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Bilateral Semilunar Valve Dysplasia in a Patient with Inverted Duplication 2p25–22

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Abstract

Here we report a patient with partial trisomy 2p and congenital dysplasia of the semilunar valves. To our knowledge, this is the first case of 2p duplication with developmental defects of both semilunar valves and suggests that genes on this region contribute to the formation of the semilunar valves.

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Authors and Affiliations

  1. Division of Pediatric Cardiology, Department of Pediatrics, Rhode Island Hospital, 1 Hoppin Street, Providence, RI, 02903, USA

    L. K. Kochilas

  2. Division of Genetics, Department of Pediatrics, Rhode Island Hospital and Alpert Medical School of Brown University, Providence, RI, USA

    D. N. Abuelo

  3. Division of Genetics, Women and Infants Hospital, Providence, RI, USA

    U. Tantravahi

  4. Department of Pediatrics, Alpert Medical School of Brown University, Providence, RI, USA

    L. K. Kochilas & D. N. Abuelo

Authors
  1. L. K. Kochilas
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  2. D. N. Abuelo
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  3. U. Tantravahi
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Correspondence to L. K. Kochilas.

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Kochilas, L.K., Abuelo, D.N. & Tantravahi, U. Bilateral Semilunar Valve Dysplasia in a Patient with Inverted Duplication 2p25–22. Pediatr Cardiol 29, 172–175 (2008). https://doi.org/10.1007/s00246-007-9013-2

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  • DOI: https://doi.org/10.1007/s00246-007-9013-2

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