Double-Hit Mutations in Bicuspid Aortic Valve and Blunt Traumatic Acute Aortic Dissection

Kushtrim Disha; Solveig Schulz; Marco Mierzwa; Tamer Owais; Evaldas Girdauskas; Thomas Kuntze

doi:10.1016/j.athoracsur.2020.04.121

Double-Hit Mutations in Bicuspid Aortic Valve and Blunt Traumatic Acute Aortic Dissection

Ann Thorac Surg. 2021 Jan;111(1):e5-e6. doi: 10.1016/j.athoracsur.2020.04.121. Epub 2020 Jun 13.

Authors

Kushtrim Disha¹, Solveig Schulz², Marco Mierzwa³, Tamer Owais³, Evaldas Girdauskas⁴, Thomas Kuntze³

Affiliations

¹ Department of Cardiac Surgery, Central Hospital Bad Berka, Bad Berka, Germany. Electronic address: [email protected].
² Institute of Human Genetics and Anthropology, Jena University Hospital, Jena, Germany.
³ Department of Cardiac Surgery, Central Hospital Bad Berka, Bad Berka, Germany.
⁴ Department of Cardiovascular Surgery, University Heart Center Hamburg, Hamburg, Germany.

PMID: 32544455
DOI: 10.1016/j.athoracsur.2020.04.121

Abstract

We report on a young patient with a bicuspid aortic valve operated on for type A acute aortic dissection because of a blunt thoracic trauma. Aortic root replacement and ascending aortic and total arch repair together with the postoperative course were uneventful. Multigenerational genetic analyses revealed mutations in the NOTCH1 and ACTA2 genes in the patient and his father. The screening of his parents and children revealed no bicuspid aortic valve or aortic root dilation. This exceptionally rare case of double-hit mutations and the presence of blunt trauma reveals the complex etiology of aortic dissection in patients with a bicuspid aortic valve.

Publication types

Case Reports

MeSH terms

Acute Disease
Adult
Aortic Dissection / complications*
Bicuspid Aortic Valve Disease / complications*
Bicuspid Aortic Valve Disease / genetics*
Humans
Male
Mutation*
Thoracic Injuries / complications*
Wounds, Nonpenetrating / complications*