Definition
A congenital heart defect is a birth defect of the heart. Birth defects of the heart are the most common overall birth defects, occurring in about 1 out of every 150 children. Congenital heart defects may include a wide variety of heart defects, for example holes in the walls of the heart, abnormalities of the heart valves, underdevelopment of certain heart chambers, or persistence of normal in utero structures that failed to close after birth.
Fortunately, the majority of congenital heart defects are minor. These may include such heart lesions as a small ventricular septal defect, certain forms of atrial septal defect, certain forms of patent ductus arteriosus, and many instances of pulmonary valve stenosis. In many cases, minor congenital heart defects present with the finding of an asymptomatic heart murmur.
More major forms of congenital heart defects include such lesions as a larger ventricular septal defect, coarctation of the aorta, transposition of the great arteries, tetralogy of Fallot, tricuspid atresia, and heterotaxy syndrome.
Cause
The cause of most congenital heart defects is unknown. The heart forms very early during development in the womb, in the first few weeks of gestation. A number of different factors have been identified as potentially causing congenital heart defects, including alcohol, certain drug exposures, as well as genetic defects. However, the vast majority of congenital heart defects go unexplained.
Signs and Symptoms
Signs and symptoms of a congenital heart defect can vary based on the underlying heart problem. Cyanotic heart defects often present with cyanosis, a blue discoloration of the skin. Other more significant congenital heart defects may present with symptoms such as rapid breathing, sweating, or slow weight gain. Most children with minor congenital heart defects have no symptoms whatsoever. Often these children are detected by the presence of an asymptomatic heart murmur.
Diagnosis
Most congenital heart defects can be diagnosed by the use of an echocardiogram. Many major forms of congenital heart disease are now identified in the womb by the use of a fetal echocardiogram. A fetal echocardiogram can be performed as early as 18 weeks gestation. Occasionally more invasive testing is necessary for diagnosis, for example a cardiac catheterization.
Treatment
Treatment of congenital heart defects depends on the underlying problem. Most major congenital heart defects require surgery. Minor congenital heart defects may require no treatment whatsoever.
Prognosis
Fortunately in this day and age the prognosis for most children diagnosed with congenital heart disease is good. Even those who ultimately require surgery tend to do very well long-term. Advancements in technology and surgery over the past 50 years have allowed for significantly improved outcomes for the vast majority of children with congenital heart defects.