Congenital chest wall or pectus deformities including pectus excavatum (funnel chest) and pectus carinatum (pigeon chest) affect a significant proportion of the general population and up to 70% of patients with Marfan syndrome. Patients often experience significant morbidity and psychological distress, which can worsen with age. Here we discuss new techniques for both operative and non-operativ...

purpose : to report two patients with spontaneous scleral perforation and bleb formation associated with marfan syndrome (mfs) which one of them also showed bilateral optic nerve dural ectasia. case reports : an 11-year-old girl was referred with progressive myopia. past medical history was negative. slit-lamp examination revealed bilateral scleral thinning and perforation with bleb formation, ...

Thoracic aortic aneurysm (TAA) is the life-threatening complication of Marfan syndrome (MFS), a connective tissue disorder caused by mutations in the fibrillin-1 gene. TAA is characterized by degradation of elastic fiber, suggesting the involvement of matrix metalloproteinase (MMP)-2 and -9, the activation of which is regulated by TIMP (tissue inhibitor of MMP) types 1 and 2. We hypothesized th...

Genetic counseling is an important process in the care of patients with Marfan syndrome and related disorders (MSRD) because it provides individualized risk assessment that can aid in determining prognosis and help healthcare specialists optimize management. Marfan syndrome affects many body systems, but aortopathy, or disease of the aorta, is the most common cause of death. Currently, resource...

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...

The Marfan syndrome is an autosomal dominant disorder of connective tissue characterized by a large number of possible mutations, and by heterogeneity of clinical presentation primarily in skeletal, ocular and cardiovascular organ systems. Cardiovascular complications of the disease are responsible for high mortality. The case of a young patient with a progressive advanced abdominal aorta dilat...

The Marfan database is a software that contains routines for the analysis of mutations identified in the FBN1 gene that encodes fibrillin-1. Mutations in this gene are associated not only with Marfan syndrome but also with a spectrum of overlapping disorders. The third version of the Marfan database contains 137 entries. The software has been modified to accommodate four new routines and is now...

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...