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Cardiovascular disease has been one of the leading causes of death for Lithuanians for many years. And while far fewer patients die from rare heart diseases, they are no less dangerous, doctors say.
“On April 14, 2012, a great soccer game takes place and a 25-year-old soccer player is dying on the soccer field. It is not possible to revive it, but after an autopsy, a healthy and normal heart is found “, – this is an illustration shared by the head of the Department of Ambulatory Cardiology of VUL Santara Clinics, Assoc. Jūratė Barysienė.
Hang new ones
A rare heart disease is identified in the European Union that affects less than 5 out of 10,000 people. population.
However, according to Dovilė Jančauskaitė, a cardiologist at the Santara Clinics, these are certainly not isolated cases.
“Some are rarer, others are more common, some may affect one in 2,000, others one in 10,000. Population. However, these are definitely not isolated cases and we have to talk about them,” said the doctor.
It is emphasized that these diseases are incurable, but they are treatable and possible complications can be prevented.
“Yes, compared to the overall mortality from cardiovascular diseases, the number of people who suffer from these diseases and those who die from them is significantly lower. However, these diseases are very important to us for several reasons.
In particular, it is a dangerous disease that can cause sudden cardiac death, especially at a young age.
Secondly, the time has finally come to talk about them, because today we already have enough knowledge and instrumental, laboratory and professional opportunities to help these patients to design life strategies ”, explained J. Barysienė.
There may be no physical changes
Rare cardiovascular diseases are divided into two main categories.
“Some are related to structural changes in the heart and others, when they are not found after the examination. In such cases, it seems that the person should be healthy and the risk of sudden death is very high. I am talking here about rare diseases of the system cardiac electrical disorders, also called channelopathies. Changes and diseases are hidden in the electrical system of the heart, “said the head of the Department of Cardiology for Outpatients.
As specified by D. Jančiauskaitė, rare structural heart diseases are more related to the structure of the heart and its muscle.
“It is evaluated if it is thickened, if the chambers have enlarged or if only one chamber of the heart has enlarged, leading to threatening arrhythmias,” he said.
What symptoms would help to suspect
When asked what symptoms might help suspect such rare heart disease, experts emphasized that they differ depending on whether heart, electrical, or structural disease is suspected.
“The most common symptoms when electrical heart disease is suspected are unexplained syncope, that is, fainting, especially during exercise. There are also changes in the electrocardiogram, threatening arrhythmias, rematches, ”said D. Jančiauskaitė.
J. Barysienė, emphasizing it, emphasized that the main symptom that allows to suspect such a disease is an unclear loss of consciousness at an early age.
“It should always lead to suspicions as to why a young person loses consciousness for no apparent reason, such as during exercise. This is a very threatening symptom.
Another symptom is palpitations, palpitations, pain in the heart area, shortness of breath. Of course, these are common symptoms that generally suggest cardiovascular disease, ”he said.
Triggered by stress
It is emphasized that there may be many reasons for causing channelopathies. Often it is stress, physical exertion, one of the reasons may even be fever.
“But there are several gene-dependent triggers. Here is a certain syndrome that is especially dangerous for women. So, for example, it means that during the first 6 months after childbirth, before the woman’s hormonal system is restored, a man should approach the child, because a sudden cry from a child or a set alarm can cause an arrhythmia life threatening for a woman.
After the diagnosis of channelopathy, the person is presented with certain risk factors, is given treatment, and lifestyle recommendations are given.
Who saves from sudden death
“If there is no medical treatment or it is not effective enough, an electric cardioverter defibrillator is implanted. Then, in the case of sudden death, it will work and the patient’s life will be saved immediately,” said the doctor.
At this point, he recalled history as in 2012. April 14 A 25-year-old footballer died suddenly during a big soccer game.
“An autopsy fails to revive it, a healthy and normal heart is found during the autopsy, and later publications seem to be a channelopathy.” Therefore, this could be prevented if the disease is caught early, “said J. Barysienė.
In his opinion, this story will be relevant to both professional and amateur sports.
Currently, people with these diseases also play professional sports, but they do so with defibrillators. You can see records of the athlete playing, falling and standing after 2 minutes and his life saved, “he added.
It also takes 30 years to diagnose
According to J. Barysienė, sudden deaths of young people are 80 percent. they are related to genetics.
At the same time, the doctor stressed that the diagnosis of a rare disease is not easy, it can take up to 30 years from the appearance of the first symptoms. it is a complex and sometimes very long process. but you need to start working on it now.
“Fortunately, today we have great opportunities in collaboration with our genetics center to study a young man, identify factors per gene that can provoke, cause arrhythmias that later lead to sudden cardiac death and prescribe the appropriate treatment.
So it is possible to plan the life of the patient and help him to live a full life. If in the past we were very afraid of these diseases because we could not predict them and help the patient, today the situation is completely different. And what we call future, genetics, prognosis, is now and we must take advantage of that ”, he emphasized.
The interviewee emphasized that the VUL Santara Clinics, the only hospital in Lithuania where the latest genetic tests are performed, no longer need to be sent to laboratories in other countries:
“All these surveys have been paid for in the past and since 2015. They are reimbursed by the State Health Insurance Fund. Of course, the selection of patients must be very careful, and this is done by consensus.”
You can see the full conversation here:
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