Mutations in Transforming Growth Factor-β Receptor Type II Cause Familial Thoracic Aortic Aneurysms and Dissections

Transforming growth factor β2 mutations and familial thoracic aortic aneurysms.

Familial thoracic aortic aneurysms and dissections.

Rupture of thoracic aortic aneurysms and/or dissections is not rare, occurring in approximately 0.6% of all medicolegal autopsies. Most forensic pathologists are aware of the association between thoracic aortic aneurysms/dissections and trauma, atherosclerosis, inflammation and Marfan syndrome. In this report, we discuss a familial form of thoracic aortic dilatation and/or dissection that is di...

The Pathogenic Transforming Growth Factor-β Overdrive Hypothesis in Aortic Aneurysms and Dissections

Syndromic thoracic aortic aneurysms and dissections (TAADs) develop in patients with connective tissue disorders because of genetic mutations that affect structural components of the extracellular matrix and the cell contractile machinery. Early pathogenic hypotheses attributed the aortopathy to structural failure of the aortic tissue. Over 14 years ago, Neptune et al, Habashi et al, and Lindsa...

LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections.

RATIONALE Mutations in several genes have been identified that are responsible for 25% of families with familial thoracic aortic aneurysms and dissections. However, the causative gene remains unknown in 75% of families. OBJECTIVES To identify the causative mutation in families with autosomal dominant inheritance of thoracic aortic aneurysms and dissections. METHODS AND RESULTS Exome sequenc...

Transforming Growth Factor‐β in Thoracic Aortic Aneurysms: Good, Bad, or Irrelevant?

M arfan syndrome is a multisystem disorder, but its most devastating manifestations are aortic aneurysms and dissection. This syndrome results from mutations in FBN1, which encodes fibrillin-1, a microfibrillar protein that decorates the surface of elastin fibers. Over 100 known mutations in FBN1 cause Marfan syndrome, resulting in a wide variance of clinical presentations in affected individua...