Marfan syndrome is a congenital mesodermal dysplasia disease. It is a hereditary connective tissue disease, which is autosomal dominant and some cases are autosomal recessive. The specific cause is unknown, which is thought to be related to protein's congenital metabolic abnormality. The incidence of this syndrome is about 4 people /65438+ 10,000 people. The clinical manifestations of the syndrome are different, mainly involving bones, cardiovascular system and eyes. It was first reported by Antoine, a French pediatrician, in 1896, and later a similar case was reported, which was officially called Marfan syndrome in 193 1.
On May 2065438+1 1, National Health Commission, Ministry of Science and Technology, Ministry of Industry and Information Technology, State Administration of Pharmaceutical Products and state administration of traditional chinese medicine jointly issued the Notice on Publishing the First List of Rare Diseases, and Marfan Syndrome was included in the first list of rare diseases.
The name of this disease comes from Anthony Marfan, a French pediatrician, who first discovered and described the symptoms of this disease in the process of treating a 5-year-old girl in 1896. The incidence of Marfan's syndrome has no gender orientation, and its mutation rate has no geographical orientation. It is estimated that about 60,000 (0.02% of the population) to 200,000 people in the United States suffer from this disease.
Carriers of pathogenic genes have a 50% chance to pass them on to the next generation. Most patients with Marfan's syndrome have family history, but at the same time, 15~30% patients are caused by their own mutation-the spontaneous mutation rate is about one in ten thousand. Marfan syndrome is also an example of dominant negative mutation and haploid deficiency. Its incidence is related to the expression of variables, but the incomplete penetrance has not been formally determined.
clinical picture
Musculoskeletal system is mainly composed of slender limbs, spider-like fingers (toes), fingers with arms extending horizontally longer than body length, hands hanging above knees, and upper body longer than lower 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.
The eyes mainly include lens dislocation or subluxation, high myopia, cataract, retinal detachment, iris tremor and so on. There are more men than women. 3. About 80% patients with cardiovascular system 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, mitral regurgitation and tricuspid regurgitation are also important manifestations. 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.
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.