Sudden cardiac death
Coronary heart disease, myocardial infarction, is the most frequent cause of sudden death in individuals over 40 years of age. In individuals under 40, sudden cardiac death is usually caused by a hereditary problem, therefore, a familial disease. Often the first manifestation of this genetic disease is precisely the sudden death of a child or young person.
There are two large groups of diseases associated with sudden death: cardiomyopathies, diseases in which the heart is not structurally normal, and channelopathies, electrical diseases that cause sudden death in a normal heart.
These diseases should not only be suspected after sudden death, but also after a syncopal episode or arrhythmias of unknown origin in young individuals.
We are well aware of some of the risk factors for cardiovascular disease, most of which we can modify with good health habits. But unfortunately we also have genetic factors that predispose us to suffer from cardiac events. The identification of hereditary factors which place individuals and family members at risk can be determinant for the adoption of improved health habits for the whole family.
Familial hypercholesterolemia affects almost one in 300 people in the general population. High levels of cholesterol, especially LDL cholesterol, causes an increased risk of cardiovascular disease and myocardial infarction at younger ages.
There are several genes associated with familial hypercholesterolemia and the identification of variants associated with the disease is essential to adopt more drastic prevention and treatment measures to avoid the development of heart disease.
Thrombophilia is a predisposition, genetic or acquired, to developing both venous and arterial thrombosis. Practically half of the thromboses in people under 50 years of age have a hereditary component.
Thrombophilia increases the risk of venous and arterial thrombotic disease, as well as pregnancy complications. Genetic studies are recommended in patients with repeated miscarriages or in myocardial infarctions at young ages.
The detection of individuals at risk is essential to reduce the risk through preventive measures (elimination of tobacco and oral contraceptives) and early treatment.