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10 Μαρ 2015 · Individuals with ACTA2 mutations present with both type A and type B aortic dissections at significantly younger ages than individuals enrolled in the International Registry of Acute Aortic Dissection (IRAD) study 22 and are likely to report a family history of thoracic aortic disease.
- Acta2
aneurysms and dissections is an autosomal dominant disorder...
- Circulation
Background— TGFBR2 mutations were recognized recently among...
- Acta2
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.
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.
Here, we describe the aortic diseases in a large case series of individuals with ACTA2mutations and provide probability estimates for aortic events, describe the clinical presentation of ACTA2-related aortic disease and identify the distinctive challenges in the diagnosis and management of these indi- viduals.
More than 30 ACTA2 gene mutations have been identified in people with familial thoracic aortic aneurysm and dissection (familial TAAD). This disorder involves problems with the aorta, which is the large blood vessel that distributes blood from the heart to the rest of the body.
Research on α-SMA and ACTA2 mutations is imperative for understanding the pathogenesis and determining the pertinent management strategies of vasculopathies. Further in-depth studies of causative genes of ACTA2 mutations may largely facilitate the diagnosis and treatment of the underlying disorders.
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. Footnotes.
