Familial acute aortic dissection associated with a novel ACTA2 germline variant

Strecker T, Wiesmueller F, Rudnik-Schoeneborn S, Hoyer J, Wiesmann da Silva Reis A, Weyand M, Agaimy A (2022)

Publication Type: Journal article

Publication year: 2022

Journal

DOI: 10.1007/s00428-022-03366-9

Abstract

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. Exploration of the genetic background in suspected familial cases and determination of the exact etiology are mandatory for management and establishing appropriate follow-up strategies due to the risk of fatal recurrences. Herein, we present a 21-year-old male with a familial acute aortic dissection associated with novel ACTA2 germline variant and discuss the management and surveillance considerations.

Authors with CRIS profile

Involved external institutions

Harvard University United States (USA) (US) Leopold-Franzens-Universität Innsbruck / University of Innsbruck Austria (AT)

How to cite

APA:

Strecker, T., Wiesmueller, F., Rudnik-Schoeneborn, S., Hoyer, J., Wiesmann da Silva Reis, A., Weyand, M., & Agaimy, A. (2022). Familial acute aortic dissection associated with a novel ACTA2 germline variant. Virchows Archiv. https://doi.org/10.1007/s00428-022-03366-9

MLA:

Strecker, Thomas, et al. "Familial acute aortic dissection associated with a novel ACTA2 germline variant." Virchows Archiv (2022).

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