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10 Μαρ 2015 · ACTA2 mutations are associated with high risk of presentation with an acute aortic dissection. The lifetime risk for an aortic event is only 76%, suggesting that additional environmental or genetic factors play a role in expression of aortic disease in individuals with ACTA2 mutations. Introduction.
- Acta2
OMIM No. 154700) or a related connective tissue disorder....
- Circulation
Background— TGFBR2 mutations were recognized recently among...
- Acta2
21 Νοε 2019 · This consensus statement summarizes our recommendations on diagnosis, monitoring, treatment, pregnancy, genetic counselling and testing in patients with ACTA2-related vasculopathy. However, there is a clear need for additional prospective multicenter studies to further define proper guidelines.
Many mutations in the ACTA2 gene have been found to date in patients with familial thoracic aortic aneurysms (dilatations and tears of the largest vessel in the body). Only few of them, and primarily those that change the amino acid Arginine 179 (Arg179) are associated with a more extensive form of the disease that affects the whole body.
aneurysms and dissections is an autosomal dominant disorder that is characterized by dilation or dissection of the thoracic aorta in families who do not have Marfan syndrome (MFS; OMIM No. 154700) or a related connective tissue disorder. ACTA2 (actin, -2, smooth muscle, aorta; OMIM *102620) α
Treatment: There are currently no standard indications for neurosurgical revascularization in these patients. This may be due in part to the high risk of postoperative stroke as well as the scarcity of reported cases.
15 Δεκ 2022 · The first interventional treatment included stenting of the superior mesenteric artery, stenting of the abdominal aorta, and balloon dilatation of the left iliac artery.
5 Φεβ 2024 · Missense variants in the ACTA2 gene can cause inherited thoracic aortic diseases with characteristic symptoms, such as dysfunction of smooth muscle cells in the lungs, brain vessels, intestines,...
