{"id":1683,"date":"2026-07-27T14:37:45","date_gmt":"2026-07-27T18:37:45","guid":{"rendered":"https:\/\/cartagene.qc.ca\/projet\/molecular-diagnosis-at-the-cardiovascular-genetics-center-of-the-montreal-heart-institute-a-14-year-retrospective-study\/"},"modified":"2026-07-31T14:56:01","modified_gmt":"2026-07-31T18:56:01","slug":"molecular-diagnosis-at-the-cardiovascular-genetics-center-of-the-montreal-heart-institute-a-14-year-retrospective-study","status":"publish","type":"projet","link":"https:\/\/cartagene.qc.ca\/en\/projet\/molecular-diagnosis-at-the-cardiovascular-genetics-center-of-the-montreal-heart-institute-a-14-year-retrospective-study\/","title":{"rendered":"Molecular diagnosis at the Cardiovascular Genetics Center of the Montreal Heart Institute: a 14\u2011year retrospective study"},"content":{"rendered":"<div class=\"htb htb-hero-simple htb-hero-simple--js   default-margin-top  default-margin-bottom  bg-color color-none  htb-uid-1 \" >\n\t<div class=\"container-fluid\">\n\t\t<div class=\"row\">\n\t\t\t<div class=\"col-12 \">\n\t\t\t\t<div class=\"content-box \">\n\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"henri-breadcrumb-box\">\n\t\t\t<nav aria-label=\"breadcrumb\">\n\t\t\t\t<ol class=\"breadcrumb\" itemscope itemtype=\"http:\/\/schema.org\/BreadcrumbList\">\n\t\t\t\t\t\t\t\t\t\t<li class=\"breadcrumb-item \" itemprop=\"itemListElement\" itemtype=\"http:\/\/schema.org\/ListItem\">\n\t\t\t\t\t\t<a href=\"https:\/\/cartagene.qc.ca\/en\/\">Home<\/a><\/li>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<li class=\"breadcrumb-item\" itemprop=\"itemListElement\" itemtype=\"http:\/\/schema.org\/ListItem\">\n\t\t\t\t\t\t\t\t<a href=\"\/en\/projects\">Projects<\/a><\/li>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<li class=\"breadcrumb-item active\" aria-current=\"page\" itemprop=\"itemListElement\" itemtype=\"http:\/\/schema.org\/ListItem\">Molecular diagnosis at the Cardiovascular Genetics Center of the Montreal Heart Institute: a 14\u2011year retrospective study<\/li>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/ol>\n\t\t\t<\/nav>\n\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t<h1 >Molecular diagnosis at the Cardiovascular Genetics Center of the Montreal Heart Institute: a 14\u2011year retrospective study<\/h1>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t<\/div>\n<\/div>\n\n\n<div class=\"htb htb-fiche_technique   default-margin-top  default-margin-bottom  bg-color color-none  htb-uid-2 \" >\n\n\t\n\t\t\t<div class=\"container-xxl\">\n\t\t\t<div class=\"row\">\n\t\t\t\t<div class=\"col-12\">\n\n\t\t\t\t\t\t\t\t\t\t\t<div class=\"ft-grille\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"ft-grille__rangee\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"ft-carte bg-color color-bleu-blanc\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"ft-carte__label\">Status<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"ft-carte__valeur\">Ongoing<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"ft-carte bg-color color-bleu-blanc\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"ft-carte__label\">Start date<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"ft-carte__valeur\">2023<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"ft-carte bg-color color-bleu-blanc\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"ft-carte__label\">Location<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"ft-carte__valeur\">Quebec<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"ft-grille__rangee\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"ft-carte bg-color color-bleu-blanc\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"ft-carte__label\">Researcher<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"ft-carte__valeur\">Tadros, Rafik<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"ft-carte bg-color color-bleu-blanc\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"ft-carte__label\">Associated institution<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"ft-carte__valeur\">Institut de cardiologie de Montr\u00e9al and Universit\u00e9 de Montr\u00e9al<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\n\t\t\t\t\t\t\t\t\t\t\t<div class=\"ft-contenu\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"ft-contenu__row row\">\n\t\t\t\t\t\t\t\t\t<div class=\"ft-contenu__label-col col-12 col-lg-4\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"surtitre\">Summary<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t<div class=\"ft-contenu__body-col col-12 col-lg-8\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"ft-contenu__texte\"><p>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\u2011Canadian population, a group that remains underrepresented in international genetic databases.<br \/>\nMore than 2,000 patient files and 135 recurrent genetic variants have been reviewed. By using CARTaGENE\u2019s population data, researchers can more accurately estimate the true frequency of these variants in Quebec, which is essential for interpreting their clinical relevance.