Reproductive care

Concern with reproductive care of people with congenital heart disease has three components:

  • the specific risks of certain contraceptive methods
  • the risks of pregnancy in women with congenital heart disease
  • the risk of recurrent congenital heart disease in the offspring of men and women with congenital heart disease

The high risks of unprotected sexual activity must be shared with patients as with all others, considering also the added burden of cardiovascular complications which have been experienced with certain contraceptive methods; there maybe increased risk of thrombotic episodes in the use of hormonal contraceptives, of bacterial endocarditis with intrauterine devices, and a special risk in patients with certain diagnoses, such as pulmonary hypertension.

Pregnancy is well tolerated in women with mild defects or in those with corrected defects, but remains elevated in those with persistent circulatory changes which may result in complications and even death of the mother and fetus (Siu, 2001). A multicenter study in Canada, developed risk assessment criteria valid for the population with uniformly available health care in that country. The risks included rhythm disturbances, stroke, heart failure, hypertension which affected 13% of the 562 women followed (Siu, 2001).

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Recurrence in Offspring

As soon as the first generation of young patients with operated heart disease began to grow up their most important question concerned their future parenthood: could they have children and would their children be free of heart disease? This stimulated their physicians to conduct follow-up evaluations which gave cause for concern as the rate of congenital heart disease in the second generation was clearly in excess of that found in the general population (Rose, 1985, Whittemore, 1994). The many individual and even the systematically collected cases in clinic populations have, however, not yet permitted the generalization of results to specific focus groups of interest, by types of cardiac malformations or other predictive factors.

The rapidly advancing knowledge in genetics is beginning to clarify some of the clinical observations regarding the familial occurrence of congenital heart disease. Many more years of research will be needed before we understand the genetic contributions to embryonic development, and, specifically, to the formation of the heart. But it is important, now to conduct a careful genetic evaluation of adults with congenital heart disease, especially those in whom other members of the family have congenital heart disease or any other birth defects, in order to advise them of the risk of recurrence in their offspring. This recommendation is now enhanced with the recent release of the U.S. Surgeon General’s Family History Initiative.

In recent years many genetic studies have identified specific genes associated with complexes of abnormalities including congenital heart disease. These horizons of knowledge will greatly expand and emphasize the ever greater need to evaluate the genetic background of adults with congenital heart disease to assess their risk of having children with birth defects. A careful history and genetic counseling must be advised for all patients.

The Surgeon General’s Family History Initiative will provide a great impetus to the care and guidance of families with congenital heart disease and will in time unravel crucial predictive information.

Selected References