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

Kód výsledku v 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>

Nalezeny alternativní kódy

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

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

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

Popis výsledku v původním jazyce

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.

Název v anglickém jazyce

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

Popis výsledku anglicky

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.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30201 - Cardiac and Cardiovascular systems

Projekt

<a href="/cs/project/NV15-27682A" target="_blank" >NV15-27682A: Využití metod sekvenování nové generace pro časnou diagnostiku a individualizovanou léčbu dilatační kardiomyopatie a příbuzných forem kardiomyopatií</a><br>

Návaznosti

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

Rok uplatnění

2019

Kód důvěrnosti údajů

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

Název periodika

Biomedical papers

ISSN

1213-8118

e-ISSN

—

Svazek periodika

163

Číslo periodika v rámci svazku

4

Stát vydavatele periodika

CZ - Česká republika

Počet stran výsledku

9

Strana od-do

309-317

Kód UT WoS článku

000506054400004

EID výsledku v databázi Scopus

2-s2.0-85076622290