Génétique de la cardiomyopathie et de la mort subite chez le sujet jeune



Institut de cardiologie de Montréal


Domaine : santé  circulatoire et respiratoire

Programme Chercheurs-boursiers cliniciens - Junior 1

Concours 2018-2019

Cardiac arrest is a major cause of death. In 80% of cases, the arrest is caused by blockage in blood vessels supplying the heart and causing a heart attack. In most other cases, the cause of cardiac arrest is hereditary, meaning that it is recurrent within families. In such cases, sudden death occurs in children or young adults without apparent heart disease, including professional athletes. Not only does the family suffer the loss of a loved one, but becomes anxious knowing that other family members may be at risk for the same fate. Due to important developments in human genetics, we now can identify the genetic defect (mutation) causing cardiac arrest in approximately half of the cases.

This knowledge somewhat informs the family about the cause of cardiac arrest in their relative. More importantly, it allows us to perform a blood test to identify family members at risk of sudden death and initiate preventive therapy. The situation is however more complex. For yet unknown reasons, some individuals that carry the disease-causing mutation never develop the disease. In these cases, preventive therapy is not useful and may occasionally cause harm. In other cases, the disease-causing mutation remains unknown and identification of family members at risk becomes more challenging.

The objective of my research program is to better understand the genetic determinants of diseases associated with cardiac arrest and identify genetic factors that modify disease in addition to the causal mutation. Using state-of-the-art large scale genetic studies in international cohorts, we will identify new genes causing these diseases or affecting their severity. Our ultimate goal is to identify more efficiently individuals at risk of sudden death and offer preventive treatment adapted to their genetic profile.