Homocystinuria, a disorder originating in defects in the methionine metabolism, is characterized by an elevated plasma concentration of homocysteine. Most patients have a defect in the cystathionine-beta-synthase, the key enzyme in the conversion of homocysteine to cysteine. Many abnormalities in the connective tissue of patients with homocystinuria resemble those seen in Marfan syndrome, cause...

UNDERSTANDING THE REGULATION of the extracellular matrix of the heart is essential to understanding the chronic changes in heart function in disease states such as hypertension, heart failure, and diabetes. This understanding relies on overturning the concept that the extracellular matrix of the heart is inert. As a structural protein, the major role of collagen, a major component of the extrac...

In this issue of the journal, Kiotsekoglou et al. report on right ventricular systolic dysfunction in patients with Marfan syndrome (MFS). Over the past years, several studies have demonstrated mild, though significant, left ventricular systolic and diastolic dysfunction in patients with MFS. This is the first study indicating impaired right ventricular function. Marfan syndrome is an autosomal...

Abstract Background Aortic dissection and rupture is the main cause of early cardiovascular mortality in patients with Marfan syndrome (MFS). MFS caused by a defect fibrillin-1, building block microfibrils extracellular matrix which binds transforming growth factor beta (TGF-beta) via interaction latent TGF-beta binding proteins (LTBPs). Multiple mouse models, both pharmaceutically induced gene...

1978 www.thelancet.com Vol 366 December 3, 2005 Marfan’s syndrome is a multisystem connective tissue disorder of autosomal dominant inheritance. Approximately one in every 5000 individuals is affected, though this figure is probably an underestimate. The condition shows no predilection for any particular race or geographical background. It exhibits complete penetrance but variable expression an...

Fibrillin is the major component of extracellular microfibrils. Mutations in the fibrillin gene on chromosome 15 (FBN1) were described at first in the heritable connective tissue disorder, Marfan syndrome (MFS). More recently, FBN1 has also been shown to harbor mutations related to a spectrum of conditions phenotypically related to MFS and many mutations will have to be accumulated before genot...