Hypertrophic Cardiomyopathy Genetic Advances And Their Clinical Implications

Abstract

Introduction:
In 1958 Teare described marked asymmetrical cardiac hypertrophy in eight unrelated young adults whodied suddenly (Teare 1958). This report stimul ated the characterization of a syndrome, now termed hypertrophic cardiomyopathy (HCM). However, diagnostic criteria, like many aspects of this condition, continue to amuse controversy.

Methods of screening:
A number of methods are available to screen for HCM: clinical, electrocardiographic, echocar diographic and, recently, the possibility of genetic. Sensitivity, specificity, complications and cost are important factors to consider with any screening technique. Of the first three options, echocardio graphy is the most sensitive and specific.

Conclusion:
Recent advances in molecular biology have raised the possibilities of genetic screening, to identify individuals at an early stage, and genetic prognosis prediction. This, however, is currently limited to a minority of patients. Screening in these individuals should be carried out only as part of research trials studying the natural history of the disease and the effects of treatment.