Basic Facts

  • Congenital heart disease is a term used to describe a number of different heart defects that are present from birth, which could 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 immediately at birth, some defects heal in childhood, and other defects can become more abnormal with age, causing 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,
  • 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 (ASD/VSD) – 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: 

  • Lightheadedness,
  • Fainting,
  • Nosebleeds,
  • Headaches,
  • Cold feet or legs,
  • Leg cramps while exercising,
  • Localized hypertension, 
  • 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 leaky valve defect, may experience the following: 

  • Palpitations
  • Chest pain
  • 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
  • Symptoms of heart failure

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

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

Tricuspid valve defects
The symptoms of tricuspid stenosis, or narrowing, include: 

  • Upper right abdomen discomfort
  • Fatigue
  • Weakness
  • Shortness of breath
  • Fluid retention
  • Nausea
  • Vomiting
  • Cyanosis (bluish skin color)

Those with tricuspid regurgitation, or a leaky valve defect, 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
  • 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 diagnosis of congenital heart disease is made by evaluating the person's medical history and symptoms, and by using a variety of tests, which include:  

  • Blood count and hematocrit – blood tests to measure the oxygen carrying capacity of the blood’s cells.

  • Chest x ray – shadow of the heart on chest x-ray may appear enlarged or abnormal,

  • Duplex Ultrasound –painless, noninvasive test that uses ultrasound waves to see images of blood vessels and to measure the speed of blood flow through them. 

  • Echocardiogram – painless, noninvasive study that uses ultrasound waves to evaluate heart structure & function in real time.  

  • ECG – noninvasive test, stickers attached to wires placed on the chest, provides a 6 second “snapshot” of heart’s electrical activity. Can be done at a visit.   In an abnormal heart, it can change the way electricity flows through it, thus changing the appearance of the ECG. 

  • 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. 

  • Catheterization - Insertion of a thin tube called a catheter into an artery. The catheter is threaded through the arterial system to the area in question, where physicians use it to collect information about the blood vessels, including the heart's blood supply (coronary arteries) 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, prevent blood clot formation
  • Angiotensin converting enzyme inhibitors (ACE inhibitors), which help widen blood vessels, increasing the amount of blood the heart pumps and lowering blood pressure

Surgery can correct many congenital heart defects. Often, a procedure is performed as an infant. Some repairs can be made with a catheter while others require open-heart surgery.

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. Most replacement valves are made from animal tissue. Some may be made from metal. The type of replacement valve selected depends on the patient's age, condition, and their specific anatomy.

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: