It is estimated that they are present in 1 in 300 individuals in the general population.

It is estimated that they are present in 1 in 300 individuals in the general population.

In the young, sudden cardiac death can be caused by a hereditary family disease. It was not until the last 25 years, thanks to research, that we have been able to identify some of the genetic and molecular bases that cause sudden cardiac death in children, young people and athletes.

There are more than a hundred genes associated with sudden cardiac death. Often the first manifestation of this genetic disease is actually sudden death. This implies that there may be other family members at risk.

These diseases may have different forms of presentation:

Sudden death of young athlete. Many of these diseases are highly lethal in adolescence and some of them, such as hypertrophic cardiomyopathy are the most frequent cause of sudden death in the athlete.
Sudden infant death syndrome. Hereditary heart disease may be responsible 30% for sudden infant death syndrome, a term that defines the death of a child under one year of age, which remains unexplained after a complete autopsy.
Sudden unexplained death. It has been discovered that a third of all deaths with a negative autopsy are associated with an inherited cardiac disease.
Sudden death in epilepsy. 20% of patients with epilepsy can suffer a sudden death . Epilepsy can be caused by a genetic problem in the brain. If this genetic defect affects the heart, it can cause sudden death.
Dilated cardiomyopathy of unknown origin. A significant percentage of dilated cardiomyopathy have a genetic basis. Genetics can be conclusive in some of these cases.
These diseases are not only diagnosed after sudden death, but are also often diagnosed after a syncopal arrhythmias or unexplained episode.

Genetic testing can identify carriers of these mutations and take preventive measures to prevent sudden death.

The laboratory works closely with the Inherited Heart Disease Unit of the Hospital Josep Trueta to make an overall genetic and clinical assessment of the risk of sudden death.

Cardiovascular Genetics Center
IDIBGI C/ Dr Castany s/n
Parc Hospitalari Martí i Julià (M-2)
17290 Salt, Girona
Tel: 872 987087