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10 Μαρ 2015 · Among individuals with acute thoracic aortic dissections, the most common symptom was pain in 84% of individuals but ≤20% of individuals complained of various other symptoms besides pain (Table II in the Data Supplement).
- Acta2
OMIM No. 154700) or a related connective tissue disorder....
- Circulation
Background— TGFBR2 mutations were recognized recently among...
- Acta2
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.
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.
The three hallmark signs of MSMDS include Patent Ductus Arteriosus (PDA) or Aortopulmonary (APW), Congenital Mydriasis, and White Matter Changes. When two of these three signs are present, genetic testing should be performed. In addition, pulmonary arterial hypertension (PAH), chronic lung disease, vascular disease and aortic dissection, white ...
21 Νοε 2019 · The ACTA2 gene encodes for smooth muscle specific α-actin, a critical component of the contractile apparatus of the vascular smooth muscle cell. Pathogenic variants in the ACTA2 gene are the most frequently encountered genetic cause of non-syndromic hereditary thoracic aortic disease (HTAD).
Mutations in the ACTA2 gene lead to abnormal production of alpha smooth muscle actin isotype 2, a protein that forms part of the scaffolding of the contractile (shrinking) system of smooth muscle cells.
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,...
