منابع مشابه
Marfan syndrome: clinical diagnosis and management
Marfan syndrome is a multisystem connective tissue disorder usually associated with mutation in fibrillin, and occasionally with mutation in TGFBR1 or 2. The clinical diagnosis is made using the Ghent nosology, which will unequivocally diagnose or exclude Marfan syndrome in 86% of cases. Use of a care pathway can help implementation of the nosology in the clinic. The penetrance of some features...
متن کاملGuidelines for the diagnosis and management of Marfan syndrome.
1.1 Definition and prevalence Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder involving the cardiovascular, skeletal and ocular systems, the integument, lungs and dura. Cardinal manifestations include aortic aneurysm and dissection, ocular lens dislocation and long bone overgrowth. In 90-93% of cases, MFS is caused by mutations in FBN1. Mutations in a second gene, TGFB...
متن کاملManagement of Marfan syndrome.
Marfan syndrome is a variable, autosomal dominant connective tissue disorder, affecting mainly the cardiovascular system, eyes, and skeleton. The incidence is approximately 1 in 9800, and around 26% of cases have no family history, the condition resulting from a new mutation. Characteristic features include progressive aortic dilatation associated with aortic valve incompetence, mitral valve pr...
متن کاملDiagnosis and Genetics of Marfan syndrome
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متن کاملMedical management of Marfan syndrome.
Marfan syndrome is an autosomal dominant, multisystem disease characterized by long bone overgrowth and other skeletal abnormalities, dislocation of the ocular lens, pneumothorax, decreased skeletal muscle mass, mitral valve prolapse, and dilatation of the aortic root. Antoine BernardJean Marfan first described the syndrome in 1896 in a young patient with peculiarly long and thin digits (subseq...
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ژورنال
عنوان ژورنال: SA Heart
سال: 2017
ISSN: 2071-4602
DOI: 10.24170/4-1-2105