The BMPR2 missense mutation p.K230N and pulmonary arterial hypertension

Authors

  • Don Hayes Jr. MD, MS,

    Corresponding author
    1. Section of Pulmonary Medicine, Nationwide Children's Hospital and The Ohio State University, Department of Pediatrics, Columbus, Ohio
    • Correspondence to: The Ohio State University, Nationwide Children's Hospital, 700 Children's Drive, Columbus, OH 43205. E-mail: hayes.705@osu.edu

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  • Chandar Ramanathan MD,

    1. Section of Pulmonary Medicine, Nationwide Children's Hospital and The Ohio State University, Department of Pediatrics, Columbus, Ohio
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  • Benjamin T. Kopp MD

    1. Section of Pulmonary Medicine, Nationwide Children's Hospital and The Ohio State University, Department of Pediatrics, Columbus, Ohio
    2. The Research Institute at Nationwide Children's Hospital, Columbus, Ohio
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  • Conflict of interest: None.
  • The development of this manuscript did not require approval by the Nationwide Children's Hospital Institutional Review Board.

Abstract

We present a patient that is the index case of pulmonary arterial hypertension (PAH) in a child due to the bone morphogenetic protein type II (BMPR2) missense mutation p.K230N, also known as c.690A>T. Missense mutations typically have earlier onset and more severe disease in PAH, so pulmonologists should be aware of this in the evaluation of PAH in children. Pediatr Pulmonol. 2014; 49:E5–E6. © 2013 Wiley Periodicals, Inc.

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