The genetic background of cardiovascular malformations is discussed. Congenital heart disease may occur as a consequence of chromosomal anomalies and of single Mendelian gene defects, respectively. However, in the vast majority of cases, the hypothesis of multifactorial inheritance is the most plausible one. The rules of genetic counselling, which plays an increasingly important role in pediatric cardiology, are briefly outlined. In those cases which fit the multifactorial inheritance hypothesis, counselling depends on empiric recurrence risks.
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