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CASE REPORT
BMPR1A mutation–positive juvenile polyposis syndrome and atrial septal defect: coincidence or association?
  1. Rachel E Harris and
  2. Richard K Russell
  1. Department of Paediatric Gastroenterology, Hepatology and Nutrition, Royal Hospital for Children Glasgow, Glasgow, UK
  1. Correspondence to Dr Rachel E Harris, rachel.harris16{at}nhs.net

Abstract

We describe the case of a 16-year-old male patient with BMPR1A mutation and incidentally detected atrial septal defect (ASD). This patient was diagnosed with BMPR1A mutation through genetic testing and was attending for routine surveillance endoscopy when ASD was incidentally diagnosed. He was referred to cardiology outpatient clinic with plans for elective ASD closure. Through this case report we aim to discuss the pathophysiology of juvenile polyposis syndrome (JPS), highlight what we believe to be a novel presentation of comorbid BMPR1A mutation and ASD and hypothesise that patients with BMPR1A mutation and JPS may be at risk of previously unrecognised cardiovascular complications analogous to the previous association of SMAD4 JPS and cardiac abnormalities.

  • genetics
  • gastroenterology
  • cardiovascular medicine
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Footnotes

  • Contributors REH prepared the manuscript with comments and review from co-author. RKR provided critical review of the manuscript. Both authors have approved the uploaded draft.

  • Funding REH’s Clinical Research Fellow post is supported by the Catherine McEwan Foundation; RKR is supported by an NHS Research Scotland Senior Research Fellowship.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Patient consent for publication Parental/guardian consent obtained.

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