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

Kód výsledku v 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>

Nalezeny alternativní kódy

RIV/00216208:11130/14:10293403

Výsledek na webu

<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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Jazyk výsledku

angličtina

Název v původním jazyce

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

Popis výsledku v původním jazyce

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

Název v anglickém jazyce

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

Popis výsledku anglicky

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

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

FA - Kardiovaskulární nemoci včetně kardiochirurgie

OECD FORD obor

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Projekt

<a href="/cs/project/NT11401" target="_blank" >NT11401: Význam spánkové apnoe v patofyziologii hypertrofické kardiomyopatie</a><br>

Návaznosti

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

Rok uplatnění

2014

Kód důvěrnosti údajů

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

Název periodika

Experimental and Clinical Cardiology

ISSN

1205-6626

e-ISSN

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Svazek periodika

neuveden

Číslo periodika v rámci svazku

17 February

Stát vydavatele periodika

CA - Kanada

Počet stran výsledku

5

Strana od-do

1-5

Kód UT WoS článku

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EID výsledku v databázi Scopus

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