Genetic architecture of recent-onset dilated cardiomyopathy in Moravian region assessed by whole-exome sequencing and its clinical correlates

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00023001%3A_____%2F19%3A00078733" target="_blank" >RIV/00023001:_____/19:00078733 - isvavai.cz</a>

Alternative codes found

RIV/00216224:14110/19:00112737 RIV/00159816:_____/19:00072456 RIV/00216208:11110/19:10403379

Result on the web

<a href="https://biomed.papers.upol.cz/artkey/bio-201904-0004_genetic-architecture-of-recent-onset-dilated-cardiomyopathy-in-moravian-region-assessed-by-whole-exome-sequenci.php" target="_blank" >https://biomed.papers.upol.cz/artkey/bio-201904-0004_genetic-architecture-of-recent-onset-dilated-cardiomyopathy-in-moravian-region-assessed-by-whole-exome-sequenci.php</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.5507/bp.2018.054" target="_blank" >10.5507/bp.2018.054</a>

Result language

angličtina

Original language name

Genetic architecture of recent-onset dilated cardiomyopathy in Moravian region assessed by whole-exome sequencing and its clinical correlates

Original language description

Aims. Recent-onset dilated cardiomyopathy (RODCM) is a disease of heterogeneous aetiology and clinical outcome. In this pilot study, we aimed to assess its genetic architecture and correlate genotype with left ventricular reverse remodelling (LVRR). Patients and Methods. In this multi-centre prospective observational study, we enrolled 83 Moravian patients with RODCM and a history of symptoms of less than 6 months, for whole-exome sequencing (WES). All patients underwent 12-month clinical and echocardiographic follow-up. LVRR was defined as an absolute increase in left ventricular ejection fraction &gt; 10% accompanied by a relative decrease of left ventricular end-diastolic diameter &gt; 10% at 12 months. Results. WES identified at least one disease-related variant in 45 patients (54%). LVRR occurred in 28 patients (34%), most often in carriers of isolated titin truncated variants, followed by individuals with a negative, or inconclusive WES and carriers of other disease-related variants (56% vs. 42% vs. 19%, P=0.041). Conclusion. A substantial proportion of RODCM cases have a monogenic or oligogenic genetic background. Carriers of non-titin disease-related variants are less likely to reach LVRR at 12-months than other individuals. Genetic testing could contribute to better prognosis prediction and individualized treatment of RODCM. © 2019 The Authors.

Czech name

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Czech description

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Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

—

OECD FORD branch

30201 - Cardiac and Cardiovascular systems

Project

<a href="/en/project/NV15-27682A" target="_blank" >NV15-27682A: Next generation sequencing for early diagnosis and individualized treatment of dilated cardiomyopathy and related forms of cardiomyopathy</a><br>

Continuities

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

Publication year

2019

Confidentiality

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

Name of the periodical

Biomedical papers

ISSN

1213-8118

e-ISSN

—

Volume of the periodical

163

Issue of the periodical within the volume

4

Country of publishing house

CZ - CZECH REPUBLIC

Number of pages

9

Pages from-to

309-317

UT code for WoS article

000506054400004

EID of the result in the Scopus database

2-s2.0-85076622290