Low prevalence of cardiac troponin T mutations in a Greek hypertrophic cardiomyopathy cohort

Since the initial description of hypertrophic cardiomyopathy (HCM), sudden cardiac death (SCD) occurring in young and usually asymptomatic patients has received substantial attention in the literature as the most devastating consequence of the disease. Present data from non-referral centres show a b...

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Veröffentlicht in:Heart (British Cardiac Society) 2005-07, Vol.91 (7), p.966-967
Hauptverfasser: Miliou, A, Anastasakis, A, D’Cruz, L G, Theopistou, A, Rigopoulos, A, Rizos, I, Stamatelopoulos, S, Toutouzas, P, Stefanadis, C
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Sprache:eng
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Zusammenfassung:Since the initial description of hypertrophic cardiomyopathy (HCM), sudden cardiac death (SCD) occurring in young and usually asymptomatic patients has received substantial attention in the literature as the most devastating consequence of the disease. Present data from non-referral centres show a benign course of the disease with a subgroup of high risk patients. 1 Molecular genetics have reconfirmed familial HCM as being an autosomal dominant disease with hundreds of mutations in 10 genes encoding sarcomeric proteins. 1 Cardiac troponin T (TNNT2) gene mutations have been reported to be consistently associated with a malignant clinical prognosis and the prevalence has been reported to be in the region of 15-20%.
ISSN:1355-6037
1468-201X
DOI:10.1136/hrt.2003.029819