in Nantes, a center to prevent another sudden death in the same family

For three weeks, Steve Diguet, 39, has been living with a defibrillator implanted under the skin, in his armpit. “We must see him as a guardian angel, and not as a constraint”says this former workshop manager and welding trainer, who had to undertake a professional retraining to wear this box intended to save his life in the event of a problem. “If my brother had had this, it would have saved him…”. On February 2, 2022, his older brother, then aged 42, died of a cardiac arrest that occurred seven days earlier, in the middle of the night. “I had spoken to him the day before on the phone, he was brilliant”remembers the resident of Maulévrier (Maine-et-Loire) in an emotional voice.

During the last days of his life, in intensive care, “They made him do lots of tests. And they realized that he had Brugada syndrome.he continues. This pathology, almost invisible, causes heart rhythm disorders. If Steve Diguet, father of three children, was able to find out what his brother had died of, he also learned that he himself was affected, thanks to the care center dedicated to the sudden death of young people, installed in the premises of the thorax institute of the Nantes University Hospital.

50,000 sudden deaths per year

In 2012, when the center opened, it was the first of its kind in France. Eight years earlier, the reference center for hereditary rhythmic diseases had begun to focus on patients suffering from diseases of genetic or hereditary origin that could cause sudden death, as well as their families. But nothing was done for someone who died suddenly, without follow-up. It is therefore this gap that Professor Vincent Probst, who is the co-founder with Hervé Le Marec, came to fill. “In more than 50% of cases, the immediate implementation of a family study makes it possible to identify the cause of death, to explain it to relatives and to prevent the occurrence of sudden death in other members. family risk”mentions the Nantes University Hospital, on its website.

“Sudden death is death that occurs within one hour of the onset of symptoms”recalls Vincent Probst, from a room intended to bring families together during clinical assessments. Around 50,000 people die suddenly each year in France, making it the leading cause of death that is still largely unknown. A ruptured aneurysm is widely cited to explain a sudden death, but this is often not the case. If a good part is explained by heart attacks favored by external factors, approximately 2000 to 5000 deaths of subjects under 45 years of age are linked to hereditary rhythmic diseases. Hence screening to be carried out in the immediate circle to prevent other tragic deaths. “The aim of the approach is to carry out clinical screening in first-degree relatives.”

Support the risk of guilt

In addition to the partnership with the intensive care services, the center's professionals work with the Samu who, in the event of death, collects blood and stores it. Three weeks later, the center calls the families “to suggest that we carry out genetic analyzes on the deceased subject and that we can set up family screening”explains Professor Vincent Probst. Specialists also work with prosecutors and forensics to take postmortem samples during autopsies.

At the end of these analyses, “either we find something and we will be able to give an explanation” of death, which makes it possible to put in place preventive measures for family members. “Either we find nothing. In this case, we will not be able to give an explanation but we will be able to reassure by saying that we have carried out a complete assessment, that there is nothing, that we are at peace”. So, “this is beneficial in both cases”.

Sometimes people introduce themselves to the center, after doing research on the internet. Valérie Cotard, a nurse for 11 years in this structure, receives calls from Montpellier, Toulouse or Dijon. Although other similar networks exist elsewhere, including in Lyon and Paris, that of Nantes remains the largest and most structured. On Wednesday, patients who had lost their child in 2001 were seen. “It’s not because we don’t have a sample that we can’t do anything”indicates the clinical research nurse. In addition to identifying the cause of death, “the families are very happy to know that we can do something”observes the clinical nurse. “The interest is to be able to put in place preventive measures”.

The defibrillator is not the only solution: drug treatments can be prescribed. For example, for long QT syndrome, if no diagnosis has been made, approximately 20% of patients with the disease die. With treatment, there is no more death. Support for families is taken very seriously to counter the “potential risk of guilt”. Indeed, when a parent discovers that they have transmitted the disease, the shock can be brutal. “There is psychological support work for families. It’s very important to be able to help them”concludes Professor Vincent Probst.