The founding member of the lipoprotein receptor family, low-density lipoprotein receptor
(LDLR) plays a major role in the atherogenesis through the receptor-mediated endocytosis …

Aortic aneurysm is a life-threatening disease due to the risk of aortic rupture. The only
curative treatment available relies on surgical approaches; drug-based therapies are …

Background: Marfan syndrome (MFS) is an autosomal dominant disorder of the connective
tissue caused by mutations in the FBN1 (fibrillin-1) gene encoding a large glycoprotein in …

Marfan syndrome (MFS) is a rare, autosomal‐dominant, multisystem disorder, presenting
with skeletal, ocular, skin, and cardiovascular symptoms. Significant clinical overlap with …

Aneurysms are common in the abdominal and thoracic regions of the aorta. While generally
asymptomatic, progression of aneurysms is associated with the devastating consequences …

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 …

Objective—Marfan's syndrome is characterized by the formation of ascending aortic
aneurysms resulting from altered assembly of extracellular matrix microfibrils and chronic …

Background: Bicuspid aortic valve (BAV) is the most common congenital cardiovascular
disease in general population and is frequently associated with the development of thoracic …

Thoracic aortic aneurysm and dissection (TAAD) is an autosomal-dominant disorder with
major life-threatening complications. The disease displays great genetic heterogeneity with …

The aorta is the largest artery in the body, delivering oxygenated blood from the left ventricle
to all organs. Dissection of the aorta is a lethal condition caused by a tear in the intimal layer …