Congenital Heart Disease

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Congenital heart disease can describe a number of different conditions that are present at birth and that can affect the structure of a baby’s heart. These conditions vary from mild to severe, and can range from a small hole between the chambers of the heart, to missing or poorly formed portions of the heart.

It may not be possible to prevent congenital heart disease as, in most cases, the exact cause of the heart disease is not known. The causes are most likely due to a combination of multiple genetic and environmental factors. However, there are some guidelines you can follow to reduce the risk of your child developing heart disease. Read about these in Prevention.

If your child has been diagnosed with a congenital heart disease, the news is probably made you anxious and worried about your child's immediate and long-term health. However, learning about your child's congenital heart disease can help you understand his or her condition and what to expect in the near and distant future.

Which treatment is used, and how well your child responds to it, depends on the specific defect. Many congenital heart diseases need to be monitored carefully. Some may have no long-term effect on your child’s health, while others will need to be treated. Treatment can include medications, medical procedures or heart surgery.

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Severe heart disease generally becomes evident within the first few months of life. Signs and symptoms may include:

  • Loss of healthy skin colour
  • Pale grey or blue skin colour (cyanosis)
  • Very low blood pressure shortly after birth
  • Breathing difficulties, such as rapid breathing
  • Swelling in the legs, abdomen or areas around the eyes
  • Shortness of breath during feedings, leading to poor weight gain

If the heart problem is significant, your child's pediatrician or family physician will likely refer your child to a pediatric cardiologist. Pediatric cardiologists are trained to diagnose and treat heart problems in infants, children and young adults. They have the training and equipment to find out what tests and treatments your child will need, and how often your child will need heart checkups in the future.

Less serious congenital heart defects, such as ventricular septic defect, are usually diagnosed on a routine medical check and often not until later in life. There may not be any noticeable symptoms. However, when symptoms do exist, they may include:

  • Easily becoming short of breath during exercise or activity
  • Built-up fluid in the heart or lungs
  • Swelling in the hands, ankles or feet

If you notice these warning signs in yourself or your child, see your doctor. Your doctor can determine whether the problems being experienced are due to a heart defect or, in fact, the result of another medical condition.

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Congenital heart disease can describe a number of different conditions that are present at birth and that can affect the structure of a baby’s heart. According to the National Institutes of Health , it is the most common type of birth defect and causes more deaths in the first year of life than any other birth defects.

Congenital heart diseases can vary from mild to severe. Common defects range from a small hole between the chambers of the heart, to missing or poorly formed portions of the heart, such as the valves or vessels. These diseases can affect how blood flows through the heart and out to the rest of the body.

Complications of congenital heart disease

Some of the potential health complications that can occur with a congenital heart disease include:

  • Congestive heart failure: In babies with significant heart disease, congestive heart failure is a serious complication that usually develops in the first 6 months after birth. Congestive heart failure makes it difficult for the heart to pump blood to the body causing symptoms like rapid breathing, often with gasping breaths.
  • Slower growth and development: Children with congenital heart disease often develop and grow more slowly than do children who don't have heart defects. If the nervous system has been affected by the disease, your child may learn to walk and talk later than other children.
  • Pneumonia: Having a congenital heart disease increases the risk of respiratory tract infections, such as pneumonia. 
  • Heart rhythm problems: Those with congenital heart disease have a higher likelihood of developing an irregular heartbeat, known as arrhythmia.
  • Cyanosis: If your child's heart defect causes oxygen-rich and oxygen-poor blood to mix in his or her heart, your child may develop a greyish-blue skin colour, a condition called cyanosis.
  • Stroke: Although uncommon, some children with congenital heart defects are at increased risk of stroke due to blood clots traveling through a hole in the heart and on to the brain.
  • Emotional issues: Some children with congenital heart defects may develop emotional problems as a result of their insecurities about their size, activity restrictions or learning difficulties.
  • A need for lifelong follow-up. Treatment for children who have congenital heart disease may not end with surgeries or medication while they're young. People who have heart defects should be mindful of their heart problems over the course of their entire lives, as further complications, such as increased risk of heart tissue infection (endocarditis) or heart failure, can arise.
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If it's possible your child has a congenital heart disease, your doctor may order several tests to determine the cause of any problems. In addition to a regular physical exam, these could include:

