The complexity behind mendelian disease: investigation into genetic and environmental influences in arrhythmogenic cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease, where heart muscle can be replaced by fibrous fatty tissue. It is thought to affect at least 1 in 1000 people. Many people have a mild form of ARVC and need minimal treatment. Others, however, develop serious heart rhythm disturbances, which can lead to sudden cardiac death. In this Intermediate Clinical Research Fellowship, Dr Srijita Sen-Chowdhry aims to find out what factors could cause the variation in the severity of ARVC. Is this because of differences in underlying genes or because of environmental factors, such as different levels of physical activity, which could stress out the heart? A large group of patients with ARVC will be invited to have genetic testing and assessment of their physical activity levels in addition to routine clinical care and follow up. Dr Sen-Chowdhry will analyse these results to establish the influence of these factors on disease presentation. The results will be used to develop better tools for diagnosis, risk prediction and treatment of ARVC.
Project details
| Grant amount | £549,399 |
|---|---|
| Grant type | Fellowships |
| Application type | Intermediate Clinical Research Fellowship |
| Start Date | 01 May 2010 |
| Duration | 10 years |
| Reference | FS/10/011/27881 |
| Status | In Progress |
