Canadian National ARVC Registry

Patients will be identified from centers that form the Canadian Genetics Heart Rhythm (CGHR) Network of Inherited Heart Rhythm Clinics across Canada 25 (http://www.heartrhythmresearch.ca/).

IInclusion Requirements:

1. 2010 Revised Task Force Criteria positive patients (please refer to Appendix 3.0)
2. 2010 Revised Task Force Criteria borderline patients
3. Disease causing ARVC pathogenic mutation* carriers with no TFC criteria for ARVC
4. Variants of unknown significance carriers with ≥1 minor TFC criterion
5. Age ≥ 2 years
6. First-degree relatives of 2010 Revised Task Force Criteria positive or borderline patients

7. Able and willing to provide informed consent, or has a parent/guardian able and willing to provide informed consent and/or able to sign an assent form

   • A pathogenic mutation is a DNA alteration associated with ARVC/D that alters or is expected to alter the encoded protein in a significant way, is unobserved or rare in a large non-ARVC/D control population, and either alters or is predicted to alter the structure or function of the protein (by computational (in silico) predictions and/or functional validation in a biological model system) or has demonstrated linkage to the disease phenotype in a conclusive pedigree 4. Mutation carriers by definition have a single major Task Force criterion.

EXCLUSION CRITERIA:

Exclusion Requirements:

1. Known condition that mimics ARVC - sarcoidosis (biopsy proven or with lung involvement), familial dilated cardiomyopathy not compatible with an ARVC variant, hypertrophic cardiomyopathy
2. Known inherited condition that predisposes to sudden death - Long or Short QT Syndrome, Catecholaminergic Polymorphic Ventricular Tachycardia and Brugada Syndrome
3. Age < 2 years
4. Life expectancy less than 1 year
5. Unable and/or unwilling to provide informed consent