Human Marfan and Marfan-like Syndrome associated mutations lead to altered trafficking of the Type II TGFβ receptor in Caenorhabditis elegans

Marfan and Marfan-like syndromes

1872-9312/$e seefrontmattera2009A doi:10.1016/j.artres.2009.01.003 Summary With the help of both clinical and genetic diagnostic tools, the spectrum of inherited disorders affecting the arterial system has extended tremendously over the past decades. Discriminating these different entities is important since prognosis and treatment may differ substantially according to the diagnosis. Here we pr...

DIFFUSE ARTER IAL ECTASIA IN MARFAN SYNDROME

A 22 year old male referred with palpitation. General appearance and physical exam impressed us in that the patient has Marfan syndrome. Cardiac catheterization showed diffuse arterial ectasia. We found no previous report of this generalized diffuse ectasia.

Marfan syndrome.

Marfan syndrome.

CARDIOVASCULAR DISORDERS aortic anomalies aortic aneurism aortic arch, anomalies aortic valvular, anomalies cardiac congenital defects cardiomegaly cardiopathy, congenital heart conduction defects, cardiac arrhythmia, including tachycardia, atrial fibrillation, ventricular fibrillation heart conduction defects, cardiac arrhythmia, including: bradycardia, cardiac dysrhythmias mitral valve, defec...

Marfan syndrome

ont matter & 2006 006.09.007 thor. Tel.: +44 117 9. : Andrew.McBride@ rtin.gargan@ubht Summary Marfan syndrome is an inherited connective tissue disorder with multi-organ system involvement caused by mutations in the gene encoding the glycoprotein fibrillin-1 (FBN1). The condition presents to the orthopaedic surgeon with an array of musculoskeletal problems. This article will review the pathoge...