Understanding the molecular genetics of hypertrophic cardiomyopathy as a disease of sarcomeric contractile proteins has clarified clinical features and impacted patient management.
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May guide genetic counseling in HCM families; extends sarcomeric classification but leaves open modifier effects on penetrance.
The study of hypertrophic cardiomyopathy has been at the vanguard of molecular genetic investigation into inherited diseases of the cardiovascular system for the greater part of the last decade. These studies have shown it to be a disease of sarcomeric contractile proteins and have highlighted its genetic heterogeneity. There are now seven known genetic loci and six disease genes associated with the condition. The biology of the mutant polypeptides has been studied in vitro, and animal models are being developed. Increased understanding gained from these studies has clarified features of the condition at the clinical level and has had an impact on management of patients. It is hoped that this work will lead to the development of novel therapies for both hypertrophic cardiomyopathy and acquired forms of left ventricular hypertrophy.
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Malik et al. (1997) studied this question.
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