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.
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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 |
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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 > School of Life and Medical 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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