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10 Μαρ 2015 · To characterize the first aortic event in individuals with ACTA2 mutations, we analyzed 70 available clinical records for presenting symptoms, medical histories before event, aortic disease, surgical approaches, and outcomes (summarized in Table II in the Data Supplement). This subgroup consisted of 10 elective ascending aortic aneurysm repairs ...
- Acta2
aneurysms and dissections is an autosomal dominant 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.
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).
WHAT ARE THE SIGNS & SYMPTOMS. OF MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME? Figure 3. Organ Dysfunctions Reported on Patients with MSMDS. The three hallmark signs of MSMDS include Patent Ductus Arteriosus (PDA) or Aortopulmonary (APW), Congenital Mydriasis, and White Matter Changes.
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.
29 Μαΐ 2024 · Explore the implications of ACTA2 gene mutations in vascular diseases, including thoracic aortic aneurysms, moyamoya disease, and patent ductus arteriosus. Learn about clinical manifestations, diagnostic approaches, and management strategies for affected individuals.
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...
