BMJ Case Reports 2018; doi:10.1136/bcr-2018-224382
  • Unusual association of diseases/symptoms

Unilateral lung agenesis, hiatal hernia and atrioventricular septal defect: a rare combination of congenital anomalies

  1. Sethuraman Swaminathan
  1. Division of Cardiology, Department of Pediatrics, University of Miami Miller School of Medicine, Miami, Florida, USA
  1. Correspondence to Dr Sethuraman Swaminathan, sswami{at}
  • Accepted 25 April 2018
  • Published 12 May 2018


Unilateral lung agenesis is a relatively rare congenital anomaly with a reported incidence of 1 in 15 000 births. It is frequently associated with other congenital malformations. Some of the sequelae of lung agenesis are potentially life-threatening. Here, we report a case of left lung agenesis in association with hiatal hernia and atrioventricular septal defect, a rare combination of anomalies which have not been described previously in the literature.


  • Contributors SRG and JF-S drafted the initial manuscript. AG reviewed and revised the manuscript. SS has critically reviewed and revised the manuscript. All authors approved the final manuscript as submitted and agree to be accountable for all aspects of the work.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Patient consent Next of kin consent obtained.

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

Register for free content

The full text of all Editor's Choice articles and summaries of every article are free without registration

The full text of Images in ... articles are free to registered users

Only fellows can access the full text of case reports (apart from Editor's Choice) - become a fellow today, or encourage your institution to, so that together we can grow and develop this resource

Don't forget to sign up for content alerts so you keep up to date with all the case reports as they are published, and let us know what you think by commenting on the Editor's blog

Navigate This Article