FAMILIAL HYPERTROPHIC CARDIOMYOPATHY - DIAGNOSTIC AND THERAPEUTIC IMPLICATIONS OF RECENT GENETIC-STUDIES

Familial hypertrophic cardiomyopathy is the first primary cardiomyopat hy to have yielded to the techniques of modern molecular genetics. In the past few years, four genes responsible for this disease have been identified, all of which code for sarcomeric structural proteins. In a ddition, structure-function analysis and genotype-phenotype correlatio n studies have shed significant light on the molecular basis of this d isease. It is hoped that within the next few years the application of molecular genetic tools will not only facilitate the diagnosis of hype rtrophic cardiomyopathy but will also provide prognostic and therapeut ic stratification for more definitive therapy.