<br \/>\nThis 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.<\/p>\n<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"ft-contenu__row row\">\n\t\t\t\t\t\t\t\t\t<div class=\"ft-contenu__label-col col-12 col-lg-4\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"surtitre\">Themes<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t<div class=\"ft-contenu__body-col col-12 col-lg-8\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"ft-contenu__texte\"><ul>\n<li>Chronic diseases<\/li>\n<li>Genetics and genomics<\/li>\n<\/ul>\n<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"ft-contenu__row row\">\n\t\t\t\t\t\t\t\t\t<div class=\"ft-contenu__label-col col-12 col-lg-4\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"surtitre\">Data types<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t<div class=\"ft-contenu__body-col col-12 col-lg-8\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"ft-contenu__texte\"><ul>\n<li>Genetic data<\/li>\n<li>Physical and cognitive measures<\/li>\n<li>Questionnaire data<\/li>\n<\/ul>\n<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\n\t\t\t\t<\/div>\n\t\t\t<\/div>\n\t\t<\/div>\n\t\n<\/div>\n\n\n<div class=\"htb htb-liste-posts-simple   default-margin-top  default-margin-bottom  bg-color color-none  htb-uid-3 \" >\n\t<div class=\"container-xxl\">\n\t\t\t\t\t<div class=\"htb-liste-posts-simple-header\">\n\t\t\t\t\t\t\t\t\t<div class=\"header-intro\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"title-box\">\n\t\t\t\t\t\t\t\t\t\t<h2 >Related resources<\/h2>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\n\t\t\n\t\t\t\t\t<div class=\"row posts-container\">\n\t\t\t\t<article class=\"htb-post-list-item post-type-post\">\n\t<div class=\"contenu-box\">\n\t\t\t\t\t\t\t<div class=\"post-top-box\">\n\t\t\t\t<div class=\"eyebrow-box\">\n\t\t\t\t\t<span class=\"surtitre\">Publications<\/span>\n\t\t\t\t\t<span class=\"year-txt\">\n\t\t\t\t\t\t2025\/03\/10\t\t\t\t\t<\/span>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"title-box\">\n\t\t\t\t\t<h3>Clinical Effect of Genetic Testing in Inherited Cardiovascular Diseases: A 14-Year Retrospective Study<\/h3>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t<\/div>\n\t\t\t<div class=\"post-footer-box\">\n\t\t\t\t<span class=\"see-more-txt\">View publication<\/span>\n\t\t\t\t<span class=\"bt-arrow bt-arrow--externe\" aria-hidden=\"true\"><\/span>\n\t\t\t<\/div>\n\t\t\t\t<a class=\"stretched-link\" href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/40074473\" target=\"_blank\" rel=\"noopener\" aria-label=\"Clinical Effect of Genetic Testing in Inherited Cardiovascular Diseases: A 14-Year Retrospective Study\">Clinical Effect of Genetic Testing in Inherited Cardiovascular Diseases: A 14-Year Retrospective Study<\/a>\n\t<\/div>\n<\/article>\n<article class=\"htb-post-list-item post-type-post\">\n\t<div class=\"contenu-box\">\n\t\t\t\t\t\t\t<div class=\"post-top-box\">\n\t\t\t\t<div class=\"eyebrow-box\">\n\t\t\t\t\t<span class=\"surtitre\">Theses and dissertations<\/span>\n\t\t\t\t\t<span class=\"year-txt\">\n\t\t\t\t\t\t2024\t\t\t\t\t<\/span>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"title-box\">\n\t\t\t\t\t<h3>D\u00e9terminants g\u00e9n\u00e9tiques des cardiomyopathies et arythmies h\u00e9r\u00e9ditaires associ\u00e9es \u00e0 la mort subite cardiaque.<\/h3>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t<\/div>\n\t\t\t<div class=\"post-footer-box\">\n\t\t\t\t<span class=\"see-more-txt\">View publication<\/span>\n\t\t\t\t<span class=\"bt-arrow bt-arrow--externe\" aria-hidden=\"true\"><\/span>\n\t\t\t<\/div>\n\t\t\t\t<a class=\"stretched-link\" href=\"https:\/\/papyrus.bib.umontreal.ca\/xmlui\/handle\/1866\/32599\" target=\"_blank\" rel=\"noopener\" aria-label=\"D\u00e9terminants g\u00e9n\u00e9tiques des cardiomyopathies et arythmies h\u00e9r\u00e9ditaires associ\u00e9es \u00e0 la mort subite cardiaque.\">D\u00e9terminants g\u00e9n\u00e9tiques des cardiomyopathies et arythmies h\u00e9r\u00e9ditaires associ\u00e9es \u00e0 la mort subite cardiaque.<\/a>\n\t<\/div>\n<\/article>\n\t\t\t<\/div>\n\t\t\t<\/div>\n<\/div>","protected":false},"excerpt":{"rendered":"","protected":false},"featured_media":0,"template":"","projet-categorie":[],"projet-status":[49],"projet-thematique":[53,51],"projet-type-donnees":[62,60,58],"projet-localisation":[64],"class_list":["post-1683","projet","type-projet","status-publish","hentry","projet-status-ongoing","projet-thematique-chronic-diseases","projet-thematique-genetics-and-genomics","projet-type-donnees-genetic-data","projet-type-donnees-physical-and-cognitive-measures","projet-type-donnees-questionnaire-data","projet-localisation-quebec-en"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.5 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Molecular diagnosis at the Cardiovascular Genetics Center of the Montreal Heart Institute: a 14\u2011year retrospective study | CARTaGENE<\/title>\n<meta name=\"robots\" content=\"index, follow, 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