In:
Praxis, Hogrefe Publishing Group, Vol. 102, No. 24 ( 2013-11-01), p. 1483-1488
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.
Type of Medium:
Online Resource
ISSN:
1661-8157
,
1661-8165
DOI:
10.1024/1661-8157/a001496
Language:
German
Publisher:
Hogrefe Publishing Group
Publication Date:
2013
