Contribution of NOTCH1 genetic variants to bicuspid aortic valve and other congenital lesions.

Radoslaw Marek DebiecStephen E HambyPeter D JonesKassem SafwanMichael SosinSimon Lee HetheringtonDavid SprigingsDavid SharmanKelvin LeePegah SalahshouriNigel WheeldonAndrew ChukwuemekaVasiliki BoutzioukaMohamed ElaminSue CoolmanManish AsianiShireen KharodiaGregory J SkinnerNilesh J SamaniTom R WebbAidan P Bolger

Published in: Heart (British Cardiac Society) (2022)

genetic variants explain 2% of familial and <0.1% of sporadic BAV disease and are more likely to associate with tetralogy of Fallot and hypoplastic left heart.

Keyphrases

aortic valve
aortic stenosis
transcatheter aortic valve replacement
aortic valve replacement
transcatheter aortic valve implantation
late onset
early onset
heart failure
cell proliferation
amyotrophic lateral sclerosis
atrial fibrillation
ejection fraction
coronary artery disease