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Clinical Cardiogenetics pp 345–360Cite as

Bicuspid Aortic Valve

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Abstract

An aortic valve typically consists of three leaflets: two are named after their orientation relative to the left and right coronary artery, while the third is called the non-coronary cusp. In 0.5–2% of the general population, the aortic valve comprises only two leaflets, which is termed a bicuspid aortic valve (BAV). BAV is the most prevalent congenital heart defect and is believed to result from abnormal embryological fusion of two adjacent cusps or abnormal septation of one larger primordial cusp, due to defective endothelial-to-mesenchymal transition in the outflow tract or abnormal activity of cardiac neural crest cells. Although intrinsically asymptomatic, it associates with severe cardiovascular complications such as aortic stenosis, aortic regurgitation, and ascending aortic dilatation. Also aortic coarctation is found more often in BAV patients compared to individuals with a normal aortic valve. In the past, these manifestations accounted for a higher mortality and morbidity than all other congenital heart defects combined. As to significant advances in perioperative management, however, survival rates between BAV patients with minimal valve dysfunction and tricuspid aortic valve (TAV) individuals have now almost equaled. Further improvement of the existing interventions as well as discovery of novel therapeutic targets and accurate predictive biomarkers for BAV-related complications is still warranted though. Therefore, the condition’s pathomechanisms are currently being extensively studied. Although these investigations have been insightful to some extent, knowledge gaps have increasingly been exposed, highlighting the importance of future instigation of additional experiments digging into the etiology of BAV. In this chapter, a comprehensive overview on the clinical and yet unraveled molecular characteristics of BAV will be provided, as well as a reflection on the factors underlying its current etiological inscrutability.

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Authors and Affiliations

  1. Center of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium

    Aline Verstraeten & Bart Loeys

  2. Department of Cardiology, Erasmus Medical Centre, Rotterdam, The Netherlands

    Jolien Roos-Hesselink

  3. Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands

    Bart Loeys

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  1. Aline Verstraeten
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Correspondence to Aline Verstraeten .

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  1. Consultant Cardiologist at the OLVG Hospital, Amsterdam, The Netherlands

    Hubert F. Baars

  2. Utrecht University, Utrecht, The Netherlands

    Pieter A. F. M. Doevendans

  3. Amsterdam University Medical Center, Amsterdam, The Netherlands

    Arjan C. Houweling

  4. University Medical Center Utrecht, Utrecht, The Netherlands

    J. Peter van Tintelen

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Verstraeten, A., Roos-Hesselink, J., Loeys, B. (2020). Bicuspid Aortic Valve. In: Baars, H.F., Doevendans, P.A.F.M., Houweling, A.C., van Tintelen, J.P. (eds) Clinical Cardiogenetics. Springer, Cham. https://doi.org/10.1007/978-3-030-45457-9_20

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