Genetic counseling in congenital heart disease

Recommendations for the general practitioner would-include answering parents' questions with some of the information in this article in mind, outlining that although the defect did occur, for most individuals, there is no identifiable cause. This may or may not be helpful to the parents, but it is the current state of knowledge at this time. It would never be proper to tell a family that the defect could never happen again, but for the majority of parents who have given birth to a child with a single isolated heart defect, the chances are fairly high that the next child will not have a heart defect. If there is significant concern about a current pregnancy, a fetal echocardiogram can provide important information. The presence of a cardiac defect in and of itself constitutes a major birth defect and should stimulate the search for other problems. When other anomalies are found and an identifiable syndrome is present, then care of the infant is dictated by the heart defect along with other features of the syndrome. Of note, when a syndrome that frequently has a heart defect in its spectrum of anomalies is identified, it is quite reasonable to perform a thorough cardiovascular evaluation to determine whether a cardiac defect is present. For example, all children with Down syndrome should have a thorough cardiac evaluation early in life, including a cardiac ultrasound. Knowledge about the genetics and etiology of cardiac defects is changing yearly. By the end of the decade, it is expected that more information will be available for physicians to pass on to the families of children born with congenital heart defects.