Clinical and morphological variables influencing the results of genetic testing of patients with hypertrophic cardiomyopathy

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F14%3A10293403" target="_blank" >RIV/00064203:_____/14:10293403 - isvavai.cz</a>

Alternative codes found

RIV/00216208:11130/14:10293403

Result on the web

<a href="http://cardiologyacademicpress.com/soap/pdf/delme_432_5301ffee660d27.71820128.pdf" target="_blank" >http://cardiologyacademicpress.com/soap/pdf/delme_432_5301ffee660d27.71820128.pdf</a>

DOI - Digital Object Identifier

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Result language

angličtina

Original language name

Clinical and morphological variables influencing the results of genetic testing of patients with hypertrophic cardiomyopathy

Original language description

Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac disease with vast genetic heterogeneity. Genetic testing of sarcomeric genes yields a positive result in a limited number of HCM patients. Methods: We tested a cohort of 48 unrelatedconsecutive patients with HCM for mutations in MYH7, MYBPC3, TNNI3 and TNNT2 genes and compared clinical and echocardiographic parameters between groups with positive and negative results of genetic testing. Results: We identified genetic variants insidethe coding exons and flanking intronic regions of the MYH7, MYBPC3, TNNI3 and TNNT2 genes in 19 of 48 HCM patients (40 %). Younger age at diagnosis (48, IQR 39.5-55.5 vs. 56, IQR 49-70, p 0.028) and reverse curvature septum (56% vs. 9%, OR 12.5, 95% CI1.760-88.78, p 0.012) were associated with a positive result of genetic testing. Sigmoid septum was associated with older age at diagnosis (60, IQR 55.75-68.75 vs. 49, IQR 38-59.5, p 0.017). Conclusion: Our study shows that septal morphol

Czech name

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

FA - Cardiovascular diseases including cardio-surgery

OECD FORD branch

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Project

<a href="/en/project/NT11401" target="_blank" >NT11401: Implications of Sleep Apnea for the Pathophysiology of Hypertrophic Cardiomyopathy</a><br>

Continuities

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year

2014

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Experimental and Clinical Cardiology

ISSN

1205-6626

e-ISSN

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Volume of the periodical

neuveden

Issue of the periodical within the volume

17 February

Country of publishing house

CA - CANADA

Number of pages

5

Pages from-to

1-5

UT code for WoS article

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EID of the result in the Scopus database

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