Why the study?
Are mutations in alpha-tropomyosin and cardiac troponin T associated with specific clinical phenotypes and sudden death risk in familial hypertrophic cardiomyopathy?
Are mutations in alpha-tropomyosin and cardiac troponin T associated with specific clinical phenotypes and sudden death risk in familial hypertrophic cardiomyopathy?
Mutations in cardiac troponin T and alpha-tropomyosin identify a subset of hypertrophic cardiomyopathy patients with mild hypertrophy but high risk for sudden death, highlighting the clinical utility of genetic testing.
Mutations in alpha-tropomyosin are a rare cause of familial hypertrophic cardiomyopathy, accounting for approximately 3 percent of cases. Mutations in cardiac troponin T account for approximately 15 percent of cases of familial hypertrophic cardiomyopathy in this referral-center population. These mutations are characterized by relatively mild and sometimes subclinical hypertrophy but a high incidence of sudden death. Genetic testing may therefore be especially important in this group.
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Watkins et al. (1995) studied this question.
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