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

GenTAC Investigators

    Research output: Contribution to journalArticle

    5 Citations (Scopus)

    Abstract

    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.

    Original languageEnglish (US)
    Pages (from-to)740-745
    Number of pages6
    JournalCongenital Heart Disease
    Volume12
    Issue number6
    DOIs
    StatePublished - Nov 1 2017

    Fingerprint

    Aortic Valve
    Registries
    Phenotype
    Aortic Valve Stenosis
    Aortic Aneurysm
    Bicuspid Aortic Valve
    Aortic Coarctation
    Aortic Valve Insufficiency
    Aorta
    Dilatation
    Demography
    Pathology

    Keywords

    • bicuspid aortic valve
    • congenital heart disease
    • unicuspid aortic valve

    ASJC Scopus subject areas

    • Pediatrics, Perinatology, and Child Health
    • Surgery
    • Radiology Nuclear Medicine and imaging
    • Cardiology and Cardiovascular Medicine

    Cite this

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

    In: Congenital Heart Disease, Vol. 12, No. 6, 01.11.2017, p. 740-745.

    Research output: Contribution to journalArticle

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    title = "Bicuspid and unicuspid aortic valves: Different phenotypes of the same disease? Insight from the GenTAC Registry",
    abstract = "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.",
    keywords = "bicuspid aortic valve, congenital heart disease, unicuspid aortic valve",
    author = "{GenTAC Investigators} and Krepp, {Joseph M.} and Roman, {Mary J.} and Devereux, {Richard B.} and Adrienne Bruce and Prakash, {Siddharth K.} and Morris, {Shaine A.} and Milewicz, {Dianna M.} and Kathryn Holmes and William Ravekes and Shohet, {Ralph V.} and Pyeritz, {Reed E.} and Cheryl Maslen and Kroner, {Barbara L.} and Eagle, {Kim A.} and Liliana Preiss and Asch, {Federico M.}",
    year = "2017",
    month = "11",
    day = "1",
    doi = "10.1111/chd.12520",
    language = "English (US)",
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    pages = "740--745",
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    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

    AU - Ravekes, William

    AU - Shohet, Ralph V.

    AU - Pyeritz, Reed E.

    AU - Maslen, Cheryl

    AU - Kroner, Barbara L.

    AU - Eagle, Kim A.

    AU - Preiss, Liliana

    AU - Asch, Federico M.

    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

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