The cardiogenetics, an emerging medical discipline, is to closely monitor patients at risk of developing one of the 200 known genetic heart diseases. Unlike cardiovascular diseases linked to unhealthy lifestyles, such as smoking or alcohol consumption, these diseases are caused by genetic mutations that affect the production of proteins essential for the proper functioning of the heart. THE cardiomyopathies, characterized by anatomical defects of the heart, and the arrhythmiascharacterized by irregular heartbeats, are the two main types of genetic heart disease. Patients with these diseases are at increased risk of sudden death, especially patients under 45 years of age.
Doctors can detect these mutations by analyzing the patient’s DNA from a blood sample, using bioinformatics software to identify the genes involved. Of the electrocardiograms specialists and cardiac imaging tests may also be prescribed to help confirm the diagnosis. If confirmed, the patient can then be seen prescribe appropriate treatment. This may include sound modification lifestyle, drug treatment, implantation of a pacemaker or defibrillator, or regular medical supervision. Close family members of the patient may also be tested for the same genetic mutation (source 1).
Genetic testing now makes it possible toidentify the mutations involved in 30 to 40% of cases, and this figure is expected to increase as new mutations are discovered. This approach has considerably increased chances of survival many patients, which is crucial given the large number of sudden death deaths in France each year.