Summary:

Sudden cardiac death (SCD) is one of the main mortality factors in the general population. In young people (<50 years of age), SCD can be caused by hereditary diseases and can be linked to sports practice. In children under one year of age, SCD is known as Sudden Infant Death Syndrome. Sometimes, death occurs even during the intrauterine period.

Methodology:

In collaboration with the Institute of Legal Medicine to 2012 we initiated the MOSCAT project, which analyzes victims who have suffered a sudden death at a young age (before the age of 50 years). We performed an exhaustive genetic analysis of the main genes associated with SCD with a genetic panel designed and validated in our center. We then assessed the relatives to the Familial Heart Disease Unit of the Hospital Trueta.

Expected results:

Although clinical and genetic guidelines indicate the need for a genetic study in the case of sudden death at a young age, this is practically only done systematically in Catalonia thanks to the MOSCAT project, a pioneering MSC project worldwide,

The results indicate that up to 40% of cases may have a hereditary cause, with very important implications for families, who may be at risk of sudden death, without knowing it.

Objectives, impact and proposed solution:

SCD is a very important health problem in our society with a very big impact on families.

From Girona, we work with foundations and public institutions to improve knowledge. We do this with diagnostic strategies such as the use of genetic tools, to acute treatment tools such as the implementation of defibrillators throughout the territory.