Heritability of aortic valve stenosis and bicuspid enrichment in families with aortic valve stenosis.
Bicuspid aortic valve
Calcific aortic valve stenosis
Genetics
Heritability
Journal
International journal of cardiology
ISSN: 1874-1754
Titre abrégé: Int J Cardiol
Pays: Netherlands
ID NLM: 8200291
Informations de publication
Date de publication:
15 07 2022
15 07 2022
Historique:
received:
19
01
2022
revised:
10
03
2022
accepted:
08
04
2022
pubmed:
16
4
2022
medline:
7
6
2022
entrez:
15
4
2022
Statut:
ppublish
Résumé
Although a familial component of calcific aortic valve stenosis (CAVS) has been described, its heritability remains unknown. Hence, we aim to assess the heritability of CAVS and the prevalence of bicuspid aortic valve among CAVS families. Probands were recruited following aortic valve replacement (AVR) for severe CAVS on either tricuspid (TAV) or bicuspid aortic valve (BAV). After screening, relatives underwent a Doppler-echocardiography to assess the aortic valve morphology as well as the presence and severity of CAVS. Families were classified in two types according to proband's aortic valve phenotype: TAV or BAV families. Control families were recruited and screened for the presence of BAV. Among the 2371 relatives from 138 CAVS families (pedigree cohort), heritability of CAVS was significant (h Our study confirms the heritability of CAVS in both TAV and BAV families, suggesting a genetic background of this frequent valvular disease. In addition, BAV enrichment in TAV families suggests an interplay between tricuspid CAVS and BAV. Overall results support the need to improve phenotyping (i.e. BAV, TAV, risk factors) in CAVS families in order to enhance the identification of rare and causal genetic variants of CAVS. NCT02890407.
Sections du résumé
BACKGROUND
Although a familial component of calcific aortic valve stenosis (CAVS) has been described, its heritability remains unknown. Hence, we aim to assess the heritability of CAVS and the prevalence of bicuspid aortic valve among CAVS families.
METHODS
Probands were recruited following aortic valve replacement (AVR) for severe CAVS on either tricuspid (TAV) or bicuspid aortic valve (BAV). After screening, relatives underwent a Doppler-echocardiography to assess the aortic valve morphology as well as the presence and severity of CAVS. Families were classified in two types according to proband's aortic valve phenotype: TAV or BAV families. Control families were recruited and screened for the presence of BAV.
RESULTS
Among the 2371 relatives from 138 CAVS families (pedigree cohort), heritability of CAVS was significant (h
CONCLUSIONS
Our study confirms the heritability of CAVS in both TAV and BAV families, suggesting a genetic background of this frequent valvular disease. In addition, BAV enrichment in TAV families suggests an interplay between tricuspid CAVS and BAV. Overall results support the need to improve phenotyping (i.e. BAV, TAV, risk factors) in CAVS families in order to enhance the identification of rare and causal genetic variants of CAVS.
CLINICAL TRIALS IDENTIFIER
NCT02890407.
Identifiants
pubmed: 35427703
pii: S0167-5273(22)00501-0
doi: 10.1016/j.ijcard.2022.04.022
pii:
doi:
Banques de données
ClinicalTrials.gov
['NCT02890407']
Types de publication
Clinical Study
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
91-98Informations de copyright
Copyright © 2022 The Authors. Published by Elsevier B.V. All rights reserved.