Loeys-Dietz Syndrome Associated With a Higher Risk of Aortic Aneurysm

Aortic aneurysm may be a risk factor for those with Loeys-Dietz syndrome. LDS results in the presence of missense mutations within either of the genes encoding receptors for TGF-β. LDS-associated mutations are predicted to reduce TGF-β signaling; however, aortic tissue samples from LDS patients indicate that TGF-β signaling may be enhanced.

In this issue of the Journal of Clinical Investigation, Harry Dietz and colleagues at Johns Hopkins School of Medicine developed a mouse model of LDS, in which transgenic animals expressing Tgfbr1 or Tgfbr2 with LDS-associated mutations recapitulated human phenotypes. Using this model, the authors determined that even though the mutated TGF-β receptors were functionally defective, there was evidence of increased TGF-β signaling as indicated by elevated Smad2 phosphorylation. Furthermore, development of aortic aneurysms in these mice was ameliorated by treatment with an Angiotensin II type 1 (AT1) receptor antagonist. In a companion commentary, Alan Daughtery and colleagues at the University of Kentucky discuss the therapeutic implications of this study on the use of AT1 receptor agonists to treat LDS-associated aneurism.

Study Finds Minimally Invasive Surgery Works Well for Abdominal Aortic Aneurysms
A minimally invasive procedure used for abdominal aortic aneurysms has a low rate of complications, even in high-risk patients such as those with kidney, heart or lung problems.

Source-Eurekalert

Long-Term Survival Chances of Abdominal Aortic Aneurysm Patients Same With Both Less-Invasive and Open Surgeries
A new study reveals that the survival chances of abdominal aortic aneurysm patients after surgery is similar regardless of whether the patient undergoes a less-invasive surgery or “open” operations.

Frequency of Surveillance Scans for Small Abdominal Aortic Aneurysms can be Reduced
In current abdominal aortic aneurysm (AAA) screening programs, surveillance intervals of several years may be clinically acceptable for the majority of patients with small AAA.