Heart failure in patients with arrhythmogenic right ventricular cardiomyopathy: Genetic characteristics.
Adolescent
Adult
Arrhythmogenic Right Ventricular Dysplasia
/ complications
Child
DNA Mutational Analysis
Electrocardiography
Female
Follow-Up Studies
Genetic Testing
/ methods
Genotype
Heart Failure
/ diagnosis
Humans
Male
Middle Aged
Mutation
Plakophilins
/ genetics
Retrospective Studies
Young Adult
Arrhythmogenic right ventricular cardiomyopathy
Follow-up
Genotype
Heart failure
Heart transplantation
Plakophilin 2
Journal
International journal of cardiology
ISSN: 1874-1754
Titre abrégé: Int J Cardiol
Pays: Netherlands
ID NLM: 8200291
Informations de publication
Date de publication:
01 07 2019
01 07 2019
Historique:
received:
28
07
2018
revised:
11
12
2018
accepted:
21
01
2019
pubmed:
16
2
2019
medline:
13
2
2020
entrez:
16
2
2019
Statut:
ppublish
Résumé
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetically determined heart muscle disorder. The incidence of heart failure (HF) in ARVC has been reported at 5-13%. We aimed to define the genotype and disease progression of ARVC patients with HF. Patients with a definite diagnosis of ARVC who underwent genetic testing were consecutively recruited. Detailed clinical data was collected at baseline and during follow up. Clinical endpoint was a composite of heart transplantation and death due to HF. 135 patients were included. 8 (5.9%) patients reached the endpoint. Patients reaching the endpoint were significantly more likely to carry a Plakophilin 2 mutation than patients without HF, and 50% had multiple variants, however only one patient had 2 pathogenic mutations. HF is a rare but significant outcome of patients with a definite diagnosis of ARVC. Patients with HF predominantly carried Plakophilin 2 mutations and often had multiple variants. RV dysfunction appears to be a determinant of heart transplantation and death.
Sections du résumé
BACKGROUND
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetically determined heart muscle disorder. The incidence of heart failure (HF) in ARVC has been reported at 5-13%. We aimed to define the genotype and disease progression of ARVC patients with HF.
METHODS
Patients with a definite diagnosis of ARVC who underwent genetic testing were consecutively recruited. Detailed clinical data was collected at baseline and during follow up. Clinical endpoint was a composite of heart transplantation and death due to HF.
RESULTS
135 patients were included. 8 (5.9%) patients reached the endpoint. Patients reaching the endpoint were significantly more likely to carry a Plakophilin 2 mutation than patients without HF, and 50% had multiple variants, however only one patient had 2 pathogenic mutations.
CONCLUSIONS
HF is a rare but significant outcome of patients with a definite diagnosis of ARVC. Patients with HF predominantly carried Plakophilin 2 mutations and often had multiple variants. RV dysfunction appears to be a determinant of heart transplantation and death.
Identifiants
pubmed: 30765282
pii: S0167-5273(18)34685-0
doi: 10.1016/j.ijcard.2019.01.065
pii:
doi:
Substances chimiques
Plakophilins
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
99-103Commentaires et corrections
Type : CommentIn
Informations de copyright
Copyright © 2019 Elsevier B.V. All rights reserved.