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The Evolution of Specific Genetic and Environmental Counseling in Congenital Heart Diseases

MEDICAL CONSUMERS are becoming sophisticated. After the diagnosis and prognosis have been offered, parents want to know why their child has a congenital heart defect and what the chances are of recurrence in the family. This urgent need to know why is increasing dramatically in our present lawsuit-prone atmosphere. It has been almost a decade since we tested alternative hypotheses for the etiology of congenital heart diseases and found that, in the great majority of cases, we could not disprove multifactorial inheritance as the underlying genetic mechanism.' In conducting our studies, we have collected a series of sufficient size to encourage us to propose empiric recurrence risks for various heart lesions.2 A number of other studies have been published in the same time frame which increase the still meager data base.36 The purpose of this contribution is to summarize as concisely as possible the evolution of experience, since 1968, in the development of guidelines for genetic and environmental counseling in congenital heart diseases. A more detailed presentaion of various aspects of this material will be found elsewhere.6