Human Hereditary Cardiomyopathy Shares a Genetic Substrate With Bicuspid Aortic Valve.
Marcos Siguero-ÁlvarezAlejandro Salguero-JiménezJoaquím Grego-BessaJorge de la BarreraDonal MacGroganBelén PradosFernando Sánchez-SáezRebeca Piñeiro-SabarísNatalia Felipe-MedinaCarlos TorrojaManuel J Jose GómezMaría Sabater-MolinaRubén EscribáIvonne Richaud-PatinOlalla Iglesias-GarcíaMauro SbroggioSergio CallejasDeclan P O'ReganKathryn Anne McGurkAna DopazoGiovanna GiovinazzoFrancesco LavarraLorenzo MonserratJosé María Pérez-PomaresFátima Sánchez-CaboAlberto M PendasÁngel RayaJuan R Gimeno-BlanesJosé Luis de la PompaPublished in: Circulation (2022)
These findings reveal a shared genetic substrate underlying LVNC and bicuspid aortic valve in which MIB1-NOTCH variants plays a crucial role in heterozygous combination with cosegregating genetic modifiers.
Keyphrases
- aortic valve
- aortic stenosis
- transcatheter aortic valve replacement
- aortic valve replacement
- transcatheter aortic valve implantation
- genome wide
- copy number
- endothelial cells
- heart failure
- early onset
- cell proliferation
- dna methylation
- single cell
- gene expression
- induced pluripotent stem cells
- atrial fibrillation
- left ventricular
- pluripotent stem cells
- structural basis
- amino acid