2024 Acta2 mutation radiology

Acta2 mutation radiology

Author: tdbu

August undefined, 2024

WebDec 1, 2024 · Smooth muscle alpha-2 actin ( ACTA2) mutations are associated with diffuse smooth-muscle dysfunction syndrome and produce distinct imaging features. Clinical manifestations include intrathoracic large-vessel disease, nonreactive mydriasis, bladder hypotonia, and intestinal dysmotility. http://www.ajnr.org/content/early/2024/12/02/ajnr.A7364

Expanding the Distinctive Neuroimaging Phenotype of …

WebSep 27, 2024 · Axial T2WI ( F) at the level of the proximal segment of the posterior cerebral arteries (pontomesencephalic junction) shows marked compression of the brain stem at that level related to straightening of the arteries ( white arrows) and radial gyration of the … WebDec 4, 2015 · ACTA2 mutations predispose to development of aortic aneurysms and early onset coronary and cerebrovascular disease. Based on arteriographic findings, a distinct cerebrovascular disease has been proposed for ACTA2 heterozygous patients carrying the R179H mutation. puritan toys

Cerebral arteriopathy associated with Arg179His ACTA2 mutation

WebJul 24, 2012 · Mutations in the ACTA2 gene lead to diffuse and diverse vascular diseases; the Arg179His mutation is associated with an early onset severe phenotype due to global smooth muscle dysfunction. Cerebrovascular disease associated with ACTA2 mutations has been likened to moyamoya disease, but appears to have distinctive features. This … WebNov 11, 2024 · Rationale: The most common mutation in ACTA2 is p.Arg149Cys, which predisposes individuals to either thoracic aortic disease or premature onset coronary artery disease but rarely both diseases. Objective: We sought to identify the molecular mechanisms dictating whether or not an individual with ACTA2 p.Arg149Cys has … WebACTA2 mutation results in multisystemic smooth muscle dysfunction syndrome, which can result in cerebral arteriopathy and present as a paediatric stroke. An important distinguishing feature from moyamoya vasculopathy is the lack of … puritaner synonym

Expanding the Distinctive Neuroimaging Phenotype of ACTA2 Mutations ...

ACTA2 leukovasculopathy: A rare pediatric white matter disorder

WebMar 10, 2015 · ACTA2 mutations are the major cause of an inherited predisposition of thoracic aortic aneurysms and dissections, responsible for disease in ≈20% of these families. Analysis of clinical data collected from 277 individuals with ACTA2 mutations showed that 48% of the cohort had aortic events (defined as aneurysm repair or … WebApr 12, 2024 · A specific mutation (Arg179) of the ACTA2 gene has previously been described to cause a syndrome of multisystemic smooth muscle dysfunction with an extremely characteristic cerebrovascular appearance. 1 Accurate neuroimaging … puritan views on lentWebJan 29, 2024 · Multisystemic smooth muscle dysfunction syndrome is a rare genetic disorder caused by mutations in the ACTA2 gene, resulting in intracranial steno-occlusive disease and aortic dissection or aneurysm, among other complications. Epidemiology Most cases are diagnosed in childhood 1. Clinical presentation puritan turtlenecks

"WebAlpha actin 2 (ACTA2) is an alpha-actin isoform that functions as part of the contractile apparatus of vascular smooth muscle cells, regulating blood pressure and flow. 1 Patients with the ACTA2 mutation commonly suffer thoracic aortic aneurisms, as well as medium … " - Acta2 mutation radiology

Acta2 mutation radiology

ACTA2 leukovasculopathy: A rare pediatric white matter disorder

WebOct 16, 2024 · 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. … WebDec 4, 2024 · Mutations in ACTA2 are the most common genetic cause of thoracic aortic aneurysm, and are also the cause of other disorders, including Moyamoya disease, coronary artery disease and stroke as well as Multisystemic Smooth Muscle Dysfunction Syndrome.

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WebArg179His or R179H. This mutation results in impaired contraction of smooth muscles in many organs, leading to the signs and symptoms of multisystemic smooth muscle dysfunction syndrome. It is unclear why this ACTA2 gene mutation has effects on smooth muscles throughout the body while others affect only the aorta. Other Names for This … http://www.ajnr.org/content/ajnr/39/11/2126.full.pdf

WebMar 10, 2015 · ACTA2 (actin, α-2, smooth muscle, aorta; OMIM *102620) is the most frequently mutated gene causing familial thoracic aortic aneurysms and dissection and is responsible for 12% to 21% of familial thoracic aortic aneurysms and dissection cases. 3 – 6 ACTA2 encodes the smooth muscle–specific isoform of α-actin, which polymerizes to … WebNational Center for Biotechnology Information

WebDescription Familial thoracic aortic aneurysm and dissection (familial TAAD) involves problems with the aorta, which is the large blood vessel that distributes blood from the heart to the rest of the body. Familial TAAD affects the upper part of the aorta, near the heart. Web7 Department of Radiology (M.G.), University Hospital of North Staffordshire National Health Service Trust, Stoke-on-Trent, UK. 8 Department of Radiology and Diagnostic Imaging (A.J.B.), University of California, San Francisco, San Francisco, California.

Webgiographic findings previously described.2 Clinically acquired, anonymized brain and cerebrovascular imaging studies from 13 unrelated patients with heterozygous Arg179His mutations in ACTA2 were retrospectively included from 4 pediatric hospitals and 3 general university hospitals (University Hospital of North

WebMore 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 … puritan viewsWebNational Center for Biotechnology Information puritanisme synonymeWebNov 29, 2013 · ACTA2 mutation was initially identified in patients with familial thoracic aortic aneurysms and aortic dissections. 1 In addition to the thoracic aorta and cerebral vessels, ACTA2 mutation may also result in early onset coronary artery disease. 2 6 8 These patients commonly have PDA, congenital mydriasis and urinary bladder and … puritanism valuesWebFeb 1, 2011 · To date, the genes identified in familial TAAD have been primarily those associated with maintenance of smooth muscle contractile function ( ACTA2, MYH11, TGFBR1 and TGFBR2 [non–Loeys-Dietz syndrome], MYLK ), with autosomal dominant … puritan vitamins and essential oilsWebACTA2 mutations have recently been shown to cause a multisystem smooth muscle dysfunction syndrome that may result in pediatric stroke. We report a case of ACTA2 mutation in a 3-year-old girl presenting with acute ischemic stroke and provide high resolution imaging of the cerebral arteries demonstrating novel findings of multiple tiny … puritan values puritanismus erklärungWebLondon, UK; Radiology Department (C.A.A.), Hospital Das Clinicas, Sao Paulo, Brazil; Department of Diagnostic Imaging (C.R.), Hospital for Sick Children, Toronto, On-tario, Canada; Department of Radiology (G.E.I.), Seattle Children’s Hospital, Univer-sity of … puritanism