Genetic testing in the management of relatives of patients with hypertrophic cardiomyopathy

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F26475821%3A_____%2F14%3A%230000177" target="_blank" >RIV/26475821:_____/14:#0000177 - isvavai.cz</a>

Alternative codes found

RIV/00216208:11130/14:10282742 RIV/00216208:11120/14:43908307 RIV/00064203:_____/14:10282742

Result on the web

<a href="http://fb.cuni.cz/file/5712/FB%2060%2001%2004-www.pdf" target="_blank" >http://fb.cuni.cz/file/5712/FB%2060%2001%2004-www.pdf</a>

DOI - Digital Object Identifier

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Result language

angličtina

Original language name

Genetic testing in the management of relatives of patients with hypertrophic cardiomyopathy

Original language description

Hypertrophic cardiomyopathy is the most common genetic cardiac disease with vast genetic heterogeneity. First-degree relatives of patients with HCM are at 50% risk of inheriting the disease-causing mutation. Genetic testing is helpful in identifying therelatives harbouring the mutations. When genetic testing is not available, relatives need to be examined regularly. We tested a cohort of 99 unrelated patients with HCM for mutations in MYH7, MYBPC3, TNNI3 and TNNT2 genes. In families with identified pathogenic mutation, we performed genetic and clinical examination in relatives to study the influence of genetic testing on the management of the relatives and to study the usefulness of echocardiographic criteria for distinguishing relatives with positiveand negative genotype. We identified 38 genetic variants in 47 patients (47 %). Fifteen of these variants in 21 patients (21 %) were pathogenic mutations. We performed genetic testing in 52 relatives (18 of them (35 %) yielding positive

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

EB - Genetics and molecular biology

OECD FORD branch

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Project

Result was created during the realization of more than one project. More information in the Projects tab.

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

Folia Biologica

ISSN

0015-5500

e-ISSN

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Volume of the periodical

60

Issue of the periodical within the volume

1

Country of publishing house

CZ - CZECH REPUBLIC

Number of pages

7

Pages from-to

28-34

UT code for WoS article

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EID of the result in the Scopus database

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