Late-onset hypertrophic cardiomyopathy caused by a mutation in the cardiac troponin T gene

PM Elliott, L D'cruz, WJ Mckenna - New England Journal of …, 1999 - Mass Medical Soc
PM Elliott, L D'cruz, WJ Mckenna
New England Journal of Medicine, 1999Mass Medical Soc
To the Editor: Familial hypertrophic cardiomyopathy is a heterogeneous disease caused by
mutations in eight different genes that encode cardiac sarcomeric proteins. Relatives of
affected persons are at low risk for the disease in later life if the electrocardiographic and two-
dimensional echocardiographic findings are normal in early adulthood. The only reported
exceptions are patients with mutations in the gene for cardiac myosin-binding protein C, in
whom the disease typically develops in middle age. 1, 2 We describe a 57-year-old man …
To the Editor: Familial hypertrophic cardiomyopathy is a heterogeneous disease caused by mutations in eight different genes that encode cardiac sarcomeric proteins. Relatives of affected persons are at low risk for the disease in later life if the electrocardiographic and two-dimensional echocardiographic findings are normal in early adulthood. The only reported exceptions are patients with mutations in the gene for cardiac myosin-binding protein C, in whom the disease typically develops in middle age.1,2 We describe a 57-year-old man with hypertrophic cardiomyopathy caused by a mutation in the gene for troponin T.
The patient presented with a three-year history of . . .
The New England Journal Of Medicine