Marfan Syndrome

(Marfan syndrome)

Marfan syndrome consists of abnormalities of the connective tissue to the ocular, skeletal and cardiovascular abnormalities lead (z. B. dilatation of the ascending aorta, which may result in aortic dissection). The diagnosis is made clinically. The treatment includes prophylactic administration of ?-blockers to slow the dilatation of the ascending aorta, as well as a prophylactic Aortenoperation.

Inheritance occurs as an autosomal dominant. The biomolecular defect stems from mutations in FBN1 gene coding for the glycoprotein fibrillin 1 – the main component of microfibrils that helps to anchor the cells in the extracellular matrix. The most important structural defect affects the cardiovascular system, the musculoskeletal system and the ocular system. The lungs and the central nervous system are also affected. There are many different manifestations of the genetic mutation that causes Marfan syndrome, but it is usually detected at the appearances of the long limbs, the aortic root dilation and the dislocated lenses.

Marfan syndrome consists of abnormalities of the connective tissue to the ocular, skeletal and cardiovascular abnormalities lead (z. B. dilatation of the ascending aorta, which may result in aortic dissection). The diagnosis is made clinically. The treatment includes prophylactic administration of ?-blockers to slow the dilatation of the ascending aorta, as well as a prophylactic Aortenoperation. Inheritance occurs as an autosomal dominant. The biomolecular defect stems from mutations in FBN1 gene coding for the glycoprotein fibrillin 1 – the main component of microfibrils that helps to anchor the cells in the extracellular matrix. The most important structural defect affects the cardiovascular system, the musculoskeletal system and the ocular system. The lungs and the central nervous system are also affected. There are many different manifestations of the genetic mutation that causes Marfan syndrome, but it is usually detected at the appearances of the long limbs, the aortic root dilation and the dislocated lenses. Symptoms and complaints cardiovascular system Significant findings include aortic aneurysm Klappenprolaps Most serious complications caused by pathological changes in the aortic root and the ascending aorta. The media of the aorta is affected especially at the places where take place the greatest hemodynamic changes. The aorta dilated slowly or suddenly disseziiert. The dissection begins at the coronary sinus, sometimes before age 10. The aorta is dilated in 50% of children and 60-80% of adults; In this case, a diastolic murmur above the aortic valve can be heard eventually. Redundant sails and chordae tendineae may lead to mitral valve prolapse or regurgitation; Mitral valve prolapse can cause a systolic click and a late systolic or, in severe cases, a holosystolic heart murmur. Bacterial endocarditis can The severity of the syndrome varies greatly in the affected flap entwickeln.Muskel-skeletal system. Patients with Marfan’s syndrome are higher than the average for the same age children and the family members. The arm span is greater than their total body length. A arachnodactyly (disproportionately long thin finger) is often identified by the thumb mark (the distal end of the thumb is along a clenched fist before). Sternumfehlbildungen – pectus carinatum (outward) or pectus excavatum (inside) – are a common image, as well as a hyperextension of the joints (but usually small flexion of the elbow), genu recurvatum (the curvature of the legs at the knee-to-back), pes planus (flat feet), kyphoscoliosis and diaphragmatic and inguinal hernias. The subcutaneous fat is reduced. The palate shows a high curvature. Marfan syndrome (musculoskeletal abnormalities) © Springer Science + Business Media var model = {thumbnailUrl: ‘/ – / media / manual / professional / images / 578-marfan-syndrome-musculoskeletal-abnormalities-S172-springer-high_de. jpg lang = en & thn = 0 & mw = 350? ‘, imageUrl:’ /-/media/manual/professional/images/578-marfan-syndrome-musculoskeletal-abnormalities-s172-springer-high_de.jpg?la=de&thn=0 ‘ title: ‘Marfan syndrome (musculoskeletal abnormalities)’ description: ‘ u003Ca id = “v37897651 ” class = “”anchor “” u003e u003c / a u003e u003cdiv class = “”para “” u003e u003cp u003eDieser patient with Marfan syndrome is greater than his family and the span of his arms exceeds its height. This patient also had a Bentall operation (replacement of aortic valves

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