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Herniation of mitral leaflets in the ehlers-danlos syndrome

  • Kenneth D Brandt
    Affiliations
    Section of Arthritis and Connective Tissue Disease and the Section of Cardiology, Department of Medicine, University Hospital, and Thorndike Memorial Laboratory, Department of Medicine, Boston City Hospital, Boston University School of Medicine, Boston, Mass., USA
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  • Robert D Sumner
    Affiliations
    Section of Arthritis and Connective Tissue Disease and the Section of Cardiology, Department of Medicine, University Hospital, and Thorndike Memorial Laboratory, Department of Medicine, Boston City Hospital, Boston University School of Medicine, Boston, Mass., USA
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  • Thomas J Ryan
    Affiliations
    Section of Arthritis and Connective Tissue Disease and the Section of Cardiology, Department of Medicine, University Hospital, and Thorndike Memorial Laboratory, Department of Medicine, Boston City Hospital, Boston University School of Medicine, Boston, Mass., USA
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  • Alan S Cohen
    Affiliations
    Section of Arthritis and Connective Tissue Disease and the Section of Cardiology, Department of Medicine, University Hospital, and Thorndike Memorial Laboratory, Department of Medicine, Boston City Hospital, Boston University School of Medicine, Boston, Mass., USA
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      Abstract

      A 47 year old patient with the Ehlers-Danlos syndrome (hypermobility of the joints, hyperextensibility of the skin and atrophic cutaneous scars) was evaluated because of a mitral regurgitant murmur and paroxysmal atrial tachycardia. Angiocardiography and echocardiography demonstrated marked systolic herniation of the posterior leaflet of the mitral valve. An echocardiogram from the patient's daughter, who also had paroxysmal atrial tachycardia, revealed the same abnormality. Although a “floppy” valve is common in Marfan's syndrome, this report emphasizes that it may also occur in patients with other heritable disorders of connective tissue.
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