Hypertrophic Cardiomyopathy Registry, Biobank and Imaging Data Repository

The Hearts in Rhythm Organization (HiRO) is a national network of Canadian researchers/clinicians, working towards a better understanding of the rare genetic causes of sudden cardiac death (SCD). The HiRO Hypertrophic Cardiomyopathy registry, biobank and imaging data repository (HiRO-HCM) is a multicenter study that will prospectively enroll patients with HCM as well as those carrying sarcomeric gene variants predisposing to HCM. The objectives of HiRO-HCM are: 1. to better understand the natural history of the disease and identify clinical markers and biomarkers for adverse outcomes; 2. to derive and validate risk prediction models for disease expression, complications and response to therapy; 3. to better define the genetic architecture of sarcomeric and non-sarcomeric HCM.

Inclusion Criteria: Patients with (1) AND/OR (2) 1. Clinical diagnosis of HCM, defined as 1. maximal LVWT ≥15mm, or 2. maximal LVWT ≥13mm, in presence of a diagnosis of first degree relative with HCM, or 3. septal wall thickness with z-score \>2 in a child AND/OR 2. Carrier of a pathogenic or likely pathogenic genetic variant in a sarcomeric gene (ACTC1, FHOD3, MYBPC3, MYH7, MYL2, MYL3, TNNI3, TNNT2, TPM1). Variant classification should be performed by a certified diagnostic laboratory according to the American College of Medical Genetics and Genomics (ACMG) guidelines. Exclusion Criteria: 1. Clinical or molecular diagnosis of Noonan syndrome or other Rasopathies 2. Clinical or molecular diagnosis of metabolic disease associated with cardiomyopathy, such as Pompe (GAA), Fabry (GLA), Danon (LAMP2), AMP-kinase (PRKAG2), and carnitine disorders 3. Clinical diagnosis of a neuromuscular disease associated with cardiomyopathy, such as Friedrich's ataxia 4. Clinical diagnosis of cardiac amyloidosis with or without the presence of genetic variants in TTR 5. Clinical or molecular diagnosis of mitochondrial cardiomyopathy 6. Diagnosis of HCM \>65 years old AND absence of pathogenic or likely pathogenic variant in a sarcomeric gene (as defined in inclusion criterion 1B above) 7. History of myocardial infarction 8. History of moderate or severe aortic stenosis 9. History of congenital heart defects requiring percutaneous or surgical correction 10. History of severe hypertension defined as a systolic blood pressure \>180 mmHg and/or diastolic blood pressure \>110 mmHg AND absence of pathogenic or likely pathogenic variant in a sarcomeric gene (as defined in inclusion criterion 1B above) 11. Refusal to provide informed consent or to provide a biospecimen for DNA analysis 12. No possibility to upload transthoracic echocardiogram or cardiac magnetic resonance imaging for core lab interpretation