Thoracic aortic aneurysms that progress to acute aortic dissections are often fatal. Thoracic
aneurysms have been managed with treatment with β-adrenergic blocking agents (β …

The fibrillins, large extracellular matrix molecules, are polymerized to form “microfibrils.” The
fibrillin microfibril scaffold is populated by microfibril-associated proteins and by growth …

Gene mutations that lead to decreased contraction of vascular smooth-muscle cells (SMCs)
can cause inherited thoracic aortic aneurysms and dissections. Exome sequencing of distant …

Noonan syndrome (NS) is a relatively common genetic disorder, characterized by typical
facies, short stature, developmental delay, and cardiac abnormalities. Known causative …

Background: Mural cells in ascending aortic aneurysms undergo phenotypic changes that
promote extracellular matrix destruction and structural weakening. To explore this biology …

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

Myopia is an extremely common eye disorder but the pathogenesis of its isolated form,
which accounts for the overwhelming majority of cases, remains poorly understood. There is …

Acute aortic dissections are a preventable cause of sudden death if individuals at risk are
identified and surgically repaired in a non-emergency setting. Although mutations in single …

Up to 20% of individuals who have thoracic aortic aneurysms or acute aortic dissections but
who do not have syndromic features have a family history of thoracic aortic disease …

The major diseases affecting the thoracic aorta are aneurysms and acute dissections, and
pathogenic variants in 11 genes are confirmed to lead to heritable thoracic aortic disease …