Marfan’s syndrome is an inherited connective tissue disorder that is autosomal dominant and is characterized by long, thin, uneven limbs, fingers, and toes, significantly taller than normal, and associated with cardiovascular system abnormalities, particularly combined heart valve abnormalities and aortic aneurysms. The disease may also affect other organs, including the lungs, eyes, dura mater, and hard jaw. Clinical manifestations 1. Skeletal muscular system. The main features are long and thin limbs, spider fingers (toes), arms with finger spacing greater than the length of the body, hands drooping over the knees, upper body longer than the lower body. Long head deformity, narrow face, high palatal arch, large and low ears. Little subcutaneous fat, underdeveloped muscles, wrinkled skin on the chest, abdomen and arms. The muscle tone is low, and the body is weak. Ligaments, tendons and joint capsules are elongated and lax, and joints are hyperextended. Sometimes funnel chest, chicken chest, kyphosis, scoliosis, spina bifida, etc. are seen. 2. Eye. There are mainly crystal-like dislocation or subluxation, high myopia, cataract, retinal detachment, iris tremor, etc. More males than females. 3.Cardiovascular system . About 80% of patients have congenital cardiovascular anomalies. Progressive aortic dilatation, aortic valve closure insufficiency, aortic sinus aneurysm due to cystic necrosis of the middle layer of the aorta, intercalated aneurysm and rupture are common. Mitral valve prolapse, mitral valve insufficiency, and tricuspid valve insufficiency are also important manifestations of this syndrome. It can be combined with congenital atrial septal defect, ventricular septal defect, tetralogy of Fallot, patent ductus arteriosus, and aortic constriction. It can also be combined with various arrhythmias such as conduction block, pre-excitation syndrome, atrial fibrillation, atrial flutter, etc. Diagnostic criteria Modern diagnostic criteria were established at the 7th International Congress of Human Genetics in 1986 and clearly defined at the first International Symposium on Marfan Syndrome in 1988, and in 1996, de Paepe A was re-amended to be considered as the unified criteria. 1. Skeletal system. The main criteria: at least 4 of the following manifestations – chicken chest; funnel chest requiring surgical correction; reduced ratio of upper volume/lower volume, or ratio of upper limb span length/height greater than 1.05; positive wrist sign, finger sign; scoliosis greater than 20 degrees, or anterior displacement of the spine (scoliosis count); reduced elbow abduction (<170 degrees); mid-ankle mid-joint dislocation forming a flat foot; any degree of, acetabular proclination (iliac joint entropion) (determined on X-ray). Secondary criteria: moderate funnel chest: abnormally enhanced joint movement; high palatal arch with crowded overlapping teeth; facial features: long head - normal cephalic index of 75.9 or less, zygomatic hypoplasia, intraocular sunken eyes, reduced jaw, and downsloping lid fissures. Conditions to be met for skeletal system involvement: at least two major criteria or one major plus two minor criteria. 2. Ocular system. Primary criteria: dislocation of the lens. Secondary criteria: abnormally flattened cornea (measured by corneal surface meter); increased axial length of the eye (measured by ultrasound); hypoplasia of the iris or ciliary muscle causing pupillary narrowing. Ocular system involvement is subject to criteria: primary criteria or at least two secondary criteria. 3. Cardiovascular system. Primary criteria: dilated ascending aorta with or without aortic regurgitation and at least a dilated Valsava's sinus; ascending aortic coarctation. Secondary criteria: mitral valve prolapse with or without mitral regurgitation; dilated main pulmonary artery (in the absence of valve or peripheral pulmonary stenosis and other obvious causes, and age less than 40 years); calcified mitral annulus (age less than 40 years); dilated or entrapped descending or abdominal aorta (age less than 50 years). Conditions to be met for cardiovascular involvement: one major criterion or one minor criterion is sufficient. 4. Pulmonary system. Major criterion: none. Secondary criteria: spontaneous pneumothorax; apical pulmonary alveoli (confirmed by chest radiograph). The pulmonary system can be considered involved if one is present. 