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@article{1609527,
author = {Chaloupka, Anna and Piherova, Lenka and Grochova, Ilga and Binova, Jana and Krejčí, Jan and Špinarová, Lenka and Stranecky, Viktor and Kmoch, Stanislav and Kubanek, Milos},
article_location = {Olomouc},
article_number = {4},
doi = {http://dx.doi.org/10.5507/bp.2018.054},
keywords = {dilated cardiomyopathy; familial cardiomyopathy; next generation sequencing; genetic architecture; cardiac remodelling},
language = {eng},
issn = {1213-8118},
journal = {Biomedical Papers, Olomouc: Palacky University},
title = {Genetic architecture of recent-onset dilated cardiomyopathy in Moravian region assessed by whole-exome sequencing and its clinical correlates},
url = {http://dx.doi.org/10.5507/bp.2018.054},
volume = {163},
year = {2019}
}
TY - JOUR
ID - 1609527
AU - Chaloupka, Anna - Piherova, Lenka - Grochova, Ilga - Binova, Jana - Krejčí, Jan - Špinarová, Lenka - Stranecky, Viktor - Kmoch, Stanislav - Kubanek, Milos
PY - 2019
TI - Genetic architecture of recent-onset dilated cardiomyopathy in Moravian region assessed by whole-exome sequencing and its clinical correlates
JF - Biomedical Papers, Olomouc: Palacky University
VL - 163
IS - 4
SP - 309-317
EP - 309-317
PB - Palacky University
SN - 12138118
KW - dilated cardiomyopathy
KW - familial cardiomyopathy
KW - next generation sequencing
KW - genetic architecture
KW - cardiac remodelling
UR - http://dx.doi.org/10.5507/bp.2018.054
L2 - http://dx.doi.org/10.5507/bp.2018.054
N2 - 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 > 10% accompanied by a relative decrease of left ventricular end-diastolic diameter > 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.
ER -
CHALOUPKA, Anna, Lenka PIHEROVA, Ilga GROCHOVA, Jana BINOVA, Jan KREJČÍ, Lenka ŠPINAROVÁ, Viktor STRANECKY, Stanislav KMOCH a Milos KUBANEK. Genetic architecture of recent-onset dilated cardiomyopathy in Moravian region assessed by whole-exome sequencing and its clinical correlates. \textit{Biomedical Papers, Olomouc: Palacky University}. Olomouc: Palacky University, 2019, roč.~163, č.~4, s.~309-317. ISSN~1213-8118. Dostupné z: https://dx.doi.org/10.5507/bp.2018.054.
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