Send to

Choose Destination
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

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



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.


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.


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.


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.


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

Supplemental Content

Full text links

Icon for Elsevier Science
Loading ...
Support Center