FBN1 encodes the gene for fibrillin-1, a structural macromolecule that polymerizes into
microfibrils. Fibrillin microfibrils are morphologically distinctive fibrils, present in all …

Vascular Ehlers Danlos syndrome (vEDS) is an uncommon genetic disorders characterized
by arterial aneurysm, dissection and rupture, bowel rupture, and rupture of the gravid uterus …

Three international nosologies have been proposed for the diagnosis of Marfan syndrome
(MFS): the Berlin nosology in 1988; the Ghent nosology in 1996 (Ghent-1); and the revised …

Force. The finalized document is approved by the CPG for publication in the European Heart
Journal. The Guidelines were developed after careful consideration of the scientific and …

We report heterozygous mutations in the genes encoding either type I or type II transforming
growth factor β receptor in ten families with a newly described human phenotype that …

Background The Loeys–Dietz syndrome is a recently described autosomal dominant aortic-
aneurysm syndrome with widespread systemic involvement. The disease is characterized by …

The diagnosis of Marfan syndrome (MFS) relies on defined clinical criteria (Ghent nosology),
outlined by international expert opinion to facilitate accurate recognition of this genetic …

The Ehlers–Danlos syndromes (EDS) are a clinically and genetically heterogeneous group
of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin …

Mutations in the fibrillin-1 (FBN1) gene cause Marfan syndrome (MFS) and have been
associated with a wide range of overlapping phenotypes. Clinical care is complicated by …

Background Aortic-root dissection is the leading cause of death in Marfan's syndrome.
Studies suggest that with regard to slowing aortic-root enlargement, losartan may be more …