Gene Mutations and Familial Thoracic Aortic Aneurysms

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...

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...

Thoracic Aortic Aneurysms

The true incidence and mortality rate of TAAs is not known. A population-based study reported an incidence of 5.9 new aneurysms per 100,000 person-years in a Midwestern community over a 30-year period with median ages of 65 years for men and 77 years for women. 51% of aneurysms were in the ascending aorta, 11% in the arch and 38% in the descending thoracic aorta. Prevalence may be at least 3-4 ...

Thoracic and abdominal aortic aneurysms.

Aneurysms of the aorta are at times evaluated and treated by physicians from a number of specialties. Indeed, whereas cardiac surgeons operate on the ascending aorta and arch and vascular surgeons manage abdominal aortic aneurysms, at present the responsibility often falls to cardiologists to oversee the medical care of patients with aortic disease of all types. However, although formally train...