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Approved Research

Genetic variation in the MYBPC3 and MYH7 genes and exercise levels

Principal Investigator: Professor Chris Semsarian
Approved Research ID: 62055
Approval date: July 27th 2020

Lay summary

Genetic heart disease can affect up to 1 in 200 people in the population, with symptoms ranging from no symptoms through to sudden cardiac death. These diseases are caused by variants in genes that control the structure and function of the heart muscle, as seen in hypertrophic cardiomyopathy (HCM) where the heart muscle is abnormally thick.

Many athletes develop "athlete's heart" which is a change in the structure and function of the heart in response to high level exercise. It is common for features of genetic heart disease to be very similar to features of athlete's heart, however athlete's heart does not cause disease. Athletes have a much higher incidence of sudden cardiac death than the general population, which may be due to an undiagnosed genetic heart disease.

Genetic research has shown that more changes in the genes that cause heart disease can cause small changes in the heart's structure, without causing disease. African-American's tend to show higher level of these gene changes, and interestingly are generally superior in athleticism.

We plan to investigate whether there is a relationship in the variation of heart disease genes and the ability of a person to undertake and perform exercise. We hope this will help us understand the mechanism these genes play in heart disease and their effect on heart function. This information can help clinicians manage patients with genetic heart disease, and also in screening of athletes for potential underlying genetic heart disease.