title: The Canadian Arrhythmogenic Right Ventricular Cardiomyopathy Registry: Rationale, Design, and Preliminary Recruitment.
abstract: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a complex and clinically heterogeneous arrhythmic condition. Incomplete penetrance and variable expressivity are particularly evident in ARVC, making clinical decision-making challenging.
  
  
  
  Pediatric and adult cardiologists, geneticists, genetic counsellors, ethicists, nurses, and qualitative researchers are collaborating to create the Canadian ARVC registry using a web-based clinical database. Biological samples will be banked and systematic analysis will be performed to examine potentially causative mutations, variants, and biomarkers. Outcomes will include syncope, ventricular arrhythmias, defibrillator therapies, heart failure, and mortality.
  
  
  
  Preliminary recruitment has enrolled 365 participants (aged 42.7 ± 17.1 years; 50% women), including 129 probands and 236 family members. Previous cardiac arrest occurred in 28 (8%) participants, syncope occurred in 43 (12%) participants, and 46% of probands had a family history of sudden death. Overall yield of genetic testing was 36% for a disease-causing mutation and 20% for a variant of unknown significance. Target enrollment is 1000 affected patients and 500 unaffected family member controls over 7 years. The cross-sectional and longitudinal data collected in this manner will allow a robust assessment of the natural history and clinical course of genetic subtypes.
  
  
  
  The Canadian ARVC Registry will create a population-based cohort of patients and their families to inform clinical decisions regarding patients with ARVC.
authors.affiliation: Heart Rhythm Vancouver, Vancouver, British Columbia, Canada; Heart Rhythm Vancouver, Division of Cardiology, University of British Columbia, Vancouver, British Columbia, Canada. Electronic address: akrahn@mail.ubc.ca.
authors.forename: Andrew D
authors.initials: AD
authors.lastname: Krahn
authors.affiliation: Population Health Research Institute, McMaster University, Hamilton, Ontario, Canada.
authors.forename: Jeffrey S
authors.initials: JS
authors.lastname: Healey
authors.affiliation: Libin Cardiovascular Institute, University of Calgary, Calgary, Alberta, Canada.
authors.forename: Brenda
authors.initials: B
authors.lastname: Gerull
authors.affiliation: St Michael's Hospital, University of Toronto, Toronto, Ontario, Canada.
authors.forename: Paul
authors.initials: P
authors.lastname: Angaran
authors.affiliation: Heart Rhythm Vancouver, Division of Cardiology, University of British Columbia, Vancouver, British Columbia, Canada.
authors.forename: Santabhanu
authors.initials: S
authors.lastname: Chakrabarti
authors.affiliation: BC Children's Hospital, Vancouver, British Columbia, Canada.
authors.forename: Shubhayan
authors.initials: S
authors.lastname: Sanatani
authors.affiliation: Department of Medical Genetics, University of British Columbia, Victoria, British Columbia, Canada.
authors.forename: Laura
authors.initials: L
authors.lastname: Arbour
authors.affiliation: Heart Rhythm Vancouver, Division of Cardiology, University of British Columbia, Vancouver, British Columbia, Canada.
authors.forename: Zachary W M
authors.initials: ZW
authors.lastname: Laksman
authors.affiliation: Population Health Research Institute, McMaster University, Hamilton, Ontario, Canada.
authors.forename: Sandra L
authors.initials: SL
authors.lastname: Carroll
authors.affiliation: St Boniface Hospital, University of Manitoba, Winnipeg, Manitoba, Canada.
authors.forename: Colette
authors.initials: C
authors.lastname: Seifer
authors.affiliation: University of Ottawa Heart Institute, Ottawa, Ontario, Canada.
authors.forename: Martin
authors.initials: M
authors.lastname: Green
authors.affiliation: Western University, London, Ontario, Canada.
authors.forename: Jason D
authors.initials: JD
authors.lastname: Roberts
authors.affiliation: Montréal Heart Institute, Montréal, Québec, Canada.
authors.forename: Mario
authors.initials: M
authors.lastname: Talajic
authors.affiliation: Hospital for Sick Children, Toronto, Ontario, Canada.
authors.forename: Robert
authors.initials: R
authors.lastname: Hamilton
authors.affiliation: QEII Health Sciences Center, Halifax, Nova Scotia, Canada.
authors.forename: Martin
authors.initials: M
authors.lastname: Gardner
mesh_terms: D000328:Adult; D019571:Arrhythmogenic Right Ventricular Dysplasia / Q000150:complications / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D002170:Canada / Q000453:epidemiology; D016757:Death, Sudden, Cardiac / Q000453:epidemiology / Q000209:etiology / Q000517:prevention & control; D051187:Desmocollins / Q000235:genetics; D005260:Female; D005820:Genetic Testing / Q000706:statistics & numerical data; D006334:Heart Function Tests / Q000379:methods / Q000706:statistics & numerical data; D006352:Heart Ventricles / Q000000981:diagnostic imaging; D006801:Humans; D033183:Interdisciplinary Communication; D000070516:Intersectoral Collaboration; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D008875:Middle Aged; D010346:Patient Care Management / Q000379:methods / Q000458:organization & administration; D010348:Patient Care Team / Q000458:organization & administration*; D012042:Registries / Q000706:statistics & numerical data; D018570:Risk Assessment / Q000379:methods; D017180:Tachycardia, Ventricular / Q000175:diagnosis / Q000209:etiology / Q000401:mortality
chemical_list: C081561:DSC2 protein, human; D051187:Desmocollins; D008565:Membrane Proteins; C528696:TMEM43 protein, human