Congenital heart disease, heritable cardiovascular disease, and pregnancy

Abstract

P ROFOUND CHANGES in the population of women with heart disease and pregnancy occurred in the Western world during the 20th century as the incidence of rheumatic heart disease decreased and the recognition of congenital heart disease increased. A new population at risk resulted from the increased survival of women with congenital heart disease. Recognition of this new population resulted from more precise diagnoses and the use of surgical and medical therapy. Increased awareness of the wide range of heritable cardiovascular disease resulted primarily from phenotypic family studies; however, modern diagnostic and genetic techniques give promise for more objective methods of diagnosis and for genetic counseling. Advances in obstetrics and anesthesia have decreased the direct risks of pregnancy in these patient groups and widened the range of clinical experiences. Prospective fetal studies demonstrated higher incidence figures for congenital cardiac defects in the offspring of parents with congenital heart disease than previously appreciated. Limited understanding of the pathogenesis of most congenital and heritable cardiovascular defects has stimulated extensive research in cardiac morphogenesis and embryogenesis. The incorporation of developing genetic, biochemical, and molecular techniques into the diagnostic evaluation and long-term study of these overlapping patient groups and their offspring give promise of further understanding of normal and abnormal embryogenesis and of placing genetic counseling on a firm, scientific basis.