BACKGROUND Marfan syndrome is an autosomal dominant disorder of connective tissue caused by mutations in the fibrillin 1 gene (FBN1). FBN1 mutations have been associated with a broad spectrum of phenotypes. Neonatal Marfan syndrome has unique clinical manifestations and mutations. OBJECTIVE To determine if there is a discernible genotypic-phenotypic correlation associated with the unique muta...

BACKGROUND Marfan syndrome is a genetic disorder with considerable morbidity and mortality. Presently, clinicians use the 2010 revised Ghent nosology, which includes optional genetic sequencing of the FBN1 gene, to diagnose patients. So far, only a few studies based on older diagnostic criteria have reported a wide range of prevalence and incidence. Our aim was to study prevalence, incidence, a...

marfan’s syndrome (mfs) is a genetic disorder associated with autosomal dominant inheritance. in mfs, the most prevalent cause of death is cardiovascular involvement. here we introduce a family with a severe penetration of mfs. eleven members of this family have mfs (father, two daughters, three sons, and five grandchildren). the most common cardiac involvement in our patients was mitral valve ...

• Vol 10 • March 2008 Ocular Features of Marfan Syndrome The main ocular features of Marfan syndrome, all of which can result in decreased vision, include bilateral ectopia lentis (lens dislocation), myopia and retinal detachment [1]. About 50% of patients with Marfan syndrome are diagnosed by an ophthalmologist; some individuals may present with isolated ocular signs suggestive of this syndrom...

Marfan syndrome is a systematic genetic disease of the connective tissue. The cardiac affection would predict the prognosis and ischemic stroke might complicate it. The purpose of this work is to discuss the mechanisms of the ischemic stroke in Marfan syndrome which have to be considered in all young patients of ischemic strokes. We report the case of a 17-year-old male patient who presented wi...

AIMS Patients with Marfan syndrome have an increased risk of life-threatening aortic complications, mostly preceded by aortic dilatation. In the FBN1(C1039G/+) Marfan mouse model, losartan decreases aortic root dilatation. We recently confirmed this beneficial effect of losartan in adult patients with Marfan syndrome. The straightforward translation of this mouse model to man is reassuring to t...

Marfan syndrome is an autosomal dominant genetic disorder caused by a connective tissue defect. A nine-year-old girl was referred to our pediatric endocrinology clinic for tall stature. Physical examination revealed a lens dislocation with strabismus, high palate, positive wrist and thumb signs, joint hypermobility, and pes planus. Transthoracic echocardiography revealed dilatation of the aorti...

Pregnancy is considered a period of high risk for cardiovascular complications in patients with Marfan syndrome. Therefore the choice of anesthetic technique for delivery should be focused on minimizing hemodynamic fluctuations, and preferably provide adequate post-operative pain control. For this purpose, neuraxial blocks, such as spinal or epidural anesthesia, may be deemed a safe option. How...

Marfan syndrome is the most common inherited connective tissue disorder, affecting approximately 1 in 10,000 live births. The cardinal features of Marfan syndrome are the abnormalities of the skeleton (tall stature, arachnodactyly, and joint hyperelasticity), eye (lens subluxation), and aorta (root aneurysm with proclivity toward rupture and dissection). Aortic catastrophe accounts for most of ...

Congenital Marfan syndrome is a rare and severe disease of the newborn, causing devastating and often fatal effects on the cardiovascular, pulmonary, and musculoskeletal systems. Familial mutations of FBN1 have been studied and identified in Marfan syndrome, but the congenital variant is often due to de novo mutations, limiting the diagnostic capabilities of genetic screening. Ultrasound is ess...