February 22, 2023
By definition, sudden death does not prevent. However, it would be possible to prevent its occurrence by a simple blood test. And this in the context of genetic heart disease. Explanations.
Certain genetic diseases affecting the heart increase the risk of sudden death. How to improve the prevention of these pathologies? By focusing on cardiogenetics, a discipline born in the 1990s and in full swing since 2010.
« This approach has significantly increased the chances of survival for many patients “, emphasizes Philippe Chevalier, cardiologist at the Louis-Pradel hospital in Lyon. An important point in terms of public health: indeed each year in France 60,000 patients lose their lives by sudden death. In those under 45, the underlying cause is often a genetic disorder.
Cardiogenetics consists of setting up close monitoring of patients at risk of developing one of the 200 genetic heart diseases. Namely that these pathologies are divided into two groups: cardiomyopathies characterized by an anatomical defect on the one hand, and arrhythmias when the heart beats too quickly, too slowly or irregularly on the other hand.
DNA extraction and electrocardiogram
Unlike lifestyle-related cardiovascular disease*, genetic heart disease is linked to “ mutations involved in the production of proteins essential for the proper functioning of the heart “, recall on this subject of the researchers of the Inserm.
But how can doctors spot this fragility? ” Concretely, we extract the patient’s DNA from a blood sample and sequence it. Then, using bioinformatics software, we carry out a targeted analysis of a panel of more than 100 genes known to be involved in the suspected pathology. “, explains Gilles Millat, head of the cardiogenetics laboratory of the Hospices Civils de Lyon.
The patient may then be prescribed specialized electrocardiograms and undergo cardiac imaging examinations. ” If the result of the genetic test confirms the diagnosis of the cardiologist, the latter prescribes an appropriate treatment : a change in lifestyle, drug or non-drug treatment (pacemaker, defibrillator), and/or the implementation of regular medical supervision », Supports Gilles Millat. Genetic tests are also offered to relatives of the patient (mother, father, brothers and sisters or children).
According to a study of 4,185 patients, “ these genetic tests now make it possible to identify with almost certainty the genetic mutations in question, in 30 to 40% of cases “. A figure that will only increase given the new mutations constantly discovered to be involved in heart disease.
10 referral centers
In France, cardiogenetics services are now available at the Pitié-Salpêtrière hospital in Paris (APHP), at the Louis-Pradel hospital in Lyon, the Necker, Ambroise Paré, Bichat, Mondor and Georges- Pompidou in Paris, in the University Hospitals of Nantes, Bordeaux and Grenoble.
To note : cardiogenetics might also enter into screening for the risk of myocardial infarction in so-called infarction families ” in which ” a combination of multiple genetic mutations which independently can each have tiny effects but which, combined, would significantly increase the risk of myocardial infarction “, concludes Professor Philippe Chevalier, cardiologist at the Louis-Pradel hospital in Lyon.
*smoking, alcohol, physical inactivity, unbalanced diet, stress, sleep disturbance
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Source : Inserm, January 31, 2023
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Written by : Laura Bourgault – Edited by: Emmanuel Ducreuzet