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Heart failure
Mutations in giant gene a major cause of familial DCM
Feb 17, 2012 09:45 EST
They probably account for more than a fifth of idiopathic dilated-cardiomyopathy cases, say researchers, pioneers of genetic variation in a massive protein that is a major player in myocardial contraction.

Boston, MA - Mutations in the gene TTN, which is encoded for the sarcomeric protein titin and a recognized cause of familial dilated cardiomyopathy (DCM), are responsible for a surprisingly large share of nonischemic DCM cases, conclude researchers in the February 16, 2012 issue of the New England Journal of Medicine [1].

By themselves, the titin mutations seem to account for about 22% of what's been traditionally referred to, with waning accuracy, as "idiopathic" DCM, according to senior author Dr Christine E Seidman (Harvard Medical School, Boston, MA).
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