Genetics and congenital heart disease: perspectives and prospects

Center for Medical Genetics, Johns Hopkins University School of Medicine, Baltimore, Maryland.

Elucidating the role of genes in the ontogenesis of the cardiovascular system is a task that involves many fields of inquiry. Recent dramatic advances in the molecular biology of transcription and its variations and the prospects for sequencing the entire human genome must not induce complacency; the major task of determining how a one-dimensional code specifies a three-dimensional structure demands an understanding of biologic systems considerably beyond the current level. The study of pathologic cardiovascular ontogeny is equally in need of new insight and fresh approaches. Although all clinicians might agree that genes are important contributors to both the etiology and the pathogenesis of congenital heart defects, with the exception of a few Mendelian conditions, this knowledge cannot be put to practice beyond crude statements of empirically determined probabilities. In this review, we selectively examine studies that are addressing what we perceive as provocative issues and suggest some areas, such as chaos theory, in which new ideas might be found.

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