Genotype-phenotype correlation in congenital heart disease

The understanding of the etiology of congenital cardiac lesions is rapidly progressing from the recognition of embryologic origins to insight into the genetic basis for these disorders. Concurrently, in this era, great effort is being expended to gather data that will generate clinically useful genotype-phenotype correlation. This rapidly evolving area of inquiry, in which the clinical implications of mutation status are fully explored, makes available information applicable to those involved in all aspects of congenital cardiac disease.

Three syndromes with cardiovascular phenotypes were selected for review. Each has received a great deal of attention in the recent past based on improved understanding of the range of mutations expressed and the relation of these mutations to clinical findings. These three syndromes--Noonan, Marfan, and long QT syndrome--span the range of congenital heart disease and provide examples of genotype-phenotype correlation.

Better understanding of the clinical implications of specific mutations should allow not only for more sensitive and specific diagnoses to be made but also for improvements in therapeutic options and efficacy.