Extending the spectrum in aortopathy: stenosis to aneurysm.
Curr Opin Genet Dev
; 76: 101962, 2022 10.
Article
em En
| MEDLINE
| ID: mdl-35917598
ABSTRACT
The size of the aorta varies in the healthy population and is influenced by a series of mostly common and lower-impact genomic variants. Rare, high-impact variants driving Mendelian diseases of stenosis and aneurysm extend the limits of aortic size out of the typical range. Pathology at both ends of the spectrum is governed by overlapping pathways and processes, such as those affecting structure, integrity, and function of the aorta. As such, aortopathies across the full spectrum from stenosis to aneurysm are likely modified by a similar constellation of common and rarer genetic variants in a directional, weighted, and context-dependent manner. Here, we discuss the role of modifiers in aortic disease by presenting an example of two opposing rare diseases and highlight the need to consider the influence of background genome variation when considering disease outcomes.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doença da Válvula Aórtica Bicúspide
/
Doenças das Valvas Cardíacas
/
Aneurisma
Limite:
Humans
Idioma:
En
Ano de publicação:
2022
Tipo de documento:
Article