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 |
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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 |
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