Congenital Heart Disease

Congenital Heart Disease (CHD), also known as congenital heart defect, is a problem with the structure of the heart. The word “congenital” means existing at birth. The defects result when the walls of the heart, the valves of the heart, and the arteries and veins near the heart, don’t develop normally before birth. These defects may or may not have a disruptive effect on a person’s circulatory system. If they do, blood flow can slow down, go in the wrong direction or to the wrong place, or be blocked completely. Some of these defects are simple and may not cause problems; while others are complex or critical and may cause life-threatening complications.

Advances in diagnosis and treatment mean most babies who once died of congenital heart disease survive well into adulthood. However, signs and symptoms of the condition can occur in adults later in life, even those who had treatment as a child. It's also possible that problems in your heart, which weren't serious enough to repair when you were a child, have worsened and now require treatment. Therefore, it is important to check with your doctor to determine how often you should be seen as an adult.

Types of Congenital Heart Disease

There are many types of congenital heart defects. They range from simple to complex or critical. Congenital heart defects can also be divided into major groups:

  • Cyanotic: Heart defects in which blood pumped to the body contains less-than-normal amounts of oxygen, resulting in a condition called cyanosis. Cyanosis causes a blue discoloration of the skin. Some of the most common forms of cyanotic CHD include:
    • Tetralogy of the fallot: A heart defect that features four problems:
      • Ventricular septal defect: In normal development, the wall between the heart chambers closes before the fetus is born. When the hole does not close, it may cause higher pressure in the heart or reduce oxygen to the body.
      • Pulmonary valve stenosis: Blood going from the heart to the lungs goes through the pulmonary valve, whose purpose is to prevent blood from flowing back to the heart. In pulmonary valve stenosis this opening is too narrow, leading to a reduction of flow of blood to the lungs.
      • Overriding aorta: In this condition, the aorta is positioned directly over a ventricular septal defect (VSD), instead of over the left ventricle (heart’s lower chamber). This results in the aorta receiving some blood from the right ventricle, causing mixing of oxygenated and deoxygenated blood, and thereby reducing the amount of oxygen delivered to the tissues.
      • Right ventricular hypertrophy: In this condition, the muscle on the right side of your heart becomes thickened and enlarged. When your heart gets larger, it’s more prone to wear out. This larger size can increase blood pressure in your heart, which increases the force placed on arteries and blood vessels throughout the rest of your body.
    • Transposition of the great arteries: Transposition of the great arteries is a serious but rare heart defect in which two large arteries that carry blood out of the heart are reversed (transposed).There are two different types:
      • D-Transposition of the great arteries: A normal blood pattern carries blood in this specific cycle: body-heart-lungs-heart-body. In D-transposition, the blood flow cycle is impaired and stuck in either: body-heart-body (without being routed to the lungs for oxygen) or lungs-heart-lungs (without delivering oxygen to the body).
      • I-Transposition of the great arteries: In this condition, there’s a reversal in the normal blood flow pattern. I-transposition is less dangerous than a D-transposition because the great arteries are also reversed. This “double reversal” allows the body to still receive oxygen-rich blood and the lungs to receive the oxygen-poor blood.
    • Pulmonary atresia: Normally, the pulmonary valve is found between the right ventricle (heart’s lower chamber) and the pulmonary artery. It has 3 leaflets that function like a one-way door, allowing blood to flow forward into the pulmonary artery and to the lungs, but not backward into the right ventricle. In pulmonary atresia, the pulmonary valve does not exist, and the only blood receiving oxygen is the blood that is diverted to the lungs through openings that normally close during development.
  • Acyanotic: Heart defects not accompanied by cyanosis. They do not interfere with the amount of oxygen or blood that reaches the body’s tissues. Some of the most common forms of acyanotic CHD include:
    • Atrial septal defect (ASD): A hole in the wall between the atria (heart’s upper chamber) which allows oxygen-rich blood to leak into the oxygen-poor blood chambers in the heart.
    • Ventricular septal defect (VSD): In normal development, the wall between the heart chambers closes before the fetus is born. When the hole does not close, it may cause higher pressure in the heart or reduce oxygen to the body.
    • Patent ductus arteriosus (PDA): PDA is a persistent opening between the two major blood vessels leading from the heart. The opening, ductus arteriosus, is a normal part of a baby's circulatory system before birth. This opening usually closes shortly after birth. If it does not, PDA occurs, which eventually causes weakening of the heart muscle.

