The Canadian Arrhythmogenic Right Ventricular Cardiomyopathy Registry: Rationale, Design, and Preliminary Recruitment

Autor: Jason D. Roberts, Paul Angaran, Zachary Laksman, Santabhanu Chakrabarti, Mario Talajic, Jeff S. Healey, Brenda Gerull, Shubhayan Sanatani, Andrew D. Krahn, Colette M. Seifer, Martin S. Green, Robert J. Hamilton, Martin J. Gardner, Sandra L Carroll, Laura Arbour
Rok vydání: 2016
Předmět:
0301 basic medicine
Proband
Adult
Male
medicine.medical_specialty
Canada
Heart Ventricles
Population
030204 cardiovascular system & hematology
Sudden death
Risk Assessment
Right ventricular cardiomyopathy
03 medical and health sciences
0302 clinical medicine
Internal medicine
medicine
Humans
Genetic Testing
Registries
Family history
education
Intersectoral Collaboration
Arrhythmogenic Right Ventricular Dysplasia
Genetic testing
Desmocollins
Patient Care Team
education.field_of_study
medicine.diagnostic_test
business.industry
Membrane Proteins
Middle Aged
Penetrance
Patient Care Management
030104 developmental biology
Death
Sudden
Cardiac
Cohort
Heart Function Tests
Physical therapy
Tachycardia
Ventricular
Female
Interdisciplinary Communication
Cardiology and Cardiovascular Medicine
business
Zdroj: The Canadian journal of cardiology. 32(12)
ISSN: 1916-7075
Popis: Background 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. Methods 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. Results 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. Conclusions The Canadian ARVC Registry will create a population-based cohort of patients and their families to inform clinical decisions regarding patients with ARVC.
Databáze: OpenAIRE
Externí odkaz: