECG or EKG), a test that records the electrical activity of the heart and can help find arrhythmias and heart muscle damage
• cardiac catheterization, a procedure in which a thin, plastic tube called a catheter is inserted into a blood vessel and then threaded through to the heart in order to get an inside glimpse at the heart and its chambers

If the doctors want to examine the heart more closely, they will do a biopsy, removing a tiny piece of tissue from the heart to examine under a microscope.

The heart transplant evaluation lets the team learn as much about your child as possible. But it’s also a time for you and your child to learn about what will happen before, during, and after the transplant. The transplant team is there to provide information and support, so be sure to ask them questions if you don’t understand something.

Organ Waiting Lists

If the transplant team decides that a heart transplant is the right treatment, your child will be placed on an organ waiting list. This list has the names of all of the people who are waiting for hearts or other organs. As of April 2015, more than 4,000 Americans were on the waiting list for a heart transplant, including over 300 children and teens.

A group called the United Network for Organ Sharing (UNOS) oversees this list and is in charge of fairly determining who receives the donated organs. Organs are assigned based on how sick a person is and how quickly he or she needs a new organ.

Organs assignments also are based on which person on the waiting list is the best match for the organ donated. That means that the organ is the right size for the person’s body and the donor has the same blood type as the recipient.

Your child might have to wait to find a heart that is a good match. Unfortunately, no one knows how long that wait will be. It could be just a few days or it could be years.

Waiting can be difficult, so consider seeking support from parents whose children have undergone or are awaiting transplants. Many communities have support groups or you can ask your doctor or the hospital social worker for recommendations, or search online.

Getting the Call

When a suitable heart becomes available, your family will be notified by phone or pager and you will need to go to the hospital for the surgery right away. Because this could happen at any time, you should always be prepared.

When you get to the hospital, the transplant team will prepare your child for surgery. They may run a few tests to ensure that the new heart is a good match. Once the team decides that everything is OK, your child will be moved to an operating room.

In the operating room, your child will be given anesthesia to sleep through the surgery and won’t feel anything. The surgeons will make an incision in the chest and remove the sick heart. They will connect the new heart by sewing its blood vessels to the blood vessels in your child’s body. The new heart will then be placed in the chest. To allow the doctors to monitor heart function, the incision might not be sealed immediately.

Most heart transplant surgeries last between 4 and 6 hours. Someone on the transplant team will keep you informed about how the procedure is going while you wait.

Recovery

Right after the surgery, your child will be moved to the cardiac intensive care unit (CICU). You will be able to visit your child in the CICU for brief periods. Your child will receive sedation and medicine for pain, and will remain asleep on the ventilator with a breathing tube in place until the doctors determine that the new heart is working well. This may take a few days.

The length of time your child will spend in the CICU will depend on his or her condition. Generally, the stay is 7 to 10 days. When ready, your child will be transferred to the general cardiac ward. The transplant team will continue to care for and closely monitor your child.

Most children stay in the hospital at least 3 to 4 weeks after surgery. During this time, kids and their families learn how to care for the new hearts. Be sure you understand all of the doctors’ instructions because your child will need to follow them carefully.

When the transplant team agrees that your child is ready, he or she will be discharged from the hospital. In the weeks that follow, though, your child will return to the hospital many times so that the doctors can continue to make sure that everything is going well.

Possible Complications

One of the most common problems after transplant surgery is rejection. Rejection is the body’s normal reaction to something foreign. Usually, this reaction is beneficial. For example, it’s the way the body defends itself against harmful germs.

In the case of a heart transplant, rejection means that the body doesn’t recognize the new heart and doesn’t know that it is helpful. As a result, the immune system tries to attack it. Medicines (called immunosuppressants) help to control this reaction. In a sense, they trick the body into accepting the new organ.

Although the risk of rejection is greatest in the first few weeks after transplant surgery, the body never completely accepts the new heart and so anti-rejection medications must be taken for life. The transplant team will decide which medicines are best for your child and these must be taken exactly as instructed.

Anti-rejection medications can cause some unwanted side effects, such as fever, headache, nausea, tiredness, and irritability. Be sure to report these and any other reactions to your doctor. Unfortunately, these medicines also leave your child vulnerable to certain infections. This risk is greatest right after surgery, and other medicines will be given to help reduce the risk. When possible, your child should avoid people who are sick to lessen the chances of getting an infection.

Usually, the amount of immunosuppressants taken is gradually reduced as the body gets used to the new organ and the risk of rejection decreases. In rare cases, the body refuses to accept the new organ and another heart transplant is necessary.

Living Heart Healthy for Life

Many kids who have heart transplants live normal, healthy lives once they recover from surgery. Some feel better than they ever have before. Since no one can predict how long the new heart will keep functioning, your child will need to do everything possible to keep the heart healthy.

You can help by making sure that he or she takes all medicines as directed. Doing so can be difficult, especially at first and for younger kids. Also, watch your child for signs of infection and rejection, including fever, tiredness, difficulty breathing, vomiting, weight gain, and poor appetite. Immediately contact a doctor if these or any other problems happen. Also, encourage your child to get plenty of exercise and eat well.

In the long term, regular checkups are needed to watch for complications. At first, these checkups will happen often (perhaps weekly). Gradually, they’ll become less frequent and eventually might be needed only once or twice a year.