Structural genomic variants in thoracic aortic disease.

ABSTRACT:

Purpose of review

Structural genomic variants have emerged as a relevant cause for several disorders, including intellectual disability, neuropsychiatric disorders, cancer and congenital heart disease. In this review, we will discuss the current knowledge about the involvement of structural genomic variants and, in particular, copy number variants in the development of thoracic aortic and aortic valve disease.

Recent findings

There is a growing interest in the identification of structural variants in aortopathy. Copy number variants identified in thoracic aortic aneurysms and dissections, bicuspid aortic valve related aortopathy, Williams-Beuren syndrome and Turner syndrome are discussed in detail. Most recently, the first inversion disrupting FBN1 has been reported as a cau

SUBMITTER: Meester JAN 

PROVIDER: S-EPMC10090287 | biostudies-literature | 2023 May

REPOSITORIES: biostudies-literature