5. Skin and body envelope. Primary criteria: none. Secondary criteria: skin atrophy (stretched marks), not related to significant overweight, pregnancy or repeated compression; recurrent hernia or incisional hernia. The presence of one secondary criterion is considered skin or body envelope involvement. 6. Dura (spinal) membrane . Primary criteria: CT or MRI finding of dural bulge. Secondary criteria: none. 7, family or genetic history. Primary criteria: one parent, child, or sibling meets this diagnostic criteria; the presence of a known mutation in the FBNI gene that causes Marfan syndrome; the presence of a known haplotype of the FBNI gene that is identical to that of a patient with Marfan syndrome in his or her family. Secondary criteria: none. Due to the significance of family or genetic history in the diagnosis, one of the main criteria must be present. The main risk of Marfan syndrome is cardiovascular lesions, especially combined aortic aneurysms, which should be detected early and treated early. The diagnosis is made on the basis of the clinical presentation of the three main signs of skeletal, ocular and cardiovascular changes and family history. Clinically, there are two types: those with all three signs are called complete; those with only two are called incomplete. The easiest way to diagnose the disease is by echocardiography, which can be performed in all cases of suspicion, and MRI (magnetic resonance imaging). Treatment There is no specific treatment available. Some advocate the application of male hormones and vitamins, which may be beneficial for the formation and growth of collagen. Early surgical repair of congenital cardiovascular lesions is advisable, and medical treatment is recommended for cardiac insufficiency and arrhythmias. Once the diagnosis of a combined aortic aneurysm or heart valve closure insufficiency is confirmed, surgical treatment should be considered as appropriate, as medications cannot remove this condition. Because of the risk of rupture and bleeding from the aneurysm and the risk of death from heart failure from an insufficiently closed heart valve, experts recommend surgery despite the risks involved. In fact, with technological advances, the success rate of surgery is now above 90%. If a ruptured aortic coarctation aneurysm is indicated, surgery should be performed promptly. The surgical treatment of Marfan's syndrome involves many disciplines, such as ophthalmology, orthopedics, cardiac surgery and thoracic surgery, etc. Surgery is life-saving and not curative. The most dangerous are the heart and large blood vessel lesions, commonly aortic coarctation and valve lesions, and the surgical procedure is the replacement of artificial blood vessels and heart valves. There are various surgical procedures to replace the artificial blood vessels and heart valves. The problems of chicken chest and funnel chest need surgical correction; the problems of ophthalmology are mainly lens dislocation or subluxation, which can also be treated surgically. In general, there is no special treatment, and ocular anomalies can be treated with appropriate surgery or medication. In case of aortic lesions, propranolol (Takeostasis) can be taken to reduce the ventricular blood displacement and pressure and to reduce the impact on the aortic wall, therefore, delaying the development of aortic root dilatation and preventing the occurrence of aortic coarctation aneurysm For female patients before puberty, estrogen and progesterone can be taken to advance puberty and prevent scoliosis deformity due to excessive growth Patients with severe thoracic and spinal deformities, patients with Patients with moderate aortic valve atresia insufficiency or marked dilatation of the aortic root may be treated surgically. The rate of lesion progression varies greatly among individuals, but the overall prognosis is treacherous. According to Mardoch et al, one third of patients with Marfan syndrome die before the age of 32 years and two thirds die around the age of 50 years. 1995 Sileverman JL reported an average age of only 40 years. The primary cause of death is overwhelmingly due to cardiovascular pathology. The most common are heart failure or myocardial ischemia due to aortic aneurysm rupture, pericardial compression or aortic valve insufficiency and mitral valve prolapse. Echocardiography demonstrates varying degrees of cardiovascular pathology in 95% of patients, and Crawford's study showed that when the aortic root diameter is greater than 6 cm, there is a risk of aortic valve insufficiency and aortic endovascular dissection.