TY - JOUR
T1 - Bicuspid and unicuspid aortic valves
T2 - Different phenotypes of the same disease? Insight from the GenTAC Registry
AU - GenTAC Investigators
AU - Krepp, Joseph M.
AU - Roman, Mary J.
AU - Devereux, Richard B.
AU - Bruce, Adrienne
AU - Prakash, Siddharth K.
AU - Morris, Shaine A.
AU - Milewicz, Dianna M.
AU - Holmes, Kathryn W.
AU - Ravekes, William
AU - Shohet, Ralph V.
AU - Pyeritz, Reed E.
AU - Maslen, Cheryl L.
AU - Kroner, Barbara L.
AU - Eagle, Kim A.
AU - Preiss, Liliana
AU - Asch, Federico M.
N1 - Publisher Copyright:
© 2017 Wiley Periodicals, Inc.
PY - 2017/11/1
Y1 - 2017/11/1
N2 - 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.
AB - 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.
KW - bicuspid aortic valve
KW - congenital heart disease
KW - unicuspid aortic valve
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U2 - 10.1111/chd.12520
DO - 10.1111/chd.12520
M3 - Article
C2 - 28805011
AN - SCOPUS:85035806831
SN - 1747-079X
VL - 12
SP - 740
EP - 745
JO - Congenital Heart Disease
JF - Congenital Heart Disease
IS - 6
ER -