Familial acute aortic dissection associated with a novel ACTA2 germline variant.
ACTA2 mutation
Aortic dissection
Cardiac surgery
Echocardiography, Computer tomography
Human genetics
Pathology
Journal
Virchows Archiv : an international journal of pathology
ISSN: 1432-2307
Titre abrégé: Virchows Arch
Pays: Germany
ID NLM: 9423843
Informations de publication
Date de publication:
Feb 2023
Feb 2023
Historique:
received:
27
01
2022
accepted:
20
06
2022
revised:
17
06
2022
pubmed:
28
7
2022
medline:
18
2
2023
entrez:
27
7
2022
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 35896809
doi: 10.1007/s00428-022-03366-9
pii: 10.1007/s00428-022-03366-9
pmc: PMC9931827
doi:
Substances chimiques
ACTA2 protein, human
0
Actins
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
437-443Informations de copyright
© 2022. The Author(s).
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