What Is the Life Expectancy for People with Marfan Syndrome?

Marfan syndrome, also known as Marfan syndrome, is a hereditary connective tissue disease that is autosomal dominant. The disease is characterized by slender and uneven limbs, fingers, and toes. The height is significantly higher than ordinary people, with cardiovascular Systemic abnormalities, especially combined heart valve abnormalities and aortic aneurysms. The disease may also affect other organs, including the lungs, eyes, dura, dura, etc.

Basic Information

nickname

Marfan syndrome, congenital mesoderm dysplasia, spider indications, limb slenderness

English name

Marfan syndrome

Visiting department

Cardiovascular Surgery

Common causes

Autosomal dominant inheritance, fibrillin-1 gene is the most common pathogenic gene

Common symptoms

Tall, spider fingers, congenital cardiovascular malformations, ectopic lens

Marfan syndrome clinical manifestations

Musculoskeletal system

There are mainly slender limbs, spider fingers (toes), flat arms with fingers longer than body length, hands hanging down over the knee, and the upper body is longer than the lower body. Malformed long head, narrow face, high bow, large ears and low position. Less subcutaneous fat, underdeveloped muscles, and wrinkled skin on chest, abdomen, and arms. Muscle tension is low and is weak. Ligaments, tendons, and joint capsules are elongated and loose, and joints are overstretched. Sometimes see funnel chest, chicken breast, kyphosis, scoliosis, spina bifida and so on.

Eye

There are mainly lens dislocations or subluxations, high myopia, cataracts, retinal detachment, and iris tremor. More men than women.

3. Cardiovascular system

About 80% of patients have congenital cardiovascular malformations. Common aortic dilatation, aortic valve insufficiency, aortic sinus aneurysm, dissection aneurysm, and rupture due to cystic necrosis of the aorta. Mitral valve prolapse, mitral regurgitation, and tricuspid regurgitation are also intrinsically important manifestations. Can be combined with congenital atrial septal defect, ventricular septal defect, tetralogy of Fallot, arterial duct closure, aortic constriction, etc. Can also be combined with various arrhythmias such as conduction block, pre-excitation syndrome, atrial fibrillation, atrial flutter and so on.

Marfan syndrome diagnosis

The main harm of Marfan syndrome is cardiovascular disease, especially the combined aortic aneurysm, which should be detected and treated early. According to the clinical manifestations of bones, eyes, and cardiovascular changes three main signs and family history can be diagnosed. It is clinically divided into two types: those with three main signs are called complete; those with only two are called incomplete. The easiest way to diagnose the disease is echocardiography, which can be performed by anyone who has doubts, and further diagnosis requires MRI (magnetic resonance imaging).

Marfan Syndrome Treatment

General treatment

No specific treatment is currently available. Some people claim that the application of male hormones and vitamins may be beneficial to the formation and growth of collagen. Congenital cardiovascular disease should be repaired early, and medical treatment should be used for patients with cardiac insufficiency and arrhythmia. Once diagnosed with aortic aneurysm or heart valve insufficiency, surgical treatment should be considered as appropriate, because the disease cannot be removed by drugs. Because aneurysms are at risk of rupture and bleeding, and heart valve insufficiency is also at risk of death from heart failure, experts recommend surgery despite the risks involved. In fact, with the advancement of technology, the success rate of surgery has been above 90%. If there is a ruptured aortic dissection aneurysm, it should be treated in time.

2. Surgical treatment

The surgical treatment of Marfan syndrome involves many disciplines, such as ophthalmology, orthopedics, cardiac surgery, and thoracic surgery. Surgery is life-saving and cannot be cured. Among them, the most harmful are the lesions of the heart and large blood vessels. Common aortic dissections and valvular lesions are common. The surgical method is to replace artificial blood vessels and heart valves. Chicken breasts and funnel breasts require surgical correction; ophthalmic problems are mainly lens dislocations or subluxations, which can also be treated surgically. In general, there is no special treatment, and eye abnormalities can be treated with surgery or medicine. In the case of aortic disease, propranolol (propranolol) can be taken to reduce ventricular bleeding and pressure and reduce the impact on the aortic wall. Therefore, it can delay the development of aortic root expansion and prevent the dissection of aortic dissection aneurysms. For pre-pubertal female patients, estrogen and progesterone can be taken to enter puberty in advance to prevent severe thoracic scoliosis due to too fast growth, patients with spinal deformity, moderate aortic insufficiency or significant expansion of the aortic root Patients can be treated with surgery.

Prognosis of Marfan syndrome

The speed of disease development varies greatly from individual to individual, but overall the prognosis is sinister. According to a survey by Mardoch et al., One third of patients with Marfan syndrome died before the age of 32, and two thirds died around the age of 50. In 1995, SilvermanJL reported an average age of only 40. The leading cause of death is overwhelmingly cardiovascular disease. The most common are heart failure or myocardial ischemia due to aortic aneurysm rupture, pericardial tamponade or aortic valve insufficiency, and mitral valve prolapse. Echocardiography confirmed that 95% of patients had varying degrees of cardiovascular disease. Crawford's study showed that when the diameter of the aortic root is greater than 6 cm, there is a risk of aortic valve insufficiency and aortic endometriosis. . ^[1-4]