PMID- 30765282
OWN - NLM
STAT- Publisher
LR  - 20190226
IS  - 1874-1754 (Electronic)
IS  - 0167-5273 (Linking)
DP  - 2019 Jan 27
TI  - Heart failure in patients with arrhythmogenic right ventricular cardiomyopathy:
      Genetic characteristics.
LID - S0167-5273(18)34685-0 [pii]
LID - 10.1016/j.ijcard.2019.01.065 [doi]
AB  - 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.
CI  - Copyright (c) 2019 Elsevier B.V. All rights reserved.
FAU - Vischer, Annina S
AU  - Vischer AS
AD  - Medical Outpatient Department, University Hospital Basel, Basel, Switzerland.
      Electronic address: annina.vischer@usb.ch.
FAU - Castelletti, Silvia
AU  - Castelletti S
AD  - Istituto Auxologico Italiano, IRCCS, Center for Cardiac Arrhythmia of Genetic
      Origin, Milan, Italy.
FAU - Syrris, Petros
AU  - Syrris P
AD  - Institute of Cardiovascular Science, University College of London, London, United
      Kingdom.
FAU - McKenna, William J
AU  - McKenna WJ
AD  - Institute of Cardiovascular Science, University College of London, London, United
      Kingdom.
FAU - Pantazis, Antonios
AU  - Pantazis A
AD  - Cardiomyopathy Service, Royal Brompton Hospital, London, United Kingdom.
LA  - eng
PT  - Journal Article
DEP - 20190127
PL  - Netherlands
TA  - Int J Cardiol
JT  - International journal of cardiology
JID - 8200291
OTO - NOTNLM
OT  - Arrhythmogenic right ventricular cardiomyopathy
OT  - Follow-up
OT  - Genotype
OT  - Heart failure
OT  - Heart transplantation
OT  - Plakophilin 2
EDAT- 2019/02/16 06:00
MHDA- 2019/02/16 06:00
CRDT- 2019/02/16 06:00
PHST- 2018/07/28 00:00 [received]
PHST- 2018/12/11 00:00 [revised]
PHST- 2019/01/21 00:00 [accepted]
PHST- 2019/02/16 06:00 [pubmed]
PHST- 2019/02/16 06:00 [medline]
PHST- 2019/02/16 06:00 [entrez]
AID - S0167-5273(18)34685-0 [pii]
AID - 10.1016/j.ijcard.2019.01.065 [doi]
PST - aheadofprint
SO  - Int J Cardiol. 2019 Jan 27. pii: S0167-5273(18)34685-0. doi:
      10.1016/j.ijcard.2019.01.065.