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Previous Volume 332:1058-1065 April 20, 1995 Number 16 Next

Mutations in the Genes for Cardiac Troponin T and -Tropomyosin in Hypertrophic Cardiomyopathy

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ABSTRACT

Background Familial hypertrophic cardiomyopathy can be caused by mutations in the genes for cardiac myosin heavy chain, -tropomyosin, or cardiac troponin T. It is not known how often the disease is caused by mutations in the tropomyosin and troponin genes, and the associated clinical phenotypes have not been carefully studied.

Methods Linkage between polymorphisms of the -tropomyosin gene or the cardiac troponin T gene and hypertrophic cardiomyopathy was assessed in 27 families. In addition, 100 probands were screened for mutations in the -tropomyosin gene, and 26 were screened for mutations in the cardiac troponin T gene. Life expectancy, the incidence of sudden death, and the extent of left ventricular hypertrophy were compared in patients with different mutations.

Results Genetic analyses identified only one -tropomyosin mutation, identical to one previously described. Five novel mutations in cardiac troponin were identified, as well as a further example of a previously described mutation. The clinical phenotype of four troponin T mutations in seven unrelated families was similar and was characterized by a poor prognosis (life expectancy, approximately 35 years) and a high incidence of sudden death. The mean (±SD) maximal thickness of the left ventricular wall in subjects with cardiac troponin T mutations (16.7±5.5 mm) was significantly less than that in subjects with cardiac myosin heavy-chain mutations (23.7±7.7 mm, P<0.001).

Conclusions Mutations in -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.

Source Information

From the Howard Hughes Medical Institute, Boston (H.W., L.T., H.J.S., R.A., J.G.S., C.E.S.); the Cardiovascular Division, Brigham and Women's Hospital, Boston (H.W., R.A., C.E.S.); the Department of Cardiological Sciences, St. George's Hospital Medical School, London (H.W., W.J.M., A.O.); the Department of Genetics, Harvard Medical School, Boston (L.T., H.J.S., J.G.S.); Franz Volhard Klinik and Max Delbrück Centrum, Berlin, Germany (L.T.); the Division of Cardiology, Ospedali Galliera, Genoa, Italy (P.S.); the Department of Internal Medicine, Kyoto University, Kyoto, Japan (A.M.); and the Center for Anesthesiology Research, Cleveland Clinic Foundation, Cleveland (C.S.M.).

Address reprint requests to Dr. Watkins at the Department of Genetics, Harvard Medical School, 200 Longwood Ave., Boston, MA 02115.

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