Objective
The primary objective of HiRO-HCM is to establish a registry, biobank, and imaging repository for patients with HCM, as well as unaffected carriers of rare genetic variants in sarcomeric genes associated with HCM, to address current knowledge gaps — better understanding the natural history of the disease, deriving and validating risk-prediction models, and defining the genetic architecture of HCM.
Background
The Hearts in Rhythm Organization (HiRO) is a national network of Canadian researchers and clinicians working towards a better understanding of the rare genetic causes of sudden cardiac death. The HiRO Hypertrophic Cardiomyopathy registry, biobank and imaging data repository (HiRO-HCM) is a multicentre study that will prospectively enroll patients with HCM as well as those carrying sarcomeric gene variants predisposing to HCM.
Study Outcomes
Primary
- Better understand the natural history of the disease and identify clinical markers and biomarkers for adverse outcomes
- Derive and validate risk-prediction models for disease expression, complications, and response to therapy
- Better define the genetic architecture of sarcomeric and non-sarcomeric HCM
Secondary
Eligibility Criteria
The criteria below are a summary. Your study doctor will confirm whether this study is right for you.
Inclusion Criteria
- Clinical diagnosis of HCM (maximal LVWT ≥ 15 mm; or ≥ 13 mm with a first-degree relative with HCM; or LVWT z-score > 2 in patients younger than 18) AND/OR a pathogenic/likely pathogenic variant in a sarcomeric gene (ACTC1, FHOD3, MYBPC3, MYH7, MYL2, MYL3, TNNI3, TNNT2, TPM1)
- At least 2 years of age and able to provide informed consent (or parent/guardian able to provide consent and/or sign an assent form)
Exclusion Criteria
- Clinical or molecular diagnosis of Noonan syndrome or other RASopathies
- Metabolic disease associated with cardiomyopathy (e.g. Pompe, Fabry, Danon, AMP-kinase, carnitine disorders)
- Neuromuscular disease associated with cardiomyopathy
- Cardiac amyloidosis with or without TTR variants
- Mitochondrial cardiomyopathy
- HCM diagnosed > 70 years old without a sarcomeric variant and without significant resting LV obstruction (≥ 30 mmHg)
- Myocardial infarction requiring coronary revascularization, or moderate/severe aortic stenosis
- Congenital heart defects requiring correction, or severe uncontrolled hypertension without a sarcomeric variant
- Refusal to provide informed consent or a biospecimen, or inability to upload cardiac imaging for core lab interpretation
About taking part
If you are considering joining this study, please review the Letter of Information below. It explains the study in detail, including what participation involves, the potential risks and benefits, and your rights as a participant.
HiRO-HCM Letter of Information