Familial cardiomyopathies and sudden death syndrome

Problem

Cardiac arrhythmias are responsible for nearly a million deaths each year in the West. They can lead to sudden death, which normally occurs without any prior symptoms and can affect men and women of all ethnicities and age groups, including babies. In people over the age of 50 years, sudden death is usually caused by coronary or ischemic diseases. In the population under the age of 50 years, familial cardiopathies caused by genetic abnormalities are the main cause of these fatal episodes.

In recent years, thanks to technological advances in the field of molecular biology, it has been possible to identify numerous genetic abnormalities responsible for diseases associated with sudden cardiac death. Modern gene-sequencing technology makes it possible to analyse a large number of genes (even exomes or genomes) in a cost-effective way and in a short time. In cases where familial disease is suspected, a thorough genetic study is carried out to identify the causes of the disease. Once this has been identified, a family genetic study is carried out to identify those members of the family who are at risk of suffering from the disease.

Genetics contributes to improving our understanding of the pathophysiological mechanisms of arrhythmias and this has made it possible to improve diagnosis and risk stratification of patients, and to focus on personalized treatment.

Approach

The group studies the clinical, electrical, structural, and genetic variables involved in the appearance, natural history and prognosis of these diseases, with the aim of identifying risk indicators for sudden death and preventing it. In the case of diseases that affect cardiac function, it works to prevent their progression.

The research group has a multidisciplinary team of IDIBAPS-HCB specialists and works closely with different centres in Catalonia that are pioneers at the national and international level. This makes it possible to provide a joint response for families affected by arrhythmogenic diseases associated with sudden death. Finally, the group also works in partnership with other centres around the world towards establishing an accurate diagnosis that makes it possible to adopt personalized measures in both the prevention and treatment of familial sudden death.

Impact

The group’s scientific contributions in recent years have been based on clinical diagnosis, adopting personalized preventive measures, and research into the genetic causes of heart disease. The group is now a gold standard centre in sudden cardiac death at national level and is a key actor at international level in the field of familial heart disease.

Over the past 15 years, it has taken part in over 50 research projects on sudden death, has participated in over 200 scientific publications focusing on familiar cardiomyopathies, and has been invited to over 300 lectures at congresses and courses on familiar cardiomyopathies and sudden death. It has been, and continues to be, a member of national and international networks in the field of malignant arrhythmias and sudden death. As a result of the group’s work, new diseases associated with sudden death in healthy people have been identified (for example Brugada syndrome or Short QT syndrome) and many genetic and clinical findings have been described that make it possible to adopt the most suitable treatment measures in each case.