Structural genomic variants in thoracic aortic disease.
Curr Opin Cardiol
; 38(3): 157-161, 2023 05 01.
Article
en En
| MEDLINE
| ID: mdl-36795406
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 cause for Marfan syndrome.SUMMARY:
During the past 15âyears, the knowledge on the role of copy number variants as a cause for aortopathy has grown significantly, which is partially due to the development of novel technologies including next-generation sequencing. Although copy number variants are now often investigated on a routine basis in diagnostic laboratories, more complex structural variants such as inversions, which require the use of whole genome sequencing, are still relatively new to the field of thoracic aortic and aortic valve disease.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Enfermedades de la Aorta
/
Enfermedad de la Válvula Aórtica Bicúspide
Tipo de estudio:
Prognostic_studies
Límite:
Humans
Idioma:
En
Revista:
Curr Opin Cardiol
Asunto de la revista:
CARDIOLOGIA
Año:
2023
Tipo del documento:
Article
País de afiliación:
Bélgica