Novel loss of function mutation in NOTCH1 in a family with bicuspid aortic valve, ventricular septal defect, thoracic aortic aneurysm, and aortic valve stenosis.
Radoslaw Marek DebiecStephen E HambyPeter D JonesSue CoolmanManish AsianiShireen KharodiaGregory J SkinnerNilesh J SamaniThomas R WebbAidan BolgerPublished in: Molecular genetics & genomic medicine (2020)
Inactivating NOTCH1 mutations are a rare cause of familial heart disease involving predominantly left ventricular outflow tract lesions and characterized by the heterogeneity of clinical phenotype.
Keyphrases
- aortic valve
- aortic stenosis
- aortic aneurysm
- left ventricular
- transcatheter aortic valve replacement
- aortic valve replacement
- transcatheter aortic valve implantation
- cell proliferation
- heart failure
- spinal cord
- hypertrophic cardiomyopathy
- single cell
- pulmonary hypertension
- early onset
- acute myocardial infarction
- mitral valve
- left atrial
- spinal cord injury
- catheter ablation
- african american
- acute coronary syndrome