Clinical Phenotypes and Prognosis of Dilated Cardiomyopathy Caused by Truncating Variants in the

Adult Aged Aged, 80 and over Arrhythmias, Cardiac / genetics Cardiomyopathy, Dilated / diagnosis Connectin / genetics Europe Female Genetic Predisposition to Disease Genetic Variation Heart Failure / genetics Humans Longitudinal Studies Male Middle Aged New South Wales Phenotype Prognosis Risk Assessment Risk Factors Sex Factors Stroke Volume / genetics Time Factors Ventricular Dysfunction, Left / diagnosis Ventricular Function, Left / genetics Ventricular Remodeling

cardiomyopathy, dilated connectin heart failure phenotype sex

Journal

Circulation. Heart failure

ISSN: 1941-3297

Titre abrégé: Circ Heart Fail

Pays: United States

ID NLM: 101479941

Informations de publication

Date de publication:
10 2020

Historique:

pubmed: 24 9 2020

medline: 16 3 2021

entrez: 23 9 2020

Statut: ppublish

Résumé

Truncating variants in the Five hundred thirty-seven individuals (61% men; 317 probands) with TTNtv were recruited in 14 centers (372 [69%] with baseline left ventricular systolic dysfunction [LVSD]). Baseline and longitudinal clinical data were obtained. The primary end point was a composite of malignant ventricular arrhythmia and end-stage heart failure. The secondary end point was left ventricular reverse remodeling (left ventricular ejection fraction increase by ≥10% or normalization to ≥50%). Median follow-up was 49 (18-105) months. Men developed LVSD more frequently and earlier than women (45±14 versus 49±16 years, respectively; TTNtv is characterized by frequent arrhythmia, but malignant ventricular arrhythmias are most commonly associated with severe LVSD. Male sex and LVSD are independent predictors of outcomes. Mutation location does not impact clinical phenotype or outcomes.

Sections du résumé

BACKGROUND

Truncating variants in the

METHODS

Five hundred thirty-seven individuals (61% men; 317 probands) with TTNtv were recruited in 14 centers (372 [69%] with baseline left ventricular systolic dysfunction [LVSD]). Baseline and longitudinal clinical data were obtained. The primary end point was a composite of malignant ventricular arrhythmia and end-stage heart failure. The secondary end point was left ventricular reverse remodeling (left ventricular ejection fraction increase by ≥10% or normalization to ≥50%).

RESULTS

Median follow-up was 49 (18-105) months. Men developed LVSD more frequently and earlier than women (45±14 versus 49±16 years, respectively;

CONCLUSIONS

TTNtv is characterized by frequent arrhythmia, but malignant ventricular arrhythmias are most commonly associated with severe LVSD. Male sex and LVSD are independent predictors of outcomes. Mutation location does not impact clinical phenotype or outcomes.

Identifiants

DOI: 10.1161/CIRCHEARTFAILURE.119.006832 PMID: 32964742

pubmed: 32964742

doi: 10.1161/CIRCHEARTFAILURE.119.006832

doi:

Substances chimiques

Connectin 0

TTN protein, human 0

Types de publication

Journal Article Multicenter Study Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

Pagination

e006832

Subventions

Organisme : Medical Research Council

ID : MR/T005181/1

Pays : United Kingdom