Marfan's syndrome is caused by congenital factors and has family characteristics. Some patients have abnormal cardiac development, and some patients have abnormal cardiovascular development. From a medical point of view, there are obvious physical defects. For example, the autopsies of American women's volleyball star Hyman and Russian skater Glinkov showed that they both suffered from Marfan's syndrome, and Glinkov's father died of the same disease.
According to Oxford Dictionary, Marfan's syndrome, also known as Spider Finger Syndrome, is a congenital hereditary connective tissue disease with autosomal dominant and family history. The main manifestations are bone, eye and cardiovascular system involvement. Cardiovascular manifestations are hypoplasia of elastic fibers in the middle aorta, dilatation of aorta or common abdominal artery, and formation of aortic aneurysm or common abdominal aneurysm. After the aorta expands to a certain extent, it will lead to the rupture of the aorta and death. The incidence rate is about 0.04 ‰ ~ 0. 1 ‰.
What is the pathogenesis of Marfan syndrome?
The defect of this pathogen is unknown. Some people think that the transverse binding between elastin and collagen peptide chain is destroyed, that is, lysyl oxidase deficiency. In addition, it is also related to the deposition of acidic mucopolysaccharide, the increase of sialic acid, the accumulation of hyaluronic acid, and the poor formation or excessive destruction of chondroitin sulfate.
What are the clinical manifestations of Marfan's syndrome?
1. Musculoskeletal system: It mainly has slender limbs, spider-like fingers (toes), the finger distance of the arm is longer than the body length, the hands hang over the knees, and the lower body is longer than the upper body. Long head, narrow face, high palatal arch, big ears and low position. Less subcutaneous fat, underdeveloped muscles, wrinkles in the chest, abdomen and arms. Low muscle tension indicates weak constitution. Ligaments, tendons and joint capsules are stretched and relaxed, and joints are overstretched. Sometimes you will see funnel chest, chicken breast, humpback, scoliosis, spina bifida and so on. 2, eyes: mainly lens dislocation or subluxation, high myopia, cataract, retinal detachment, iris tremor and so on. There are more men than women. 3. Cardiovascular system: About 80% patients are accompanied by congenital cardiovascular malformation. Common rupture caused by aortic dilatation, aortic valve insufficiency, aortic sinus aneurysm, dissecting aneurysm and cystic necrosis of aortic middle layer. Mitral valve prolapse and mitral insufficiency are also important manifestations of this disease. It can be complicated with congenital atrial septal defect, ventricular septal defect, tetralogy of Fallot, patent ductus arteriosus and coarctation of aorta. Can also be combined with conduction block, preexcitation syndrome, atrial fibrillation, atrial flutter and other arrhythmia.
How to diagnose and treat Marfan syndrome?
Marfan's syndrome is mainly harmful to cardiovascular diseases, especially with aortic aneurysm, which should be found and treated early. Diagnosis can be made according to the clinical manifestations and family history of bone, eye and cardiovascular changes. Clinically, it can be divided into two types: the one with three main characteristics is called complete type; Only two terms are called incomplete types. The simplest way to diagnose this disease is echocardiography, which can be used by anyone in doubt, and MRI (magnetic resonance imaging) is needed for further diagnosis. There is no specific therapy at present.
Some people think that the application of male hormones and vitamins may be beneficial to the formation and growth of collagen. Early surgical repair is suitable for congenital cardiovascular diseases, and medical treatment is suitable for patients with cardiac insufficiency and arrhythmia. Once diagnosed as aortic aneurysm or heart valve insufficiency, surgical treatment should be considered according to the situation, because drugs can not remove the disease. Because of the risk of aneurysm rupture and bleeding, heart valve insufficiency is also in danger of death from heart failure, although there are certain risks, experts still recommend surgery. In fact, with the progress of science and technology, the success rate of surgery is over 90%. If there is aortic dissection aneurysm rupture, it should be treated by surgery in time.
Reasonable exercise to prevent sudden death
It should be emphasized that sudden death of healthy young athletes is very rare, which is very important. But in most cases, it is impossible for you to know in advance whether you are healthy or not. Therefore, young people who want to engage in sports must ask a senior doctor for a detailed physical examination, and at the same time have experienced coaches to guide them, and avoid taking extreme training measures, let alone using drugs to improve their sports performance.
For the frequent sudden death of athletes, many citizens also have questions: Is it dangerous to exercise in peacetime except in the fierce competition field? Can sudden death be prevented? To this end, we interviewed experts and professors in sports medicine. It is reported that sudden death from sports is very rare. The most common causes of sudden death in sports are heart, brain, acute liver necrosis and congenital Marfan syndrome, and 82% of sudden death is caused by heart disease. In addition, some external causes can lead to heart accidents, such as infected lesions (tonsillitis, cholecystitis, etc. In the body, traumatic bleeding during exercise, scarring of the heart, exercise after satiety, hypoxia at high altitude, sun exposure, taking a hot bath immediately after exercise, etc. In severe cases, it will lead to sudden death. Experts tell us that sudden death without accidental trauma within 24 hours after strenuous exercise is sudden death. It seems that all the sudden deaths of young people around the age of 20 are due to viral myocarditis. Coronary heart disease is the main cause of sudden death in people over 40 years old. Moreover, sudden death mostly occurs between autumn and winter, and the specific reasons are unknown. The symptoms of sudden death appear, and people die suddenly in a few tens of seconds and minutes, which is difficult to treat, but sudden death is not inevitable. The high-risk groups of sudden death during exercise are: patients with cardiovascular disease, patients with family history of sudden death, patients with Marfan's syndrome, patients with myocardial hypertrophy, and patients with repeated syncope. To prevent sudden death from sports, a comprehensive physical examination is essential. Hyman, an American athlete, delayed two routine annual physical examinations because of the competition, which eventually led to adverse consequences. From the health point of view, only those who pass the physical examination can become athletes and engage in intense antagonistic sports. In addition, training will deform the myocardium, harden its blood vessels, and finally face the possibility of sudden death. People with frequent arrhythmia should do exercise tests to see if there is ventricular fibrillation. If this happens, they can't take part in violent confrontation exercises.
The essence of exercise is to improve physical fitness, explore one's own potential, and thus know oneself more accurately. Nowadays, competitive sports are increasingly pursuing ornamental and box office value, and the degree of competition is becoming more and more fierce. How to make people enjoy high-level sports competitions, ensure the safety of contestants and realize scientific sports has become a topic of concern. Besides fairness and justice, competitive sports should also be safe. Through scientific tests, similar tragedies can be avoided from happening again.
The fitness activities that citizens generally engage in are not antagonistic and dangerous, but improper exercise can also lead to shock and sudden death in severe cases. Due to work reasons, many people usually neglect exercise and rush to the front when the unit organizes activities, which is very harmful to the health. Authorities believe that non-athletes should start exercising a month ago and gradually exercise. Old people love to climb mountains, but their heart beats more than 170 times per minute during exercise. Pay attention. If this figure rises by 10%, it will be dangerous. In addition, when the weather changes dramatically, don't exercise "rain or shine". After suffering from colds, upper respiratory tract infections, acute tonsillitis, measles and other diseases, you should rest for a while before exercising. In short, fitness should be scientific.