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Bicuspid and unicuspid aortic valves: Different phenotypes of the same disease? Insight from the GenTAC Registry

Joseph M. Krepp1, Mary J. Roman2, Richard B. Devereux2, Adrienne Bruce1, Siddharth K. Prakash3, Shaine A. Morris4, Dianna M. Milewicz3, Kathryn W. Holmes5, William Ravekes5, Ralph V. Shohet6, Reed E. Pyeritz7, Cheryl L. Maslen8, Barbara L. Kroner9, Kim A. Eagle10, Liliana Preiss9, GenTAC Investigators*, Federico M. Asch1
1 MedStar Health Research Institute, Washington, District of Columbia, USA
2 Weill Medical College of Cornell University, New York, New York, USA
3 University of Texas, Houston, Texas, USA
4 Baylor College of Medicine, Houston, Texas, USA
5 Johns Hopkins University, Baltimore, Maryland, USA
6 The Queen’s Medical Center, Honolulu, Hawaii, USA
7 University of Pennsylvania, Philadelphia, Pennsylvania, USA
8 Oregon Health & Science University, Portland, Oregon, USA
9 RTI International, Research Triangle Park, North Carolina, USA
10 University of Michigan, Ann Arbor, Michigan, USA
* Corresponding Author: Federico M. Asch, MD FASE, FACC, 100 Irving St, NW Suite EB 5123, Washington, DC 20010, USA. Email:

Congenital Heart Disease 2017, 12(6), 740-745.


Background: Unicuspid aortic valve (UAV) is a rare disorder, often difficult to distinguish from bicuspid aortic valve (BAV). BAV and UAV share valve pathology such as the presence of a raphe, leaflet fusion, aortic stenosis, aortic regurgitation, and/or ascending aortic dilatation, but a comprehensive echocardiographic comparison of patients with UAV and BAV has not been previously performed.
Methods: We investigated UAV and BAV patients at an early stage of disease included in GenTAC, a national registry of genetically related aortic aneurysms and associated cardiac conditions. Clinical and echocardiographic data from the GenTAC Registry were compared between 17 patients with UAV and 17 matched-controls with BAV.
Results: Baseline characteristics including demographics, clinical findings including family history of BAV and aortic aneurysm/coarctation, and echocardiographic variables were similar between BAV and UAV patients; aortic stenosis was more common and more severe in patients with UAV. This was evidenced by higher mean and peak gradient, smaller aortic valve area, and more advanced valvular degeneration (all P < .05). There were no significant differences in aortic dimensions, with a similar pattern of enlargement of the ascending aorta.
Conclusions: The similar baseline characteristics with more accelerated aortic valve degeneration and stenosis suggest that UAV represents an extreme in the spectrum of BAV syndromes. Therefore, it is reasonable to consider application of recommendations for the management of patients with BAV to those with the rarer UAV.


bicuspid aortic valve, congenital heart disease, unicuspid aortic valve

Cite This Article

Krepp, J. M., Roman, M. J., Devereux, R. B., Bruce, A., Prakash, S. K. et al. (2017). Bicuspid and unicuspid aortic valves: Different phenotypes of the same disease? Insight from the GenTAC Registry. Congenital Heart Disease, 12(6), 740–745.

This work is licensed under a Creative Commons Attribution 4.0 International License , which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
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