Purpose: Heterozygous pathogenic/likely pathogenic (P/LP) variants in the ACTA2 gene
confer a high risk for thoracic aortic aneurysms and aortic dissections. This retrospective …

Purpose Heterozygous pathogenic/likely pathogenic (P/LP) variants in the ACTA2 gene
confer a high risk for thoracic aortic aneurysms and aortic dissections. This retrospective …

Background—ACTA2 mutations are the major cause of familial thoracic aortic aneurysms
and dissections. We sought to characterize these aortic diseases in a large case series of …

Disease-causing heterozygous variants in the ACTA2 gene cause an autosomal dominant
heritable thoracic aortic disease (HTAD) with thoracic aortic aneurysm and dissection as …

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 …

Background: ACTA2 mutation for Familial Aortic Disease has been increasingly recognized.
We describe a highly penetrant variant (R118Q) in a family with aortic disease. Case Report …

Background The role of ACTA2 mutations in Familial Aortic Disease has been increasingly
recognized. We describe a highly penetrant variant (R118Q) in a family with aortic disease …

In the article “Expanding the genetic and phenotypic spectrum of ACTA2-related
vasculopathies in a Dutch cohort”(Genet Med 2022; 24: 2112-2122), the following updates …

Mutations in the gene encoding smooth muscle cell alpha actin (ACTA2) have recently been
shown to cause familial thoracic aortic aneurysms leading to type A dissections (TAAD) and …

Mutations of the ACTA2 gene, which encodes the smooth muscle cell-specific isoform of α-
actin protein, have recently been found to be among the most common genetic …