Molecular diagnosis at the Cardiovascular Genetics Center of the Montreal Heart Institute: a 14‑year retrospective study

Status Ongoing
Start date 2023
Location Quebec
Researcher Tadros, Rafik
Associated institution Institut de cardiologie de Montréal and Université de Montréal
Summary

The Cardiovascular Genetics Center at the Montreal Heart Institute is conducting a large retrospective study covering 14 years of molecular diagnoses in patients with hereditary cardiomyopathies or arrhythmias. The project aims to better understand the clinical value of genetic testing over time within the French‑Canadian population, a group that remains underrepresented in international genetic databases.
More than 2,000 patient files and 135 recurrent genetic variants have been reviewed. By using CARTaGENE’s population data, researchers can more accurately estimate the true frequency of these variants in Quebec, which is essential for interpreting their clinical relevance.
This approach also makes it possible to assess the risk associated with specific variants by comparing the patient cohort with CARTaGENE participants. Ultimately, this work will help improve diagnostic accuracy, the interpretation of rare variants, and the care of individuals affected by hereditary cardiovascular diseases in Quebec.

Themes
  • Chronic diseases
  • Genetics and genomics
Data types
  • Genetic data
  • Physical and cognitive measures
  • Questionnaire data

Related resources