Cargando…

Genes Associated with Thoracic Aortic Aneurysm and Dissection: 2018 Update and Clinical Implications

Thoracic aortic aneurysms, with an estimated prevalence in the general population of 1%, are potentially lethal, via rupture or dissection. Over the prior two decades, there has been an exponential increase in our understanding of the genetics of thoracic aortic aneurysm and/or dissection (TAAD). To...

Descripción completa

Detalles Bibliográficos
Autores principales: Brownstein, Adam J., Kostiuk, Valentyna, Ziganshin, Bulat A., Zafar, Mohammad A., Kuivaniemi, Helena, Body, Simon C., Bale, Allen E., Elefteriades, John A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Thieme Medical Publishers 2018
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6136681/
https://www.ncbi.nlm.nih.gov/pubmed/30079932
http://dx.doi.org/10.1055/s-0038-1639612
Descripción
Sumario:Thoracic aortic aneurysms, with an estimated prevalence in the general population of 1%, are potentially lethal, via rupture or dissection. Over the prior two decades, there has been an exponential increase in our understanding of the genetics of thoracic aortic aneurysm and/or dissection (TAAD). To date, 30 genes have been shown to be associated with the development of TAAD and ∼30% of individuals with nonsyndromic familial TAAD have a pathogenic mutation in one of these genes. This review represents the authors' yearly update summarizing the genes associated with TAAD, including implications for the surgical treatment of TAAD. Molecular genetics will continue to revolutionize the approach to patients afflicted with this devastating disease, permitting the application of genetically personalized aortic care.