pathology: marfan-syndrome

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Marfan-Syndrome

Definition of

A genetic mutation with an incidence of 1:5000 to 1:10,000, resulting in increased laxity and elasticity of the connective tissue, which is inherited autosomal dominantly in approx. 60-70% and a new mutation in 25-40%. The term Marfan syndrome is better than the term Marfan phenotype disease, as there is no uniform picture. It was first described in 1896 in a child with arachnodactyly (arachnodactyly). The Marfan phenotype can affect bones, connective tissue, muscles and ligaments. Those affected are usually taller than average, have elongated limbs and slender hands and feet. Defective connective tissue leads to instabilities not necessarily only in the musculoskeletal system. The heart and vascular system can also be affected: aortic or mitral valve insufficiencies, aortic root aneurysms, bicuspid aortic valve, aortic dissection. Eyes: loosening of the holding apparatus, short-sightedness, glaucoma, cataract, keratoconus(progressive thinning of the cornea), retinal detachment, blue sclera, possibly iridodonesis (iris flickering with head movement), megalocornea. Skeletal system: Long skull, hyperlaxity, high (Gothic) palate, arachnodactyly, funnel or keel chest (chicken breast), tall stature, scoliosis, hyperkyphosis, muscular hypotrophy, flat feet, velvety skin with stretch marks (striae), Tendency to inguinal hernias, atlantoaxial or cervico-occipital instabilities, coxa profunda (too deep hip sockets) with a tendency topain, impingement and arthrosis, meningeal cysts in the spinal cord, changes in the sacrum. Internal organs: weakness of the connective tissue, which can lead to pneumothorax, for example. While life expectancy in the 1970s was still 30-40 years, today it is almost normal.

Cause

  1. inherited or new mutation

Diagnosis

  1. The diagnosis is made on an interdisciplinary basis
  2. Electronic analysis of facial features, e.g. via app.

Symptoms

  1. see above

Complications

  1. cardiac complications
  2. aortic prophylactic beta-blockers already at the age of 3-4 years
  3. In adults, surgery to prevent aortic rupture or dissection for diameters greater than 55 mm
  4. Strict antibiotic endocarditis prophylaxis for the smallest indications
  5. Ophthalmologic surgery if necessary
  6. Without adequate diagnosis and treatment, often lethal aortic dissection
  7. WS-OP if necessary

Therapy

  1. Causal therapy unknown

DD

  1. Ehlers-Danlos syndrome
  2. Loeys-Dietz syndrome
  3. Stickler syndrome
  4. Weill-Marchesani syndrome type I
  5. Acromicric dysplasia
  6. Ectopia lentis syndrome
  7. marfanoid syndromes