Congenital Heart Disease Patent Ductus Arteriousus

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Causes of Congenital Heart Disease

Doctors often do not know why congenital heart defects occur. However, certain conditions, traits or habits may play a role in raising your risk for CHD. These conditions are known as risk factors and include:

Non-modifiable risk factors: These factors are irreversible and cannot be changed. The more of these risk factors you have, the greater your chance of developing CHD.

  • Family history/Genetics
  • Mother’s health during pregnancy

Modifiable risk factors: These factors can be modified, treated or controlled through medications or lifestyle changes.

  • Alcohol and/or drug abuse during pregnancy
  • Mother’s diabetes

Other conditions that contribute to development of CHD

  • Certain medications, such as those used to treat bipolar disorder, acne and seizures.
  • Deficiency in vitamin B folic acid which can lead to neural tube deficiencies and loss of blood amount.
  • Rubella-German measles: a viral infection to the mother in first trimester of pregnancy.

Symptoms of Congenital Heart Disease

Some congenital heart defects cause few or no signs and symptoms. Since more children with congenital heart defects are living longer, we now know that complications can develop later in life. Signs, symptoms, and complications will vary based on the type of congenital heart defect that you or your child have. Signs and symptoms may be different for newborns and adults. They also depend on the number, type, and severity of the heart defect. However, some of the more common signs and symptoms include:

  • Dizziness
  • Fatigue
  • Heart murmurs: are whooshing or swishing noises your doctor will hear through a stethoscope.
  • Getting tired easily during physical activity
  • Blueish color to your lips and skin (cyanosis)
  • Rapid breathing
  • Shortness of breath during physical activity
  • Poor blood circulation

Diagnosis of Congenital Heart Disease

Some congenital heart defects are diagnosed during pregnancy or soon after birth. Others may not be diagnosed until adulthood. Your or your child’s doctor will start the diagnosis process by performing a physical exam. During the physical exam, the doctor will look for signs of a heart defect, look at your baby’s general appearance and listen to your or your child’s heart and lungs with a stethoscope. If your doctor hears a heart murmur (whooshing or swishing sound), he or she may order the following:

Diagnostic tests and procedures

Treatment of Congenital Heart Disease

Treatment will depend on which type of congenital heart defect you have. Many heart defects do not require treatment at all. However, children with critical congenital heart defects will need surgery in the first year of life. Some people with congenital heart defects may need treatment throughout their lives. All people with congenital heart defects should be followed-up by a cardiologist throughout their whole life. Treatment options include:

Lifestyle changes

  • Never smoke
  • Eat a heart-healthy diet
  • Exercise under the directions of your doctor.
  • If you're overweight, talk to your doctor about weight-loss options.
  • Manage stress
  • Make and keep appointments to see your doctor for routine check-ups and follow-up tests.

Medications

  • Diuretics “water pills” will help reduce the amount of fluid retention in your body.
  • ACE inhibitors will help dilate your blood vessels and reduce blood pressure.
  • Beta blockers will help reduce your blood pressure.
  • Antiarrhythmic medications will help control your heart’s rhythm.
  • Anticoagulants “blood-thinners” will help treat, prevent, and reduce blood clotting.

Medical and surgical procedures

Clinical trials

COMPASSION PAS

Newark Beth Israel Medical Center
201 Lyons Avenue at Osborne Terrace
Newark, NJ 07112
(973) 926-7000
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Children's Hospital of New Jersey at Newark Beth Israel Medical Center
201 Lyons Avenue at Osborne Terrace
Newark, NJ 07112
(973) 926-7000
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