Recent Developments in the Genetics of Cardiomyopathies

Abstract

The complex nature of familial cardiomyopathies is incompletely understood. The effective management of patients and their relatives therefore requires a multidisciplinary approach involving a specialist genetic counselling service. Genetic testing is clinically available, and our knowledge in this area continues to grow with developments in new technologies. Many of the genes associated are not specific to a particular type of cardiomyopathy, and recent data suggests that some patients may have more than one mutation or variant contributing to disease. Developments in next generation sequencing have enabled us to accurately and efficiently sequence these areas of interest, but the current capacity to analyse and interpret this data (bioinformatics) remains a major limitation. Genetic guided therapies have the potential to revolutionise our management of affected patients in the future but this is far from being a clinical reality at the current time.