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Previous Volume 343:1688-1696 December 7, 2000 Number 23 Next

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ABSTRACT

Background The molecular basis of idiopathic dilated cardiomyopathy, a primary myocardial disorder that results in reduced contractile function, is largely unknown. Some cases of familial dilated cardiomyopathy are caused by mutations in cardiac cytoskeletal proteins; this finding implicates defects in contractile-force transmission as one mechanism underlying this disorder. To elucidate this important cause of heart failure, we investigated other genetic causes of dilated cardiomyopathy.

Methods Clinical evaluations were performed in 21 kindreds with familial dilated cardiomyopathy. A genome-wide linkage study prompted a search of the genes encoding -myosin heavy chain, troponin T, troponin I, and -tropomyosin for disease-causing mutations.

Results A genetic locus for mutations associated with dilated cardiomyopathy was identified at chromosome 14q11.2–13 (maximal lod score, 5.11; =0), where the gene for cardiac -myosin heavy chain is encoded. Analyses of this and other genes for sarcomere proteins identified disease-causing dominant mutations in four kindreds. Cardiac -myosin heavy-chain missense mutations (Ser532Pro and Phe764Leu) and a deletion in cardiac troponin T (Lys210) caused early-onset ventricular dilatation (average age at diagnosis, 24 years) and diminished contractile function and frequently resulted in heart failure. Affected persons had neither antecedent cardiac hypertrophy (average maximal left-ventricular-wall thickness, 8.5 mm) nor histopathological findings characteristic of hypertrophy.

Conclusions Mutations in sarcomere protein genes account for approximately 10 percent of cases of familial dilated cardiomyopathy and are particularly prevalent in families with early-onset ventricular dilatation and dysfunction. Because distinct mutations in sarcomere proteins cause either dilated or hypertrophic cardiomyopathy, the effects of mutant sarcomere proteins on muscle mechanics must trigger two different series of events that remodel the heart.

Source Information

From the Cardiovascular Division, Brigham and Women's Hospital, Boston (M.K., S.S., C.E.S.); the Department of Genetics, Harvard Medical School and Howard Hughes Medical Institute, Boston (M.K., S.D.S., S.R.D., P.S., B.M., J.G.S., C.E.S.); the Department of Cardiology, Children's Hospital, Boston (L.S., M.P.M.); the Cardiovascular Division, Massachusetts General Hospital, Boston (M.P.M.); the Department of Pediatrics, Westchester Medical Center, New York Medical College, Valhalla (P.K.W.); and the Department of Medicine, Toronto General Hospital, University of Toronto, Toronto (E.D.W.). Other authors were John Jarcho, M.D., Cardiovascular Division, Brigham and Women's Hospital, Boston; and Lawrence R. Shapiro, M.D., Department of Pediatrics, Westchester Medical Center, New York Medical College, Valhalla.Drs. Kamisago and S.D. Sharma contributed equally to the article.

Address reprint requests to Dr. Christine Seidman at the Department of Genetics, Harvard Medical School, Alpert Bldg., Rm. 533, 200 Longwood Ave., Boston, MA 02115, or at cseidman{at}rascal.med.harvard.edu.

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