Congenital Heart Disease

Basic Facts

  • Congenital heart disease is a term used to describe a number of different heart defects that are present from birth.
  • Congenital heart defects change the flow of blood through the heart. 
  • Congenital heart defects range from simple, with no symptoms, to complex with life-threatening symptoms. 
  • Congenital heart disease can cause problems in children immediately after they are born. Some defects heal in childhood. Still other defects can become more abnormal with age and can cause symptoms and problems in adulthood.

With congenial heart disease, problems with the heart’s structure can include:  

  • Abnormally shaped blood vessels,
  • Missing or defective valves,
  • Abnormal connections between the heart and the main arteries and veins, and/or
  • Defects of the walls that separate the chambers of the heart.

Different types of congenital heart disease are classified into several categories including:  

  • Atrial and ventricular septal defects – With these defects, holes in the heart walls prevent blood from flowing properly. 
  • Coarctation of the aorta – This defect is characterized by a narrowing of the major artery (the aorta) that carries blood to the body.
  • Aortic, mitral, pulmonic, and tricuspid valve defects – These conditions involve problems with one or more of the heart’s four valves.
  • Tetralogy of Fallot – With this complex heart defect, not enough blood is able to reach the lungs to get oxygen, and oxygen-poor blood is circulated to the body.

 

Symptoms vary, depending on the defect.

Septal defects
In childhood, there may be few, if any, symptoms. Teens and adults may experience the following: 

  • Palpitations,
  • Fatigue,
  • Shortness of breath, and
  • Heart murmur.

Coarctation of the aorta
Symptoms may include: 

  • Dizziness,
  • Fainting,
  • Nosebleeds,
  • Headaches,
  • Cold feet or legs,
  • Leg cramps while exercising,
  • Localized hypertension, and
  • Low stamina.

Aortic valve defects
People with aortic stenosis, or narrowing, may not experience any symptoms until they develop congestive heart failure. Those with aortic regurgitation, a type of valve defect, may experience the following: 

  • Palpitations,
  • Chest pain, and
  • Night sweats.

Mitral valve defects
People with mitral valve defects may not display symptoms until their 30s, when they may experience: 

  • Fatigue,
  • Weakness,
  • Ankle swelling,
  • Congestion,
  • Shortness of breath while lying down or after exercise,
  • Palpitations,
  • Chest discomfort,
  • Lightheadedness,
  • Loss of consciousness, and
  • Symptoms of heart failure.

Pulmonic valve defects
When pulmonic stenosis is severe, people may experience: 

  • Shortness of breath while exercising,
  • Fatigue,
  • Swelling in the arms, legs, and abdomen,
  • Audible heart murmur, and
  • Cyanosis (bluish skin color).

Tricuspid valve defects
The symptoms of tricuspid stenosis include: 

  • Upper right abdomen discomfort,
  • Fatigue,
  • Weakness,
  • Shortness of breath,
  • Fluid retention,
  • Nausea,
  • Vomiting, and
  • Cyanosis.

Those with tricuspid regurgitation may also have an enlarged liver.

Tetralogy of Fallot
Symptoms that may indicate Tetralogy of Fallot include: 

  • Cyanosis,
  • Anxiety,
  • Breathing difficulties,
  • Loss of consciousness after activity,
  • Bulging nail beds, and
  • Symptoms of congestive heart failure.

The exact cause of congenital heart defects is largely unknown, but many experts believe that genetic and environmental factors play a role.

Risk factors that can increase the chances that an infant will be born with congenital heart disease include: 

  • Excessive alcohol consumption by a pregnant woman,
  • Certain infections occurring during pregnancy, such as rubella.

A physician diagnoses congenital heart disease by evaluating the person's medical history and symptoms, and by using a variety of tests, which include: 

  • Blood count and hematocrit
  • Chest x ray
  • Duplex Ultrasound – With this test, painless ultrasound waves allow doctors to measure the speed of blood flow and to see images of blood vessels. 
  • Echocardiography – This test uses sound waves to create a moving picture of the heart, showing its size and shape, as well as how the heart chambers and valves are working.
  • Electrocardiography (ECG) – This noninvasive test records the electrical activity of the heart.
  • Computed Tomography (CT) Scan – This test uses x-rays to produce detailed views of the arteries.
  • Magnetic Resonance Imaging (MRI) - Magnetic and radio wave energy take pictures of blood vessels to show location and severity of blockage.
  • Cardiac Catheterization - Cardiac catheterization involves the insertion of a thin tube called a catheter into an artery. The catheter is threaded through the arterial system to the arteries in the heart, where physicians use it to collect information about the heart's blood supply or to assess or treat other cardiac problems.

 

Many people with congenital heart defects are treated with medications. Some of the most commonly prescribed medication groups are: 

  • Diuretics, which reduce fluid retention, 
  • Beta-blockers, which lower blood pressure and heart rate, reducing the workload on the heart,
  • Digitalis, which regulates the heart's rate and rhythm and strengthens the force of heart contractions,
  • Anticoagulants, which inhibit blood clot formation by preventing the clumping of platelets in the blood, and

Angiotensin converting enzyme (ACE) inhibitors, which help widen blood vessels, increasing the amount of blood the heart pumps and lowering blood pressure. 

Surgery
Surgery can correct many congenital heart defects. Often, a procedure is performed while the patient is under general anesthesia and usually lasts two to five hours. Some repairs can be made with a catheter; others require open-heart surgery.

Septal defects - If the hole in the septum is small, it can be closed using a special thread made of a polymer material. For larger defects, the surgeon will use a synthetic fabric patch or the patient's own pericardium, or pericardium from a cow or other animal.

Some atrial septal defects can be corrected using a synthetic patch.

Coarctation of the aorta - Surgical correction includes removing the narrowed segment of the aorta and connecting the two ends or by placing a synthetic graft.

Valvular defects - Heart valves can either be repaired or replaced with a tissue or mechanical valve.

Tetralogy of Fallot - Surgery to widen the pulmonary valve and correct ventricular septal defect is usually recommended to treat Tetralogy of Fallot. These patients require lifelong follow up because of leaking of the pulmonary valve and occasional other issues that require monitoring, including right heart size and possible abnormal rhythms.

Other Conditions - Many other congenital abnormalities are beyond the scope of this section, since they occur rarely.

Meet the Congenital Heart Specialists: