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Bicuspid Aortic Valves: an Up-to-Date Review on Genetics, Natural History, and Management

  • Congenital Heart Disease(RA Krasuski and G Fleming, Section Editors)
  • Published:
Current Cardiology Reports Aims and scope Submit manuscript

Abstract

Purpose of Review

Bicuspid aortic valve (BAV) is the most common congenital cardiac abnormality. It has a wide spectrum of clinical manifestations including aortic regurgitation (AR), aortic stenosis, and an associated aortopathy with a small but increased risk of aortic dissection. This review describes current knowledge of BAV, from anatomy and genetics to a discussion of multifaceted strategies utilized in the management of this unique patient population. This review will also highlight critical knowledge gaps in areas of basic and clinical research to enhance further understanding of this clinical entity.

Recent Findings

The current knowledge regarding pathophysiologic mechanisms, screening, and surveillance guidelines for BAV and the associated aortopathy is discussed. We also discuss current management techniques for aortic valve repair versus replacement, indications for aortic surgery (root or ascending aorta), and the emergence of the Ross procedure as a viable management option not only in children, but also in adolescents and adults.

Summary

The varied clinical phenotype of the BAV, resulting in its specific complex hemodynamic interactions, renders it an entity which is separate and distinct from the tricuspid aortic valve pathologies. While various aortic histopathologic and protein alterations in BAV patients have been described, it remains unclear if these changes are causal or the result of hemodynamic alterations imposed by sheer stress on the intrinsically dysfunctional BAV. Medical management for patients with BAV with AS, AI, or dilated aortic roots/ascending aortas remains challenging and needs further investigation. More than 50% of patients with BAV will undergo AVR during their lifetime, and more than 25% of patients with BAV undergo aortic surgery performed for dilation of the aortic root or ascending aorta, often concurrently with AVR. The search for the ultimate genetic or epigenetic cause of the different bicuspid phenotypes will ultimately be facilitated by the next-generation sequencing tools that allow for study of large populations at low cost. Improvements in diagnostic and stratification criteria to accurately risk assess BAV patients are critical to this process.

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Authors and Affiliations

  1. Mount Sinai Heart, Icahn School of Medicine at Mount Sinai, New York, NY, USA

    Eman R. Rashed

  2. Division of Medicine and Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA

    Alexandra Dembar

  3. Division of Medicine, Icahn School of Medicine at Mount Sinai, Mount Sinai Beth Israel, New York, NY, USA

    Maria Riasat

  4. Mount Sinai Adult Congenital Heart Center, Mount Sinai Heart, Icahn School of Medicine at Mount Sinai, 1 Gustave L. Levy Place, Box 1030, New York, NY, 10029, USA

    Ali N. Zaidi

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Rashed, E.R., Dembar, A., Riasat, M. et al. Bicuspid Aortic Valves: an Up-to-Date Review on Genetics, Natural History, and Management. Curr Cardiol Rep 24, 1021–1030 (2022). https://doi.org/10.1007/s11886-022-01716-2

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