Human Genetics of Semilunar Valve and Aortic Arch Anomalies.
Adv Exp Med Biol
; 1441: 761-775, 2024.
Article
in En
| MEDLINE
| ID: mdl-38884747
ABSTRACT
Lesions of the semilunar valve and the aortic arch can occur either in isolation or as part of well-described clinical syndromes. The polygenic cause of calcific aortic valve disease will be discussed including the key role of NOTCH1 mutations. In addition, the complex trait of bicuspid aortic valve disease will be outlined, both in sporadic/familial cases and in the context of associated syndromes, such as Alagille, Williams, and Kabuki syndromes. Aortic arch abnormalities particularly coarctation of the aorta and interrupted aortic arch, including their association with syndromes such as Turner and 22q11 deletion, respectively, are also discussed. Finally, the genetic basis of congenital pulmonary valve stenosis is summarized, with particular note to Ras-/mitogen-activated protein kinase (Ras/MAPK) pathway syndromes and other less common associations, such as Holt-Oram syndrome.
Key words
22q11 deletion syndrome; Alagille syndrome; Aortic arch; Aortic coarctation; Aortic valve stenosis; BAV; BMP; Bicuspid aortic valve; CHD7; Costello syndrome; DiGeorge syndrome; ELN; Elastin; GATA4; HoltOram syndrome; IAA; Interrupted aortic arch; JAG1; Kabuki syndrome; MLL2; NKX25; NOTCH1; Noonan syndrome; PTPN11; Pulmonary stenosis; RasMAPK pathway; SMAD; SOS1; Semilunar valve; Supravalvar aortic stenosis; TBX1; TBX5; Turner syndrome; Vascular smooth muscle cells; Velocardiofacial syndrome; Williams syndrome
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Aorta, Thoracic
/
Aortic Valve
Limits:
Humans
Language:
En
Journal:
Adv Exp Med Biol
Year:
2024
Document type:
Article
Affiliation country:
Reino Unido