Agenesis of the Inferior Vena Cava in H Syndrome Due to a Novel SLC29A3 Mutation

Authors

  • Gül Yesiltepe Mutlu M.D.,

    1. Department of Pediatric Endocrinology and Diabetes, Kocaeli University School of Medicine, Kocaeli, Turkey
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  • Yuval Ramot M.D., M.Sc.,

    1. Department of Dermatology and the Center for Genetic Diseases of the Skin and Hair, Hadassah-Hebrew University Medical Center, Jerusalem, Israel
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  • Kadir Babaoglu M.D.,

    1. Department of Pediatric Cardiology, Kocaeli University School of Medicine, Kocaeli, Turkey
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  • Gurkan Altun M.D.,

    1. Department of Pediatric Cardiology, Kocaeli University School of Medicine, Kocaeli, Turkey
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  • Abraham Zlotogorski M.D.,

    Corresponding author
    1. Department of Dermatology and the Center for Genetic Diseases of the Skin and Hair, Hadassah-Hebrew University Medical Center, Jerusalem, Israel
    • Department of Pediatric Endocrinology and Diabetes, Kocaeli University School of Medicine, Kocaeli, Turkey
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  • Vered Molho-Pessach M.D.

    1. Department of Dermatology and the Center for Genetic Diseases of the Skin and Hair, Hadassah-Hebrew University Medical Center, Jerusalem, Israel
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Address correspondence to Abraham Zlotogorski, M.D., Department of Dermatology, Hadassah-Hebrew University Medical Center, PO Box 12000, Jerusalem 91200, Israel, or e-mail: zloto@cc.huji.ac.il.

Abstract

We present a 10-year-old girl with typical clinical features of H syndrome. Complete agenesis of the inferior vena cava was found on echocardiography and radiologic studies. Mutation analysis of the SLC29A3 gene revealed a novel nonsense mutation. This unique case extends the clinical and mutation spectrum associated with H syndrome and underlines the importance of routine cardiac screening in this disorder.

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