Congenital Heart Defects
What are congenital heart defects?
What are the symptoms of congenital heart defects?
What causes congenital heart defects?
How are congenital heart defects diagnosed?
How can congenital heart defects be treated?
Congenital defects of the heart are structural abnormalities present since birth; they can affect many parts of the heart. Some require no repair, some are fairly easy to repair, and some are complex and life-threatening. Very serious congenital heart defects must be treated in infancy, but some don't become a problem until many years later; sometimes, a repair made in infancy requires reoperation in adulthood.
Adult congenital defects of the heart that are treated at Dartmouth-Hitchcock include the following conditions:
- Aortic valve stenosis, which means the flaps of the valve between the heart's left ventricle and the aorta are thickened, stiff or stuck together and are thus unable to open completely; this partially blocks the flow of blood into the aorta.
- Bicuspid aortic valve (BAV), which means the aortic valve has just two flaps, rather than the normal three (the triangle-shaped flaps are also known as cusps, from the Latin word for "point"—so "bicuspid" means "having two flaps.") Almost half the people who have aortic valve stenosis also have a BAV; it is the most common congenital heart defect.
- Pulmonary valve stenosis, a blockage in the valve between the right ventricle and the artery that transports blood to the lungs.
- Atrial septal defect (ASD), a hole in the atrial septum, or the wall separating the heart's two upper chambers.
- Patent foramen ovale (PFO), a specific kind of ASD.
- Ventricular septal defect (VSD), a hole in the ventricular septum, or the wall separating the heart's two lower chambers.
- Ebstein's anomaly, which means the flaps of the tricuspid valve, between the heart's right atrium and right ventricle, are improperly formed and/or placed. This often causes the blood to flow backward from the ventricle into the atrium. In addition, Ebstein's anomaly is often accompanied by an ASD.
- Tetralogy of Fallot, a rare and complex condition that involves four defects—a large VSD, pulmonary valve stenosis, enlargement of the right ventricle, and a defect in the aorta.
Defects in the structure of the heart are the most common kind of birth defect. Every year, more than 35,000 babies with congenital heart defects are born in the U.S., according to the National Institutes of Health. In many cases, however, the defect is not identified until later. More than a million adults have a congenital heart defect.
Symptoms of a disease are indications that can be detected by the patient, such as pain or fatigue (while signs are indications that can be detected by a doctor, such as the results of a blood test or an X-ray). Sometimes congenital heart defects cause few or no symptoms (or signs), while sometimes symptoms develop gradually and the condition requires eventual treatment. Severe defects, however, may be evident even in a newborn—due to such factors as unusually rapid breathing; cyanosis (a bluish tinge to the skin, lips and fingernails, caused by incomplete oxygenation of the blood); fatigue or tiredness; or poor circulation—and may require immediate medical attention.
A baby with a congenital heart defect may also gain weight and grow more slowly than an average infant. And an older child or an adult with a congenital heart defect may tire or get short of breath more easily than is normal.
Congenital heart defects typically do not cause chest pain or any other sort of pain. However, many such defects make the heart muscle work harder than it typically needs to; this can lead to congestive heart failure. And defects of the septum can allow blood clots to travel easily between the heart's chambers, possibly leading to a stroke or heart attack.
In most cases of a congenital heart defect, there is simply no way of knowing what caused it.
However, smoking during pregnancy is associated some congenital heart defects, including defects in the septum. It is also thought that heredity may play a role in some defects. And babies born with certain genetic conditions, such as Down syndrome, have a higher incidence of congenital heart defects.
In the case of severe defects, signs of the condition may be evident even in a newborn, as noted above. In the case of less severe, symptomless defects, they may be identified later in childhood, when a doctor detects a heart murmur (a “swooshing” sound perceptible through a stethoscope); however, not all murmurs indicate the presence of a congenital defect.
Sometimes an individual with a congenital heart defect will reach adulthood before its presence is suspected. Or sometimes an individual with a defect that was repaired in infancy or childhood will begin to have symptoms again later in life.
The diagnosis of a congenital heart defect starts with a thorough physical exam and a detailed medical and family history. Your doctor will also likely conduct diagnostic tests, including pulse oximetry (which measures how well oxygenated your blood is); an echocardiogram (an ultrasound image of your heart); an electrocardiogram (also referred to as an ECG or EKG, which measures and records your heart's electrical activity); a chest X-ray; or an angiogram (also referred to as cardiac catheterization), which uses opaque dye to image your cardiovascular system.
Many congenital heart defects don't require any treatment. If a congenital defect causes symptoms severe enough that treatment is required, medication may relieve some of the symptoms.
In the case of defects that need surgical repair, the procedure will vary, depending on the type and severity of the defect. Sometimes, a defect that was repaired in infancy or childhood will again start to cause problems later in life; in such situations—due to the significant advances in surgical technology and processes that have occurred over the past several decades—a reoperation may well be advisable.
In some cases, the repair (or re-repair) of a congenital heart defect can be accomplished via a catheter, a thin tube that is inserted into a blood vessel and threaded through the circulatory system to the location of the defect; the benefit of a procedure performed via catheter is that the incision is tiny, and thus the recovery period is easier and shorter. But in other cases, the repair (or re-repair) must be accomplished via open-heart surgery. Both catheter and open-heart procedures are performed at Dartmouth-Hitchcock.
Page reviewed on: Jun 26, 2015
Page reviewed by: Jock McCullough, MD
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