The treatment of cardiomyopathy

José Luis de la Pompa

Centro Nacional de Investigaciones Cardiovasculares Carlos III (CNIC), Madrid, Spain

One in every 500 people suffers from hypertrophic cardiomyopathy, an inherited heart disease that causes thickening of the myocardium, the heart muscle. This thickening makes it harder for the heart to contract and relax, complicating the ejection of blood and forcing the heart to work harder. This puts patients at risk for serious complications and other related conditions.

Research has shown that half of the patients with this disease have mutations in genes linked to the functioning of sarcomeres, the functional units responsible for the contraction of muscle fibres. Another group of patients carry one or more mutations in genes unrelated to sarcomeres. It is not fully understood whether these latter mutations cause the disease or if the presence of multiple mutations in the same patient increases the severity of the cardiomyopathy. Resolving these questions is of great importance in achieving accurate and early diagnosis, which would allow rapid initiation of monitoring and treatment, and ultimately improve patient outcomes.

This project seeks to discover new mutations in non-sarcomeric genes. To achieve this, samples from families affected by the disease that do not have mutations in sarcomeric genes will be analysed. Once these mutations have been identified, studies will be conducted using human cells and mouse models to determine their contribution to the development of the pathology. The ultimate aim is to use the knowledge gained to optimise both diagnosis and management of the disease.

• Juan Ramón Gimeno Blanes, Universidad de Murcia, Spain

• Ángel Raya Chamorro, Bellvitge Biomedical Research Institute (IDIBELL), L’Hospitalet de Llobregat, Spain

Novel genetic and mechanistic studies of hypertrophic cardiomyopathy

€999,668.18