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Heart failure in patients with arrhythmogenic right ventricular cardiomyopathy: Genetic characteristics

Vischer, AS; Castelletti, S; Syrris, P; McKenna, WJ; Pantazis, A; (2019) Heart failure in patients with arrhythmogenic right ventricular cardiomyopathy: Genetic characteristics. International Journal of Cardiology , 286 pp. 99-103. 10.1016/j.ijcard.2019.01.065. Green open access

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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. 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.

Type: Article
Title: Heart failure in patients with arrhythmogenic right ventricular cardiomyopathy: Genetic characteristics
Location: Netherlands
Open access status: An open access version is available from UCL Discovery
DOI: 10.1016/j.ijcard.2019.01.065
Publisher version: https://doi.org/10.1016/j.ijcard.2019.01.065
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: Arrhythmogenic right ventricular cardiomyopathy, Follow-up, Genotype, Heart failure, Heart transplantation, Plakophilin 2
UCL classification: UCL
UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Cardiovascular Science
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Cardiovascular Science > Clinical Science
URI: https://discovery.ucl.ac.uk/id/eprint/10070199
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