Data Entry Maintenance

Metadata Commons Identifier

HMC000066

Project Title

British Columbia Retrospective Cohort of Hypertrophic Cardiomyopathy Patients

Project Description

A multi-omics approach to identify prognostic biomarkers for fibrosis in hereditary hypertrophic cardiomyopathy Hypertrophic cardiomyopathy (HCM) is a common form of heart disease, affecting 1 in 200 people. In HCM, the heart muscle thickens, and over time this can lead to other health problems, from shortness of breath to sudden death. There are limited tools to help identify people who are at risk of poor outcomes related to their disease, or to monitor or predict the rate of disease progression. Imaging, using MRI, is currently the best tool to diagnose HCM and to help guide decision-making by the clinical care team. Frequent follow-up MRIs would be helpful, but are neither feasible nor would give a complete picture of disease progression. We plan to develop a blood test that can identify people at risk of heart failure, and to monitor HCM disease progression. To develop this blood test, we will first understand differences between HCM hearts and normal hearts using many tools, from pictures of the entire heart muscle all the way down to single heart muscle cells. We will analyze all available imaging and clinical data from HCM patients. We will also study heart muscle tissue that has been removed from patients who underwent surgery to relieve obstruction caused by their thickening heart muscle. We will study this heart muscle using a new single-cell technology that we helped to develop. We will also analyze the blood of these patients, to find protein markers related to HCM disease progression. Our ultimate goal is to give patients and their caregivers an effective test which provides unique insights into their heart disease, and has the potential to change management. This will become increasingly important in the coming years as new therapies are tested for HCM that hold the hope and promise of halting or reversing disease progression in HCM. Genome BC project: DIA008

Project Funder(s)

Genome British Columbia

Project Institution(s)

University of British Columbia, Centre for Heart Lung Innovation

Project Investigator(s)

Zachary Laksman, Jonathon Leipsic

Data Access Request URL*

Keywords

cardiology; single-nucleus RNA-seq; cardiac imaging

Publication Link

https://pubmed.ncbi.nlm.nih.gov/38398708/

Study Completed

Cohort Name

British Columbia Retrospective Cohort of Hypertrophic Cardiomyopathy Patients

Cohort Size

1350

Disease/Condition Studied

hypertrophic cardiomyopathy

Enrollment Time Window

2015-2023

Biobanking Consent Available

Medical History Available

Ethnicity Availability

Time Course

Patient Phenotypes

heart muscle thickening; tiredness

Patient Outcomes

potential heart failure or sudden death; heart transplant; reductive septal myectomy

Clinical Data Types Available

many: clinical genetic testing, ECG, Holter, CMR...

Time Course Data Points

follow-up data usually every second year after diagnosis

Enrollment City

Groups

Project

Cohort

Enrollment City

Groups

Samples and Omics