Hypertrophic Cardiomyopathy Registry, Biobank and Imaging Data Repository (HiRO-HCM)
HiRO HCM
Hypertrophic Cardiomyopathy Registry, Biobank and Imaging Data Repository
Lead PI & Sponsor
Dr. Ratika Parkash, Nova Scotia
Local PI
Dr. Habib Khan
Research Staff
Megan Smith
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 in HCM.
Target Number of Patients
300
Currently Enrolled
80
Primary Outcomes
- To better understand the natural history of the disease and identify clinical markers and biomarkers for adverse outcomes.
- To derive and validate risk prediction models for disease expression, complications and response to therapy.
- 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
A) maximal LVWT ≥15mm, or
B) maximal LVWT ≥13mm, in presence of a diagnosis of first degree relative with HCM, or
C) maximal LVWT with z-score >2 in patients younger than 18 years old
2. Carrier of a pathogenic or likely pathogenic genetic variant in a sarcomeric gene (ACTC1, FHOD3, MYBPC3, MYH7, MYL2, MYL3, TNNI3, TNNT2, TPM1). - Patients must also be at least 2 years of age and 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.
Exclusion Criteria
- Clinical or molecular diagnosis of Noonan syndrome or other Rasopathies
- Clinical or molecular diagnosis of metabolic disease associated with cardiomyopathy, such as Pompe (GAA), Fabry (GLA), Danon (LAMP2), AMP-kinase (PRKAG2), and carnitine disorders
- Clinical or genetic diagnosis of neuromuscular disease associated with cardiomyopathy
- Clinical diagnosis of cardiac amyloidosis with or without the presence of genetic variants in TTR
- Clinical or molecular diagnosis of mitochondrial cardiomyopathy
- Diagnosis of HCM >70 years old in the absence of a pathogenic or likely pathogenic variant in a sarcomeric gene (as defined in inclusion criterion 2 above), and in the absence of significant LV obstruction at rest (≥30 mmHg)
- History of myocardial infarction requiring coronary revascularization
- History of moderate or severe aortic stenosis
- History of congenital heart defects requiring percutaneous or surgical correction
- History of severe hypertension defined as a systolic blood pressure >180 mmHg and/or diastolic blood pressure >110 mmHg in repeated measurements AND absence of pathogenic or likely pathogenic variant in a sarcomeric gene (as defined in inclusion criterion 2 above)
- Refusal to provide informed consent or to provide a biospecimen for DNA analysis
- Inability to upload any cardiac imaging (transthoracic echocardiogram or cardiac magnetic resonance) for core lab interpretation
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.