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

Annina S. Vischer, Silvia Castelletti, Petros Syrris, William J. McKenna, Antonios Pantazis

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)99-103
Number of pages5
JournalInternational Journal of Cardiology
Volume286
DOIs
Publication statusPublished - Jul 1 2019

Keywords

  • Arrhythmogenic right ventricular cardiomyopathy
  • Follow-up
  • Genotype
  • Heart failure
  • Heart transplantation
  • Plakophilin 2

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

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