A highly penetrant ACTA2 mutation of thoracic aortic disease

BACKGROUND: The role of ACTA2 mutations in Familial Aortic Disease has been increasingly recognized. We describe a highly penetrant variant (R118Q) in a family with aortic disease. CASE REPORT: A patient presented to us for elective repair of an ascending aortic aneurysm with a family history of his...

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Detalles Bibliográficos
Autores principales: Bobba, Christopher M., Azarrafiy, Ryan, Spratt, John R., Hendrickson, Jill, Martin, Tomas D., Arnaoutakis, George J., Jeng, Eric I., Beaver, Thomas M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10694883/
https://www.ncbi.nlm.nih.gov/pubmed/38044429
http://dx.doi.org/10.1186/s13019-023-02420-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10694883/
https://www.ncbi.nlm.nih.gov/pubmed/38044429
http://dx.doi.org/10.1186/s13019-023-02420-0

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