Genotype is associated with left ventricular reverse remodelling and early events in recent-onset dilated cardiomyopathy.
Genetics
Left ventricular reverse remodelling
Prognosis
Recent‐onset dilated cardiomyopathy
Whole‐exome sequencing
Journal
ESC heart failure
ISSN: 2055-5822
Titre abrégé: ESC Heart Fail
Pays: England
ID NLM: 101669191
Informations de publication
Date de publication:
11 Aug 2024
11 Aug 2024
Historique:
revised:
05
06
2024
received:
23
10
2023
accepted:
15
07
2024
medline:
12
8
2024
pubmed:
12
8
2024
entrez:
12
8
2024
Statut:
aheadofprint
Résumé
Recent-onset dilated cardiomyopathy (RODCM) is characterized by heterogeneous aetiology and diverse clinical outcomes, with scarce data on genotype-phenotype correlates. Our aim was to correlate individual RODCM genotypes with left ventricular reverse remodelling (LVRR) and clinical outcomes. In this prospective study, a total of 386 Czech RODCM patients with symptom duration ≤6 months underwent genetic counselling and whole-exome sequencing (WES). The presence of pathogenic (class 5) or likely pathogenic (class 4) variants in a set of 72 cardiomyopathy-related genes was correlated with the occurrence of all-cause death, heart transplantation, or implantation of a ventricular assist device (primary outcome) and/or ventricular arrhythmia event (secondary outcome). LVRR was defined as an improvement of left ventricular ejection fraction to >50% or ≥10% absolute increase, with a left ventricular end-diastolic diameter ≤33 mm/m RODCM 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.
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Ministry of Health of the Czech Republic
ID : NV19-08-00122
Organisme : Ministry of Health of the Czech Republic
ID : DRO-IKEM-IN-00023001
Organisme : Ministry of Health of the Czech Republic
ID : DRO-FNOL-IN-00098892
Organisme : Charles University Institutional Programmes
ID : UNCE/MED/007
Organisme : Charles University Institutional Programmes
ID : PROGRES-Q26/LF1
Organisme : Charles University Institutional Programmes
ID : SVV2016/260148
Organisme : Czech National Center for Medical Genomics
ID : LM2018132
Organisme : European Union, Next Generation EU, National Institute for Research of Metabolic and Cardiovascular Diseases (Program Exceles)
ID : LX22NPO5104
Informations de copyright
© 2024 The Author(s). ESC Heart Failure published by John Wiley & Sons Ltd on behalf of European Society of Cardiology.
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