Expanding the phenotype of cardiovascular malformations in Adams–Oliver syndrome

Authors

  • Claudia Algaze,

    Corresponding author
    • Division of Pediatric Cardiology, Department of Pediatrics Lucile Packard Children's Hospital, Stanford University, Stanford, California
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  • Edward D. Esplin,

    1. Division of Medical Genetics, Department of Pediatrics Lucile Packard Children's Hospital, Stanford University, Stanford, California
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  • Alexander Lowenthal,

    1. Division of Pediatric Cardiology, Department of Pediatrics Lucile Packard Children's Hospital, Stanford University, Stanford, California
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  • Louanne Hudgins,

    1. Division of Medical Genetics, Department of Pediatrics Lucile Packard Children's Hospital, Stanford University, Stanford, California
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  • Theresa Ann Tacy,

    1. Division of Pediatric Cardiology, Department of Pediatrics Lucile Packard Children's Hospital, Stanford University, Stanford, California
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  • Elif Seda Selamet Tierney

    1. Division of Pediatric Cardiology, Department of Pediatrics Lucile Packard Children's Hospital, Stanford University, Stanford, California
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Correspondence to:

Claudia Algaze, M.D., Pediatric Heart Center, Stanford University, Welch Road, Suite 305, Mail Code 5731, Palo Alto, CA 94304-5731. E-mail: calgaze@stanford.edu

Abstract

We describe a newborn with a phenotype consistent with Adams–Oliver syndrome and truncus arteriosus. Although cardiovascular malformations associated with this syndrome have been previously published in the literature, this is the first description of truncus arteriosus in a patient with Adams–Oliver syndrome. We review other reports of Adams–Oliver syndrome previously described with cardiovascular malformations, consider possible genetic and embryologic mechanisms, and emphasize the need for cardiology consultation when a diagnosis of Adams–Oliver syndrome is suspected in the differential diagnosis. © 2013 Wiley Periodicals, Inc.

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