• Vol 10 • March 2008 194 Marfan syndrome is a genetic, dominant, systemic connective tissue disease with variable clinical features, some of which are life threatening. The prevalence is 1:10,000 live births [1]. The syndrome results from mutations in the FBN1 gene, on chromosome 15, which encodes for the fibrillin 1 protein. Fibrillin is an important compound in the extracellular matrix and t...

INTRODUCTION Marfan syndrome is a heritable disorder of the connective tissue that affects many organ systems. However, the most serious complication in patients with Marfan syndrome is progressive aortic root dilation, which may lead to aortic dissection, rupture or aortic regurgitation. Prevention of these life threatening complications is of major importance. CASE PRESENTATION We report he...

Late reoperation for proximal aortic and arch complications after previous composite graft replacement in Marfan patients. An aortic valve-sparing operation for patients with aortic incompetence and aneurysm of the ascending aorta. root surgery in Marfan syndrome: comparison of aortic valve-sparing reimplantation versus composite grafting. We would like to congratulate Okamoto and colleagues fo...

Marfan syndrome is multisystem connective tissue disorder that primarily involves the skeletal, cardiovascular, and ocular systems. The gastrointestinal complications in Marfan syndrome are rare, with only a few case reports described in the literature. We present a 25-year-old woman who presented with acute abdominal pain for 1 day. The imaging features revealed complex diaphragmatic hiatus he...

Marfan syndrome consists of a group of dominantly inherited disorders of connective tissue with wide clinical variability. Using the candidate gene approach, we have attempted to map the gene defect in a large French Marfan syndrome family with no ocular manifestations. We performed linkage studies with polymorphic probes for five structural procollagen genes. The data obtained exclude linkage ...

CASE REPORT A case is presented of an acute onset lens particle glaucoma originating from a crystalline lens spontaneously dislocated into the vitreous for more than 20 years in a patient diagnosed with Marfan syndrome. DISCUSSION Marfan syndrome is a connective tissue disorder with autosomal dominant inheritance caused by fibrillin gene mutation. Ectopia lentis is the predominant ocular abno...

Plastic surgeons performing prosthetic breast reconstruction face a demanding task in manipulating and reconstructing the altered soft tissue envelope in patients with connective tissue disease (CTD). Despite the difficulties inherent to this unique patient population, there are no reports in the literature describing breast reconstruction or tissue expansion in patients with CTD. We therefore ...

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...

Marfan syndrome is an autosomal dominant inherited disorder of the connective tissue with pleiotropic manifestations in the classic triad of ocular, skeletal, and cardiovascular systems. Characteristic clinical features include a thin tall stature, pectus carinatum or excavatum, scoliosis, joint hypermobility, arachnodactyly, pes planus, a high arched palate, and ectopia lentis. The syndrome ha...