Open AccessBicuspid and unicuspid aortic valves: Different phenotypes of the same disease? Insight from the GenTAC Registry
Author(s) -
Krepp Joseph M.,
Roman Mary J.,
Devereux Richard B.,
Bruce Adrienne,
Prakash Siddharth K.,
Morris Shaine A.,
Milewicz Dianna M.,
Holmes Kathryn W.,
Ravekes William,
Shohet Ralph V.,
Pyeritz Reed E.,
Maslen Cheryl L.,
Kroner Barbara L.,
Eagle Kim A.,
Preiss Liliana,
Asch Federico M.
Publication year - 2017
Publication title -
congenital heart disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.828
H-Index - 42
eISSN - 1747-0803
pISSN - 1747-079X
DOI - 10.1111/chd.12520
Subject(s) - medicine , bicuspid aortic valve , cardiology , stenosis , regurgitation (circulation) , ascending aorta , aortic valve , aortic aneurysm , aorta
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.