Article
The natural history of a family with aortic dissection associated with a novel ACTA2 variant.
Annals of vascular surgery - 1 Nov 2021
Delsart Pascal, Vanlerberghe Clémence, Juthier Francis, Sobocinski Jonathan, Domanski Olivia, Longere Benjamin, Hanna Nadine, Arnaud Pauline, Marsili Luisa
Abstract excerpt
Disease-causing heterozygous variants in the ACTA2 gene cause an autosomal dominant heritable thoracic aortic disease (HTAD) with thoracic aortic aneurysm and dissection as main phenotype, and occasional extravascular abnormalities such as livedo reticularis. ACTA2-HTAD accounts for an important part of non-syndromic HTAD, with detection rates varying between 1.5-21% according to different studies. A consensus...
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