Genotype is associated with left ventricular reverse
remodelling and early events in recent-onset dilated
cardiomyopathy

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Genotype is associated with left ventricular reverse remodelling and early events in recent-onset ...

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J 2024

Genotype is associated with left ventricular reverse remodelling and early events in recent-onset dilated cardiomyopathy

KUBANEK, Milos; Jana BINOVA; Lenka PIHEROVA; Alice KREBSOVA; Martin KOTRC et. al.

Basic information

Original name

Genotype is associated with left ventricular reverse remodelling and early events in recent-onset dilated cardiomyopathy

Authors

Edition

ESC Heart Failure, SAN FRANCISCO, Sons Ltd, 2024, 2055-5822

Other information

Language

English

Type of outcome

Article in a journal

Country of publisher

United States of America

Confidentiality degree

is not subject to a state or trade secret

References:

URL

Organization

Lékařská fakulta – Repository – Repository

DOI

http://dx.doi.org/10.1002/ehf2.15009

UT WoS

001288249100001

EID Scopus

2-s2.0-85200972427

Keywords in English

Genetics; Left ventricular reverse remodelling; Prognosis; Recent-onset dilated cardiomyopathy; Whole-exome sequencing

Links

LM2018132, research and development project. LX22NPO5104, research and development project.

Changed: 31/1/2025 00:50, RNDr. Daniel Jakubík

Abstract

V originále

gt;= 10% relative decrease. Median follow-up was 41 months. RODCM was familial in 98 (25%) individuals. Class 4-5 variants of interest (VOIs) were identified in 125 (32%) cases, with 69 (18%) having a single titin-truncating variant (TTNtv) and 56 (14%) having non-titin (non-TTN) VOIs. The presence of class 4-5 non-TTN VOIs, but not of TTNtv, heralded a lower probability of 12-month LVRR and proved to be an independent baseline predictor both of the primary and the secondary outcome. The negative result of genetic testing was a strong protective baseline variable against occurrence of life-threatening ventricular arrhythmias. Detection of class 4-5 VOIs in genes coding nuclear envelope proteins was another independent predictor of both study outcomes at baseline and also of life-threatening ventricular arrhythmias after 12 months. Class 4-5 VOIs of genes coding cytoskeleton were associated with an increased risk of life-threatening ventricular arrhythmias after baseline assessment. A positive family history of dilated cardiomyopathy alone only related to a lower probability of LVRR at 12 months and at the final follow-up. ConclusionsRODCM patients harbouring class 4-5 non-TTN VOIs are at higher risk of progressive heart failure and life-threatening ventricular arrhythmias. Genotyping may improve their early risk stratification at baseline assessment.

Files attached

https://is.muni.cz/publication/2423718/Genotype_is_associated_with_left_ventricular_reverse_remodelling_and_early_events_in_recent-onset_dilated_cardiomyopathy.pdf

Cite

KUBANEK, Milos; Jana BINOVA; Lenka PIHEROVA; Alice KREBSOVA; Martin KOTRC; Hana HARTMANNOVA; Katerina HODANOVA; Dita MUSALKOVA; Viktor STRANECKY; Tomas PALECEK; Anna CHALOUPKA; Ilga GROCHOVA; Jan KREJČÍ; Jana PETRKOVA; Vojtech MELENOVSKY; Stanislav KMOCH and Josef KAUTZNER. Genotype is associated with left ventricular reverse remodelling and early events in recent-onset dilated cardiomyopathy. ESC Heart Failure. SAN FRANCISCO: Sons Ltd, 2024, vol. 11, No 6, p. 1-12. ISSN 2055-5822. Available from: https://dx.doi.org/10.1002/ehf2.15009.

