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Int J Cardiol. 2019 Jan 27. pii: S0167-5273(18)34685-0. doi: 10.1016/j.ijcard.2019.01.065. [Epub ahead of print]

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

Author information

1
Medical Outpatient Department, University Hospital Basel, Basel, Switzerland. Electronic address: annina.vischer@usb.ch.
2
Istituto Auxologico Italiano, IRCCS, Center for Cardiac Arrhythmia of Genetic Origin, Milan, Italy.
3
Institute of Cardiovascular Science, University College of London, London, United Kingdom.
4
Cardiomyopathy Service, Royal Brompton Hospital, London, United Kingdom.

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.

KEYWORDS:

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

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