Clinical outcome in the Marfan syndrome with ascending aortic dilatation followed annually by echocardiography.

This study reviewed the utility of echocardiography in following patients with the Marfan syndrome for whom cardiovascular complications, especially aortic root dilatation, dissection and rupture, are the major causes of morbidity and mortality. We conclude that echocardiography can be used to follow asymptomatic patients with the Marfan syndrome.

A single mutation that results in an Asp to His substitution and partial exon skipping in a family with congenital contractural arachnodactyly.

Congenital contractural arachnodactyly (CCA) is an autosomal dominant disorder of connective tissue and is characterized by multiple congenital contractures, arachnodactyly, and external ear malformations. Recent investigations indicate that mutations in the fibrillin-2 gene (FBN2) cause CCA. Here, we report a G-->C transversion at nucleotide 3340 (G3340C) of FBN2 in a family with phenotypic characteristics of CCA.

The bone mineral status of patients with Marfan syndrome.

Osteopenia at the hip and low total body calcium content have been reported in women with Marfan syndrome. Using dual X-ray absorptiometry (DXA), we evaluated the lumbar spine L2-L4 and proximal femur bone mineral density (BMD,/cm2) in 32 women and 16 children with Marfan syndrome. The women were 38 +/- 10 (SD) years old (23-58 years); their mean height was 178.

Fibrillin abnormalities and prognosis in Marfan syndrome and related disorders.

Marfan syndrome (MFS), a multisystem autosomal-dominant disorder, is characterized by mutations of the fibrillin-1 (FBN1) gene and by abnormal patterns of synthesis, secretion, and matrix deposition of the fibrillin protein. To determine the sensitivity and specificity of fibrillin protein abnormalities in the diagnosis of MFS, we studied dermal fibroblasts from 57 patients with classical MFS, 15 with equivocal MFS, 8 with single-organ manifestations, and 16 with other connective tissue disorders including homocystinuria and Ehlers-Danlos syndrome. Abnormal fibrillin metabolism was identified in 70 samples that were classified into four different groups based on quantitation of fibrillin synthesis and matrix deposition.

A Gly1127Ser mutation in an EGF-like domain of the fibrillin-1 gene is a risk factor for ascending aortic aneurysm and dissection.

Ascending aortic disease, ranging from mild aortic root enlargement to aneurysm and/or dissection, has been identified in 10 individuals of a kindred, none of whom had classical Marfan syndrome (MFS). Single-strand conformation analysis of the entire fibrillin-1 (FBN1) cDNA of an affected family member revealed a G-to-A transition at nucleotide 3379, predicting a Gly1127Ser substitution. The glycine in this position is highly conserved in EGF-like domains of FBN1 and other proteins.

Bone mineral status of women with Marfan syndrome.

Purpose: With effective surgical correction of vascular abnormalities, skeletal health is an important issue for patients with Marfan syndrome. Osteopenia has been radiographically described, yet no systematic evaluation of bone status has been published. The purpose of this study was to determine the bone mineral density (BMD, g/cm2) in women with Marfan syndrome.