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The heart can look healthy
According to the head of the Ambulatory Cardiology Department of Clinicas Santara doc. Jūratė Barysienė, a rare disease is defined as one that affects less than five out of every 10,000 people. population. Compared to the overall mortality from cardiovascular disease, the number of cases and deaths is not high, but it is a truly dangerous disease that can lead to sudden death, especially at a young age.
However, when it comes to rare cardiovascular thresholds, these are certainly not isolated cases – one can occur in one in two thousand. population, others – for one in 10 thousand. They are incurable, but they can be treated and their complications can be prevented, the worst of which is sudden death.
No structural changes are found in the heart, it seems that a person should be healthy, and the risk of sudden death is very high.
These diseases are divided into two main categories. The first is related to structural changes in the heart, the second is when no structural changes are found in the heart, it seems that a person should be healthy and the risk of sudden death is very high. In this case, the disease hides in the electrical system of the heart. Some diseases affect not only the heart, but also the kidneys, muscles, joints, and lungs.
“Rare structural heart diseases are more related to the heart muscle itself: it can thicken, dilate or dilate, its structure is damaged, and therefore it is at risk of rupture,” said Daiva Jančauskaitė, a cardiologist at the Santara Clinics.
From 80 percent. Sudden deaths in young people are related to genetics, which is why, according to doctors, it is very important to perform genetic tests and identify the factors that can cause heart rhythm disorders that can result in sudden death. In case of such a need, from 2015 all genetic tests are reimbursed.
How to suspect a rare heart disease?
“When examining the patient, we carry out routine examinations: electrocardiogram, echocardiography, etc. Often these tests alone are enough to suspect a rare disease. For example, during ultrasound, we can see structural changes, for example thickening heart wall or valve changes, an enlarged aorta If these tests are not sufficient, additional challenge or exercise tests may be performed.
The main symptom of these diseases is unclear loss of consciousness. It really should raise suspicions as to why a young man loses consciousness during exercise for no clear reason, even though he is strong, athletic and healthy. Another symptom is palpitations. This is also a very serious sign. There may also be pain in the heart area, shortness of breath. It is true that these diseases are not always easy to diagnose, sometimes it is a complicated and quite long process “, called J.Barysienė.
Some heart diseases are caused by stress, physical exertion, that is, heart disorders usually occur in these circumstances. For example, due to structural changes, the muscle may thicken so much that it will prevent blood from flowing into the general circulatory system, so during exercise, you may feel heavy in the chest, shortness of breath.
“Dangerous situations with these diseases can be caused even by fever (a temperature of more than 38 degrees): the patient simply loses consciousness. This indicates that a threatening arrhythmia has occurred. Some diseases are very dangerous for women after giving birth. In such cases, a man must awaken the child for six months before the body’s hormonal system recovers, as a sudden cry from the child or an alarm signal can cause a life-threatening arrhythmia.
The good news is that we already have good diagnostic capabilities today – knowing the altered gene, we can prescribe treatment – both drugs and lifestyle recommendations, and if there are not enough drugs, we put in a defibrillator: if a sudden death occurs, it will work immediately. and the patient’s life will be saved. “Said the interlocutor.
Even fever can provoke dangerous situations – the patient simply loses consciousness.
The doctor recounted the case when in 2012. A 25-year-old soccer player just died on the field during a soccer match; could not be revived. At autopsy, his heart was found to be healthy. He turned out to have so-called electrical heart disease and this death could have been prevented if the disease had been diagnosed in time.
2016 The three doctors who treated him, two doctors and a doctor who gave him first aid in an inappropriate way, did not use a defibrillator for the accidental murder of this footballer. Today, we already have such a great advance that patients with these diseases participate in professional sports. They play sports with defibrillators. There is more than one record on the Internet when a soccer player falls to the ground and gets up after two minutes because the defibrillator is triggered.
Where to go
According to D.Jančauskaitė, several dozen rare heart diseases can be counted, and by calculating their subtypes, several hundred would also occur. They are now declared a priority health area across Europe. Santara Clinics is also part of a common European network of centers and specialists for the treatment of rare heart diseases and has had the opportunity to consult and seek advice and assistance from European specialists in the field of rare cardiovascular diseases since September.
Since 2016, there is a centralized patient monitoring system for these diseases, which collects data from more than 600 patients. About 200 new patients with suspected rare heart disease are seen each year.
A patient with suspected rare heart disease should be referred to a third-level cardiologist for consultation at the Santara Clinics Outpatient Cardiology Department. Starting in October, it will be possible to book a remote consultation by phone at the reception of the medical institution. Telephone registration is from 10 am to 3 pm By the way, these consultations will be available not only to patients, but also to treating physicians seeking advice.
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