Sudden Young Death: Mutations ‘Key’ to Inherited Heart Disease

Rare heart diseases are usually hereditary and are mainly related to the phenomenon of young sudden death.

The identification of the mutations responsible for these heart diseases can “break” the chain of heredity and interrupt the continuity of the transmission of these diseases to the next generation, through pre-implantation diagnosis before pregnancy.

The need to prevent sudden death by being able to diagnose and treat hereditary cardiovascular diseases led to the creation of the National Network for Precision Medicine in Cardiology and Prevention of Sudden Death, which is a partnership of public and university hospitals and research institutions of the country.

In the context of EDIA’s actions, a total of 5975 families with a history of either hereditary heart disease or young sudden death were recorded, two registries of hereditary heart disease and sudden death were created, while the creation of a relevant epidemiological map in our country is expected in the future.

The results of the actions of EDIA, which was formed in 2019, were presented by its coordinator Aris Anastasakis, during the “Workshop on Myocardiopathies: From clinical medicine to precision medicine: Learning through clinical cases”, organized by the Hellenic National Network of Precision Medicine in Cardiology and the 1st and 3rd Cardiology Clinics of AUTH.

“The possibilities that genetics gives us today is that we can check a family and not just see who manifests a hereditary disease, but also see who carries the predisposition to manifest it,” said Mr. Anastasakis and added:

“It is a fact that a genetic disease, if you interrupt it, you can break the chain of heredity and when you know what the mutation is you can not let it pass to the next generation. So, from studying a family, with an inherited disease or a young sudden death, to find people who didn’t know they had the predisposition, to break the chain, to not pass this mutation on to their children and to the next generation».

As Mr. Anastasakis mentioned, the diseases that cause young sudden death are usually hereditary and the first characteristic most of them have is that they do not have a warning phase, there is no process of initial symptoms and the first manifestation may be the sudden death.

Their second characteristic is that they can manifest in a subclinical way, that is, there is no typical disease, but parts and therefore specialization and special centers are needed to find the people who carry the mutation.

The third characteristic is that these entities are developed within aggregates – “nests”. For example, one in 5000 may have the disease of arrhythmogenic cardiomyopathy, but in Naxos, one in 800 has it, and there the rare disease turns into a public health problem, which needs specific treatment. “These were the factors that led us to build this project, which is part of a more general intervention in the community,” noted Mr. Anastastakis.

At the same time, he pointed out that while in the past the diagnosis of a hereditary disease in the hospital started and ended with the patient himself, now at EDIE the research is extended to the family members and children of the patient, in order to find out if they have a predisposition and if they are carriers of the pathological gene . “A job is done in the family and these people are identified who are the core of the new sudden death. So, we are blocking things from many sides”, pointed out Mr. Anastastakis.

Taking stock of EDIA’s three years of operation, Mr. Anastasakis said: “We have created clinical protocols, we have specific genetic panels and we know which genes we control, how these genes are decoded and their clinical significance.

We have protocols for forensic cases, how they are analyzed and how diagnoses are made based on the practice of the Forensic Departments of the Universities of Athens and Thessaloniki. By June 2022, we had 3760 families with hereditary heart disease and 2215 families of sudden young death whose members were screened. In total, there are 5,975 families in the country with a history of either hereditary heart disease or sudden young death among its members.”

He also mentioned that a registry of hereditary heart diseases and a registry of young sudden deaths were instituted and a digital structure was created. He also noted that treatments began to be formulated, with a precision medicine approach, while he pointed out that the first results of EDIA mark the beginning of the compilation of an epidemiological map in the country and added that educational programs and videos were developed.

The goals of EDIA are to apply precision medicine approaches to the treatment of inherited heart disease and young sudden death based on genetic testing in patients and their families.

This treatment consists in the promotion of precision medicine in cardiology, the prevention of young sudden death and the study of hereditary cardiovascular diseases in Greece.

EDIA is a partnership in which: the Unit of Inherited and Rare Cardiac Diseases of the Onassios University (Network coordinator), the First Cardiology Clinic of EKPA, the Myocardiopathies Department of the Cardiology Clinic of Heraklion University Hospital, the Myocardiopathies Laboratory of the First Cardiology Clinic of the AUTH, the 3rd Cardiology Clinic of the AUTH, the Department of Myocardiopathies and Prevention of Sudden Death of the Evangelismos hospital, the Forensic and Toxicology Laboratories of the EKPA and the AUTH, the Laboratory of Molecular Immunopathology and Histocompatibility of Onassios, the Institute of Molecular Biology and Biotechnology of the Foundation of Technology and Research (ITE-IMBB), the Medical Biological Research Foundation of the Academy of Athens (IIVEAA) and the Institute of Applied Biosciences of the National Center for Research and Technological Development (EKETA-INEB).

RES-EMP

Read the News today and get the latest news.
Follow Skai.gr on Google News and be the first to know all the news.