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Article

Familial acute aortic dissection associated with a novel ACTA2 germline variant.

Virchows Archiv : an international journal of pathology - 1 Feb 2023

Strecker Thomas, Wiesmueller Felix, Rudnik-Schöneborn Sabine, Hoyer Juliane, Reis André, Weyand Michael, Agaimy Abbas

Abstract excerpt

Aortic dissection is a life-threatening cardiovascular disease. Hereditary disorders are responsible for a small percentage of cases. Nonetheless, it is important to identify genetic causes, as they are often autosomal dominantly inherited and are of life-saving importance if we can identify persons at risk. Mutations of the ACTA2 gene are the most common cause of non-syndromic familial aortic disease....

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Identifiers

PMID: 35896809
DOI: 10.1007/s00428-022-03366-9
PMCID: PMC9931827

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