@article{63049,
   author = {Kubanek, Milos and Binova, Jana and Piherova, Lenka and Krebsova, Alice and Kotrc, Martin and Hartmannova, Hana and Hodanova, Katerina and Musalkova, Dita and Stranecky, Viktor and Palecek, Tomas and Chaloupka, Anna and Grochova, Ilga and Krejčí, Jan and Petrkova, Jana and Melenovsky, Vojtech and Kmoch, Stanislav and Kautzner, Josef},
   article_location = {SAN FRANCISCO},
   article_number = {6},
   doi = {http://dx.doi.org/10.1002/ehf2.15009},
   keywords = {Genetics; Left ventricular reverse remodelling; Prognosis; Recent-onset dilated cardiomyopathy; Whole-exome sequencing},
   language = {eng},
   issn = {2055-5822},
   journal = {ESC Heart Failure},
   title = {Genotype is associated with left ventricular reverse remodelling and early events in recent-onset dilated cardiomyopathy},
   url = {https://onlinelibrary.wiley.com/doi/10.1002/ehf2.15009},
   volume = {11},
   year = {2024}
}

TY  - JOUR
ID  - 63049
AU  - Kubanek, Milos - Binova, Jana - Piherova, Lenka - Krebsova, Alice - Kotrc, Martin - Hartmannova, Hana - Hodanova, Katerina - Musalkova, Dita - Stranecky, Viktor - Palecek, Tomas - Chaloupka, Anna - Grochova, Ilga - Krejčí, Jan - Petrkova, Jana - Melenovsky, Vojtech - Kmoch, Stanislav - Kautzner, Josef
PY  - 2024
TI  - Genotype is associated with left ventricular reverse remodelling and early events in recent-onset dilated cardiomyopathy
JF  - ESC Heart Failure
VL  - 11
IS  - 6
SP  - 1-12
EP  - 1-12
PB  - Sons Ltd
SN  - 2055-5822
KW  - Genetics
KW  - Left ventricular reverse remodelling
KW  - Prognosis
KW  - Recent-onset dilated cardiomyopathy
KW  - Whole-exome sequencing
UR  - https://onlinelibrary.wiley.com/doi/10.1002/ehf2.15009
N2  - gt;= 10% relative decrease. Median follow-up was 41 months. RODCM was familial in 98 (25%) individuals. Class 4-5 variants of interest (VOIs) were identified in 125 (32%) cases, with 69 (18%) having a single titin-truncating variant (TTNtv) and 56 (14%) having non-titin (non-TTN) VOIs. The presence of class 4-5 non-TTN VOIs, but not of TTNtv, heralded a lower probability of 12-month LVRR and proved to be an independent baseline predictor both of the primary and the secondary outcome. The negative result of genetic testing was a strong protective baseline variable against occurrence of life-threatening ventricular arrhythmias. Detection of class 4-5 VOIs in genes coding nuclear envelope proteins was another independent predictor of both study outcomes at baseline and also of life-threatening ventricular arrhythmias after 12 months. Class 4-5 VOIs of genes coding cytoskeleton were associated with an increased risk of life-threatening ventricular arrhythmias after baseline assessment. A positive family history of dilated cardiomyopathy alone only related to a lower probability of LVRR at 12 months and at the final follow-up. ConclusionsRODCM patients harbouring class 4-5 non-TTN VOIs are at higher risk of progressive heart failure and life-threatening ventricular arrhythmias. Genotyping may improve their early risk stratification at baseline assessment.
ER  -

KUBANEK, Milos; Jana BINOVA; Lenka PIHEROVA; Alice KREBSOVA; Martin KOTRC; Hana HARTMANNOVA; Katerina HODANOVA; Dita MUSALKOVA; Viktor STRANECKY; Tomas PALECEK; Anna CHALOUPKA; Ilga GROCHOVA; Jan KREJČÍ; Jana PETRKOVA; Vojtech MELENOVSKY; Stanislav KMOCH and Josef KAUTZNER. Genotype is associated with left ventricular reverse remodelling and early events in recent-onset dilated cardiomyopathy. \textit{ESC Heart Failure}. SAN FRANCISCO: Sons Ltd, 2024, vol.~11, No~6, p.~1-12. ISSN~2055-5822. Available from: https://dx.doi.org/10.1002/ehf2.15009.