Discovery of new genetic mutation in aortic disease allows better diagnosis and brings personalised medicine a step closer

Thoracic aortic aneurysm and dissection (TAAD), an enlargement or tearing of the walls of the aorta in the chest, is, together with abdominal aortic aneurysms, responsible for about 2% of all deaths in Western countries. The aorta is the largest artery in the body, and carries blood from the heart. About one out of every five patients with TAAD has a family member with the same disorder, therefore indicating a genetic cause.  However, the relevant genetic mutations discovered so far only explain about 30% of all cases. Through the study of a large family with TAAD features, an international team of genetic researchers have now discovered that a mutation in the TGFB3 gene is also responsible for the condition.

from Today's Healthcare News -- ScienceDaily http://ift.tt/1MCq23v