  • Fetal echocardiogram: An echocardiogram is an ultrasound movie of the inside of the heart. A fetal echocardiogram allows your doctor to see if your child has a heart defect before he or she is born. The information gathered from this test is enough to diagnose nearly every type of congenital heart disease and plan treatment.
  • Echocardiogram: Your child's doctor may use a regular echocardiogram to diagnose a congenital heart defect after your child has been born. This allows the doctor to see your child's heart in motion, and to identify any abnormalities in the heart muscle and valves.
  • Electrocardiogram: This noninvasive test records the electrical activity of your child's heart and can help diagnose heart defects or rhythm problems. Electrodes connected to a computer and printer are placed on your child’s chest and show waves that indicate how your child's heart is beating. This test may also show if parts of the heart are too large or are overworked.
  • Chest x-ray: A chest x-ray gives information about your lungs and the heart's size and shape. If the heart is enlarged, or if the lungs have extra blood or other fluid in them, these could be signs of heart failure.
  • Pulse oximetry: This test measures how much oxygen is in your child's blood. A sensor is placed over the end of your child's finger to record the amount of oxygen in his or her blood. Too little oxygen could suggest a heart problem.
  • Cardiac catheterisation: In this test, a thin, flexible tube (catheter) is inserted into a blood vessel at your baby's groin or arm and guided through it into the heart. This test can give your child's doctor a much more detailed view of the heart and will allow the doctor to better assess the seriousness of a congenital heart disease. In some cases, treatment procedures can be done during cardiac catheterisation that will improve the heart's function.
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Which treatment is used, and how well your child responds to it, depends on the specific defect. Many congenital heart diseases need to be monitored carefully. Some may have no long-term effect on your child’s health, while others will need to be treated. Treatment can include medications, medical procedures or heart surgery.

  • Medications: Some less severe congenital heart diseases, especially those found later in childhood or adulthood, can be treated with medications that help the heart work more efficiently.
  • Procedures using catheters: Some children and adults now have their congenital heart defects repaired using catheterisation techniques, which allow the repair to be done without surgically opening the chest and heart. During this type of procedure, the doctor inserts a thin tube (catheter) into a leg vein and guides it to the heart. Once the catheter is positioned at the site of the problem, tiny tools are threaded through the catheter to the heart to repair the defect.
  • Open-heart surgery: In some cases, a catheter procedure won’t be enough to treat your child's heart disease. Your child may require open-heart surgery to try to repair the heart defect. These surgeries are major medical procedures and may require a long recovery time for your child.
  • Heart transplant: If a serious heart defect can’t be repaired, a heart transplant may be an option.
  • Some children with congenital heart disease may require multiple procedures and surgeries throughout life. Although, after treatment, the outcomes for children with heart defects will have improved dramatically, most will still require ongoing care and monitoring even after corrective surgery.
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It may not be possible to prevent congenital heart disease as, in most cases, the exact cause of the heart disease is not known. The causes are most likely due to a combination of multiple genetic and environmental factors. However, there are some guidelines you can follow to reduce the risk of your child developing heart disease. These include:

  • Avoid alcohol and other harmful substances during pregnancy: Avoiding alcohol during pregnancy is extremely important as babies with fetal alcohol syndrome often also have congenital heart defects. Consult with your doctor before taking any herbs, dietary supplements or drugs while you’re pregnant. Research shows that taking certain medications, such as thalidomide and warfarin, can cause birth defects including congenital heart disease.  In additional, keep away from painting and cleaning with strong-smelling substances.
  • Get a Rubella (German measles) vaccine: Developing Rubella during pregnancy may affect your baby’s heart development. Being vaccinated before you try to conceive can eliminate this risk.
  • Control diabetes: Studies show that having diabetes may affect the development of your baby’s heart. You can reduce the risk by carefully controlling your diabetes before attempting to conceive.
  • Have genetic testing done: Congenital heart diseases appear to run in families and are associated with many genetic syndromes. Genetic testing can detect such disorders during fetal development. If you already have a child with a congenital heart disease, a genetic counselor can predict the approximate odds of your next child developing a heart defect also.
  • Take a multivitamin with folic acid: Mayo Clinic adds that daily consumption of 400 micrograms of folic acid has been shown to reduce birth defects in the brain and spinal cord, and may help reduce the risk of heart problems as well.
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