Genetic mechanisms in familial heart disease and heart failure

Línea de investigación

Laboratorio de Miocardiopatías Hereditarias.

Descripción

The group is focused on the study of the genetic mechanisms involved in the development of familial heart disease and heart failure.

In recent years, the main line of research of the group has been the understanding of the mechanisms that lead to phenotype expression in familial (genetic) cardiomyopathies. It is intriguing why despite the advances in genetic field, a genetic cause is still only detected in less than 40% of the families with Hypertrophic cardiomyopathy (HCM) and Dilated cardiomyopathy (DCM), the two main types of cardiomyopathies. Therefore, the group is focused in identifying new genes and new mutations that could explain the cause of the disease in the unsolved group of patients.

Another area of interest relies in the fact that in many of the identified DCM and HCM disease-causing genes the knowledge about the disease’s clinical course is still scarce, which makes it difficult to establish a prognosis, and anticipate complications. Thanks to the broad clinical and genetic expertise and the collaboration with several international centers, the group has contributed significantly to understanding the natural history of DCM associated with mutations in several genes, determining genotype/phenotype correlations and gene specific manifestations, and establishing prognosis and response to therapy (Amor-Salamanca et al, J Am Coll Cardiol 2017, Dominguez et al, J Am Coll Cardiol 2018, Lopez-Sainz et al, J Am Coll Cardiol 2020, Restrepo-Cordoba et al, Eur J Heart Fail 2021, Escobar-Lopez et al. J Am Coll Cardiol 2021).

Contacto

Pablo García Pavia.

Correo electrónico: pablogpavia@cnic.es.