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Article

Novel loss of function mutation in NOTCH1 in a family with bicuspid aortic valve, ventricular septal defect, thoracic aortic aneurysm, and aortic valve stenosis.

Molecular genetics & genomic medicine - 1 Oct 2020

Debiec Radoslaw, Hamby Stephen E, Jones Peter D, Coolman Sue, Asiani Manish, Kharodia Shireen, Skinner Gregory J, Samani Nilesh J, Webb Tom R, Bolger Aidan

Abstract excerpt

BACKGROUND: Bicuspid aortic valve is the most common congenital valvular heart defect in the general population. BAV is associated with significant morbidity due to valve failure, formation of thoracic aortic aneurysm, and increased risk of infective endocarditis and aortic dissection. Loss of function mutations in NOTCH1 (OMIM 190198) has previously been associated with congenital heart disease involving the...

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Share to Aortic Aneurysm, Thoracic
Share to Aortic Valve Stenosis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Bicuspid Aortic Valve Disease

Share to Codon, Nonsense

Share to Heart Septal Defects, Ventricular

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Share to Receptor, Notch1

Source

Open in PubMed Open full text

Identifiers

PMID: 32720365
DOI: 10.1002/mgg3.1437
PMCID: PMC7549557

Genes

NOTCH1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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