[The Marfan syndrome and related connective tissue disorders].
The Marfan syndrome is an inherited disorder of the connective tissue which is mainly caused by a mutation in the fibrillin-1 gene. The defect in the connective tissue protein can lead to several organ dysfunctions. For the life expectancy, the cardiovascular aspect is of paramount importance. Patients with Marfan syndrome may develop aortic aneurysms and valvular heart defects. The risk of aortic aneurysms consists in the development of aortic dissection or rupture with their fatal consequences. Besides the cardiovascular manifestation, the skeletal and ocular system can also be affected. The skeletal manifestation is often characterised by long limbs, arachnodactyly, and abnormal joint flexibility along with other signs. Patients may also have dislocated lenses, ectasia of the dural sac, stretch marks, spontaneous pneumothorax, recurrent hernia, or a family history suspicious for Marfan. During the past years, other related connective tissue disorders with analogous organ manifestation have been described (e.g., Loeys-Dietz syndrome). In this article we present the basic knowledge about these connective tissue disorders, and we mention new insights in the recently explored pathophysiology of the disorder which is a possible target for future medical treatment options. Furthermore, recent new concepts for the prophylactic treatment of the aortic manifestation are explained.
Siepe
Matthias
M
Chirurgisches Universitätsklinikum Freiburg, Hugstetter Strasse 55, 79106 Freiburg. matthias.siepe@uniklinik-freiburg.de
Löffelbein
Florian
F
D001014:Aortic Aneurysm / Q000209:etiology / Q000517:prevention & control; D001842:Bone and Bones / Q000473:pathology; D003240:Connective Tissue Diseases / Q000188:drug therapy / Q000235:genetics / Q000473:pathology*; D000071838:Fibrillin-1; D000071837:Fibrillins; D006801:Humans; D008382:Marfan Syndrome / Q000188:drug therapy / Q000235:genetics / Q000473:pathology*; D008840:Microfilament Proteins / Q000235:genetics; D054392:Adipokines
D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines