Congenital heart diseases are defects, malformations, or developmental problems present since birth. Many defects occur before birth during cardiac development. Approximately 1% of patients are born with congenital defects, making heart defects the most common form of congenital defect seen at birth.
- Overview of Congenital Heart Defects
- Types of Congenital Heart Defects
- Risk Factors for Congenital Heart Defects
- Diagnosing Congenital Heart Defects
- Treating Congenital Heart Defects
- Monitoring Patients with Cardiovascular Disease
- Rehabiliation for Patients with Congenital Heart Defects
Most patients with congenital heart disease have valvular involvement. However, patients can also develop valvular disorders that are not congenital. For example, valvular stenosis may either by congenital or non-congenital (as a result of atherosclerosis, when calcium deposits cause arteries to narrow). Myxomatous degeneration, weakening of a valve that leads to valvular regurgitation (leakage), can also be acquired and is most common in elderly patients. Hypertension, congestive heart failure, endocarditis (heart inflammation), and rheumatic fever may also contribute to non-congenital valve disorders.
The cause of most congenital heart defects is still unknown. However, during pregnancy, certain medications (such as Accutane, lithium, anti-seizure therapies), alcohol or drug abuse, viral infections (such as rubella), or certain diseases (such as diabetes) have been linked to an increased risk of congenital heart defects in children. Also, certain genetic conditions such as Down’s syndrome may cause some defects in children. Family incidence of congenital heart disease significantly increases the risk that children will be born with defects. Some congenital heart defects are not discovered until adolescence or adulthood, when patients present symptoms.
Symptoms of congenital heart defects vary depending on the defect. Cyanosis, the bluish appearance of the skin, lips and fingernails, signals a number of congenital defects including pulmonary stenosis (PS), pulmonary atresia, tetralogy of fallot, hypoplastic left heart syndrome (HLHS), total anomalous pulmonary venous return (TAPVR) and others. Low blood pressure may also indicate a congenital heart defect. Mild defects may be diagnosed during routine pediatric office visits when children exhibit symptoms such as breathing difficulties, feeding problems, or poor weight gain.
The most common congenital malformations are septal defects (either atrial septal defect (ASD) or ventricular septal defect (VSD)), transposition of the great arteries, and patent ductus arteriosus (PDA). Click here to learn more about the types of congenital heart defects.
Several diagnostic tests are used to confirm the presence of a defect, including echocardiogram (heart ultrasound), electrocardiogram (ECG or EKG), chest x-ray, and coronary angiography. Treatment depends on the type of defect and its severity.
Most defects respond well to treatment. Treatment options include drug therapy with diuretics, ACE inhibitors, digoxin, prostaglandin, indomethacin, etc. In addition, catheter procedures or surgical treatment is necessary in many instances. These procedures include coronary angioplasty, arterial switch, balloon atrial septostomy, balloon valvuloplasty, Damus-Kay-Stansel procedure, Fontan procedure, pulmonary artery banding, Ross procedure, shunting or venous switch/intra-atrial baffle.
The prognosis for congenital heart defects has improved dramatically in recent years with advances in diagnostic and therapeutic techniques. For example, in the 1960s and 1970s, the risk of death from congenital heart surgery was 30% compared to 5% today. However, individual prognosis depends on the severity of the defect and whether a method is available to treat the condition. Many patients who are treated for defects will need lifelong cardiac monitoring.
Updated: February 2011
