Αποτελέσματα Αναζήτησης
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
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.
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.
ACTA2-related cerebrovascular disease (ARCD) is a newly defined disorder resulting from a mutation in the ACTA2 gene, which leads to diffuse vascular smooth muscle dysfunction and a unique cerebral arteriopathy. This characteristic cerebral arteriopathy leads to ischemic events in younger individuals.
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.
16 Οκτ 2021 · PMCID: PMC8546807. DOI: 10.12998/wjcc.v9.i29.8789. Abstract. Background: ACTA2 gene is a specific gene that encodes actin α2. Multisystem smooth muscle dysfunction syndrome (MSMDS) is a multisystem disease characterized by aortic and cerebrovascular lesions caused by ACTA2 gene mutations.
5 Φεβ 2024 · Genetic testing using a hybridization capture-based gene panel identified a heterozygous variant of the ACTA2 gene (c.442 G > A), generating p.Gly148Arg (G148R). The missense variant G148R...
