Bicuspid and unicuspid aortic valves: Different phenotypes of the same disease? Insight from the GenTAC Registry.
Bicuspid and unicuspid aortic valves: Different phenotypes of the same disease? Insight from the GenTAC Registry.
- 2017
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. 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. Copyright (c) 2017 Wiley Periodicals, Inc. 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.
English
1747-079X
*Aortic Valve/ab [Abnormalities]
*Heart Valve Diseases/ge [Genetics]
*Registries
Adolescent
Adult
Aorta/dg [Diagnostic Imaging]
Aortic Valve/dg [Diagnostic Imaging]
Child
Child, Preschool
Diagnosis, Differential
Echocardiography
Female
Heart Valve Diseases/cn [Congenital]
Heart Valve Diseases/di [Diagnosis]
Humans
Infant
Male
Middle Aged
Phenotype
Retrospective Studies
Young Adult
MedStar Heart & Vascular Institute
Journal Article
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. 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. Copyright (c) 2017 Wiley Periodicals, Inc. 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.
English
1747-079X
*Aortic Valve/ab [Abnormalities]
*Heart Valve Diseases/ge [Genetics]
*Registries
Adolescent
Adult
Aorta/dg [Diagnostic Imaging]
Aortic Valve/dg [Diagnostic Imaging]
Child
Child, Preschool
Diagnosis, Differential
Echocardiography
Female
Heart Valve Diseases/cn [Congenital]
Heart Valve Diseases/di [Diagnosis]
Humans
Infant
Male
Middle Aged
Phenotype
Retrospective Studies
Young Adult
MedStar Heart & Vascular Institute
Journal Article