Article
Hypertrophic cardiomyopathy due to sarcomeric gene mutations is characterized by impaired energy metabolism irrespective of the degree of hypertrophy.
Journal of the American College of Cardiology - 21 May 2003
Crilley Jenifer G, Boehm Ernest A, Blair Edward, Rajagopalan Bheeshma, Blamire Andrew M, Styles Peter, McKenna William J, Ostman-Smith Ingegerd, Clarke Kieran, Watkins Hugh
Abstract excerpt
OBJECTIVES: We investigated cardiac energetics in subjects with mutations in three different familial hypertrophic cardiomyopathy (HCM) disease genes, some of whom were nonpenetrant carriers without hypertrophy, using phosphorus-31 magnetic resonance spectroscopy. BACKGROUND: Familial hypertrophic cardiomyopathy is caused by mutations in sarcomeric protein genes. The mechanism by which these mutant proteins cause...
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