“Why do some heart conditions run in families?”

We are working to understand more about the causes of heart conditions that run in families, and particularly cardiomyopathies – a range of conditions that affect the heart muscle, which can become thickened, stiff, scarred, or too thin.

Cardiomyopathy can reduce the ability of the heart to effectively pump blood around the body, and can lead to dangerous heart rhythm changes, with symptoms worsening over time.

Many of the commonest heart problems are caused by problems with the blood supply to the heart – coronary artery disease –  or problems with the heart valves which can become damaged over time.  Cardiomyopathy refers to an intrinsic problem with the heart muscle itself, when the blood supply is normal.  Cardiomyopathy can be environmental, with some caused by viral infections, medications, or lifestyle choices, but often they are genetic, and can be caused by a faulty copy of a gene inherited from parents.

We have been very interested in the Titin gene, which encodes the largest human protein and a key component of human muscle. It has been identified as the most important cause of dilated cardiomyopathy, but many people in the wider population also carry faulty copies of the Titin gene.  We are working to understand why some people develop serious cardiomyopathy, while others do not.  We believe that that are additional factors that either trigger heart disease, or protect against heart disease, in people with a genetic predisposition.

Through our work, we aim to uncover new mechanisms, diagnostics and therapeutic targets for cardiomyopathy.

We analyse and combine large data sets from patients, trials, and wider research programmes to help identify new patterns.

We employ a range of approaches combining analyses of genomic data, medical imaging, and evaluating electronic health records to make new insights into human cardiovascular disease.

Cardiomyopathy can vary in severity. It can lead to heart failure and result in death, regardless of age or health. Our research findings are providing diagnostic answers to affected families and helping to identify new therapeutic targets.