A review paper by Bossé et al. examining the potential associations between genomics and risk of aortic valve stenosis (AVS) has been published in the latest issue of the Journal of the American College of Cardiology. The authors described several candidate genes and associated signalling pathways that have been identified by genetic research. The authors have made considerable efforts to use the knowledge obtained from basic research in order to provide a comprehensive picture that considers the factors involved in the pathogenesis of AVS. The pathogenesis of AVS is also summarized, starting from genetic, environmental, and clinical factors, to metabolic and signalling pathways and cellular processes to the actual disease state. The five most relevant trials on genetic association studies of AVS are also reported. Finally, the importance of NOTCH1 as a causal gene for AVS and its associated signalling pathways is described. The authors emphasize that finding causal genes of AVS will be an important step towards AVS prevention and treatment.
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