Hypertrophic Cardiomyopathy Registry, Biobank and Imaging Data Repository

Launched by MONTREAL HEART INSTITUTE · Oct 18, 2021

Keywords

ClinConnect Summary

PATIENT ENROLLMENT:

Eligible patients will be included from HiRO sites or collaborating centres. Patients will be contacted by the local investigator or a research coordinator. Willing individuals will be interviewed by the research coordinator and given information about HiRO-HCM. The consent form will be reviewed and discussed with the coordinator. The investigators will also be available for any questions that the coordinator is unable to answer. Potential participants will have sufficient time to consider participating in HiRO-HCM. Written informed consent will be obtained from eligibl...

Gender

ALL

Eligibility criteria

• 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