Open AccessSevere Heart Failure and Early Mortality in a Double-Mutation Mouse Model of Familial Hypertrophic Cardiomyopathy
Author(s) -
Tatiana Tsoutsman,
Matt Kelly,
Dominic C.H. Ng,
Juen Kiem Tan,
Emily Tu,
Lien Lam,
Marie A. Bogoyevitch,
Christine E. Seidman,
J.G. Seidman,
Christopher Semsarian
Publication year - 2008
Publication title -
circulation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 7.795
H-Index - 607
eISSN - 1524-4539
pISSN - 0009-7322
DOI - 10.1161/circulationaha.107.755777
Subject(s) - medicine , hypertrophic cardiomyopathy , cardiology , heart failure , mutation , cardiomyopathy , genetics , gene , biology
Familial hypertrophic cardiomyopathy (FHC) is characterized by genetic and clinical heterogeneity. Five percent of FHC families have 2 FHC-causing mutations, which results in earlier disease onset, increased cardiac dysfunction, and a higher incidence of sudden death events. These observations suggest a relationship between the number of gene mutations and phenotype severity in FHC.
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