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• W2042956968 abstract "Hypertrophic cardiomyopathy (HCM) is an autosomal dominant disorder caused by mutations in cardiac sarcomeric proteins. Troponin I (TNNI3) and troponin T (TNNT2) are important parts of the sarcomere in heart muscle, and mutations in their genes are responsible for development of HCM. The prevalence of mutations in these two genes is low; hence, the data on clinical outcome are scarce. Yet, some of these mutations were shown to be malignant with a high incidence of sudden death. Here, we describe the disease course in three families affected with TNNI3 and one family with TNNT2 gene mutations. In TNNI3–HCM, the phenotypic manifestation ranged from clinically silent to sudden cardiac death with the worst prognosis observed in carriers of Ala157Val mutation in exon 7. In contrast, TNNT2–HCM was associated with favorable prognosis. Thus, the findings of the present study add evidence on the phenotypic presentation of this genetic disease." @default.
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• W2042956968 date "2009-10-01" @default.
• W2042956968 modified "2023-10-16" @default.
• W2042956968 title "Low Prevalence and Variable Clinical Presentation of Troponin I and Troponin T Gene Mutations in Hypertrophic Cardiomyopathy" @default.
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• W2042956968 doi "https://doi.org/10.1089/gtmb.2009.0041" @default.
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