Article
Uptake of genetic counselling and predictive DNA testing in hypertrophic cardiomyopathy.
European journal of human genetics : EJHG - 1 Oct 2008
Christiaans Imke, Birnie Erwin, Bonsel Gouke J, Wilde Arthur Am, van Langen Irene M
Abstract excerpt
Hypertrophic cardiomyopathy is a common autosomal dominant disease, associated with heart failure and arrhythmias predisposing to sudden cardiac death. After the detection of the causal mutation in the proband predictive DNA testing of relatives is possible (cascade screening). Prevention of sudden cardiac death in patients with a high risk by means of an implantable cardioverter defibrillator is effective. In 97...
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