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Heart failure in patients with arrhythmogenic right ventricular cardiomyopathy: Genetic characteristics.
- Source :
-
International journal of cardiology [Int J Cardiol] 2019 Jul 01; Vol. 286, pp. 99-103. Date of Electronic Publication: 2019 Jan 27. - Publication Year :
- 2019
-
Abstract
- 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.<br />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.<br />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.<br />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.<br /> (Copyright © 2019 Elsevier B.V. All rights reserved.)
- Subjects :
- Adolescent
Adult
Arrhythmogenic Right Ventricular Dysplasia complications
Arrhythmogenic Right Ventricular Dysplasia genetics
Child
DNA Mutational Analysis
Electrocardiography
Female
Follow-Up Studies
Genotype
Heart Failure diagnosis
Heart Failure genetics
Humans
Male
Middle Aged
Mutation
Plakophilins metabolism
Retrospective Studies
Young Adult
Arrhythmogenic Right Ventricular Dysplasia diagnosis
Genetic Testing methods
Heart Failure etiology
Plakophilins genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1874-1754
- Volume :
- 286
- Database :
- MEDLINE
- Journal :
- International journal of cardiology
- Publication Type :
- Academic Journal
- Accession number :
- 30765282
- Full Text :
- https://doi.org/10.1016/j.ijcard.2019.01.065