An Argentinean doctor based in Spain led an international investigation in which he identified the new gene and linked it to hypertrophic cardiomyopathy, an inherited disease associated with sudden death. He is Juan Pablo Ochoa, a 42-year-old doctor born in La Pampas, but three years later moved to Trenque Lauquen where he lived while he went to Launai to study medicine at La Plata University. Since 2014, he is in Galicia, where he works for a healthcare company and a hospital.
Ochoa-led work was published in the American College of Cardiology (JACC) magazine, which emphasized the importance of the discovery given that half of the cases of hypertrophic cardiomyopathy are unknown. "With this remarkable progress, the percentage of ignorance will be about 5 percent lower," the doctor said during a telephone conversation with José María Costa's magazine, the newspaper La Nación, which was the first to announce news.
In Spain, there were more than 40 health centers, as well as two centers in the United Kingdom and Denmark. "This gene was not related to the disease. There was no evidence that this gene was linked to hypertrophic cardiomyopathy," Ochoa posted on his Twitter account.
The investigation began when "we found four different families from the small town of Murcia, Spain," said Pampeano in a telephone conversation with La Nación. The city has fewer than 30,000 inhabitants and, by tracking the family trees of the locals, they discovered that most of them had a common ancestor for seven generations. "Then we identified the mutation in 30 families and continued for a long time so that we could link the FHOD3 gene to hypertrophic cardiomyopathy."
Hypertrophic cardiomyopathy is the most common congenital heart disease affecting one in 500 people. Its presence is associated with an increased risk of cardiovascular problems: sudden death and heart failure. It also results in a deterioration in the quality of life of patients due to symptoms.
The disease occurs due to mutations in genes that are important for the development of the heart muscle, which causes its disproportionate increase; This is called hypertrophy. Despite the development of science, it is currently not possible to identify the genetic cause of the disease in most of the patients.
"The young athletes who have sudden death in many cases are because they have hypertrophic cardiomyopathy, which is the most common cause of death for those under the age of 35, after this age (the most common cause) is an infarction," explained a professional.
Ochoa, who was trained at the University of La Plata and specializes in the Favaloro Foundation, added: "If it is suffering, it is at higher risk of arrhythmias and it has symptoms of anger (shortness of breath). Others are asymptomatic and discovered when they are in control and have noticed that the heart thickness is increased. "
The work done by Ochoa in the Galician Health Code Code and related to the Hospital Juan Canalejo Chuac is new because it allowed the discovery of a new gene and this could explain 2 to 4 percent of the causes of hypertrophic cardiomyopathy, "said Ochoa." It seems a bit, but that's a lot, because half of it suffers from people not diagnosing, "he said.
The cardiologist said that the most important job is not the scientific scope, but the practical application. "Although the publication is derived from the experience of cardiovascular genetics, it seeks to provide answers that contribute to clinical management of patients, in order to translate knowledge about personalized medicines, which specifically applies to each patient, and in particular to their relatives."
They will benefit from screening strategies to detect those who are at risk or at risk of developing the disease before being clinically exposed, "the doctor concluded from the other side of the phone.