title: [Marfan syndrome and related connective tissue disorders].
abstract: Marfan syndrome is an autosomal dominantly inherited connective tissue disorder with a prevalence of approximately 1:5000 people. Typical manifestations affect the cardiovascular system, eyes, skeleton, lungs, skin and dura mater. Most patients have a so-called marfanoid habitus with tall stature, long and narrow limbs, a long and narrow head shape and other skeletal abnormalities. Of particular medical importance are the possible complications such as severe scoliosis or pectus excavatum, spontaneous pneumothorax, retinal detachment, or an acute glaucoma evoked by lens luxation. However, the most dangerous complication is acute dissection of the ascending aorta, which is usually the result of a slowly progressive aortic dilatation. With the introduction of therapies the average life expectancy of previously just 32 years could be raised to above 60 years.
authors.affiliation: Institut für Medizinische Genetik, Universität Zürich, Schlieren.
authors.forename: Katharina
authors.initials: K
authors.lastname: Steindl
mesh_terms: D001018:Aortic Diseases / Q000175:diagnosis / Q000235:genetics*; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics; D003240:Connective Tissue Diseases / Q000175:diagnosis / Q000235:genetics*; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D000071837:Fibrillins; D006801:Humans; D055947:Loeys-Dietz Syndrome / Q000175:diagnosis / Q000235:genetics; D008382:Marfan Syndrome / Q000175:diagnosis / Q000235:genetics*; D008840:Microfilament Proteins / Q000235:genetics; D017346:Protein Serine-Threonine Kinases / Q000235:genetics; D000077293:Receptor, Transforming Growth Factor-beta Type I; D000077294:Receptor, Transforming Growth Factor-beta Type II; D018125:Receptors, Transforming Growth Factor beta / Q000235:genetics
chemical_list: D000071837:Fibrillins; D008840:Microfilament Proteins; D018125:Receptors, Transforming Growth Factor beta; D017346:Protein Serine-Threonine Kinases; D000077293:Receptor, Transforming Growth Factor-beta Type I; D000077294:Receptor, Transforming Growth Factor-beta Type II
keywords: Aortendissektion; Loeys-Dietz syndrome; Loeys-Dietz-Syndrom; Marfan syndrome; Marfan-Syndrom; Netzhautablösung; Skoliose; aortic dissection; dissection aortique; décollement de rétine; retinal detachment; scoliose; scoliosis; syndrome de Loeys-Dietz; syndrome de Marfan