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Mutations in genes encoding components of the NOTCH signalling pathway lead to a spectrum of congenital disorders. Over the past decades, mutations in human NOTCH signalling genes have been identified in several diseases with cardiovascular involvement. <jats:italic>NOTCH1<\/jats:italic> mutations have been described in bicuspid aortic valve disease, left\u2010sided congenital heart disease, and Adams\u2010Oliver syndrome. <jats:italic>NOTCH2<\/jats:italic> mutations lead to the development of Alagille syndrome, while mutations in <jats:italic>NOTCH3<\/jats:italic> cause cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. To date, mutations in <jats:italic>NOTCH4<\/jats:italic> have not been associated with cardiovascular disease. This review focuses on the mutations described in <jats:italic>NOTCH1<\/jats:italic>, <jats:italic>NOTCH2<\/jats:italic>, and <jats:italic>NOTCH3<\/jats:italic> and their associated cardiovascular phenotypes.<\/jats:p>","DOI":"10.1111\/cge.13382","type":"journal-article","created":{"date-parts":[[2018,5,16]],"date-time":"2018-05-16T09:05:40Z","timestamp":1526461540000},"page":"85-94","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":55,"title":["Overlapping but distinct roles for NOTCH receptors in human cardiovascular disease"],"prefix":"10.1111","volume":"95","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8516-5856","authenticated-orcid":false,"given":"J.A.N.","family":"Meester","sequence":"first","affiliation":[{"name":"Centre of Medical Genetics University of Antwerp and Antwerp University Hospital  Antwerp 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