Genetics of bicuspid aortic valve: ready for clinical use?

Heartbeat: treatment delays with telephone triage for acute myocardial infarction

“…In patients with a sporadic BAV, a pathogenic NOTCH1 variant was found in only 0.05% (95% CI 0.005% to 0.10%) and a likely pathogenic variant in 0.08% (95% CI 0.02% to 0.13%). Rodriguez-Palomares4 discusses the complexities of genetic associations with BAV disease and provides the perspective that this data confirms ‘that NOTCH1 variants explain only a small proportion of BAV disease and are associated with more complex congenital phenotypes such as tetralogy of Fallot or hypoplastic left heart syndrome.’ Rodriguez-Palomares concludes that ‘Collectively, the available evidence supports the notion that the clinical heterogeneity of BAV involves complex interactions between primary genetic defects, other genetic factors (gene modifiers), epigenetic factors (DNA methylation or histone modifications, miRNA) and haemodynamic abnormalities in the aortic mechanics and valve morphology (figure 2).…”