Marfan syndrome is an autosomal dominant connective tissue disease with an estimated
incidence of 1 in 5000 individuals. In 90% of cases it is caused by mutations in the gene for …

Different tendons are designed to withstand different mechanical loads in their individual
environments. Variable physiologic loading ranges and correspondingly different injury …

Pectus excavatum, the most frequent congenital chest wall deformity, may be rarely
observed as a sole deformity or as a sign of an underlying connective tissue disorder. To …

Background According to previous studies, aortic diameter alone seems to be insufficient to
predict the event of aortic dissection in Marfan syndrome (MFS). Determining the optimal …

Proteomics and the study of protein–protein interactions are becoming increasingly
important in our effort to understand human diseases on a system-wide level. Thanks to the …

Marfan syndrome (MFS) is a systemic disorder of connective tissue caused by mutations in
fibrillin-1. Cardiac dysfunction in MFS has not been characterized halting the development of …

Background Congenital abdominal aortic aneurysm (AAA) is distinctly rare in infants and
children and carries a high mortality rate. Our objective was to summarize the experience of …

Marfan syndrome is an autosomal dominant connective tissue disease with an estimated
incidence of 1 in 5000 individuals. In 90% of cases it is caused by mutations in the gene for …

The diagnosis of Marfan spectrum includes a large number of clinical criteria. Although the
identification of pathogenic variants contributes to the diagnostic process, its value to the …

Background Marfan syndrome is a genetic disease, presenting with dysfunction of
connective tissues leading to lesions in the cardiovascular and skeletal muscle system …