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Long-term outcomes in children with absent pulmonary valve syndrome: it is not just fixing the heart
  1. Katalin Torok1,
  2. Elizabeth Brettle2,
  3. Tarak Desai1,
  4. Paul Miller1,
  5. Natasha Khan1,
  6. John Stickey1,
  7. Prasad Nagakumar2,3,
  8. Anna Seale1,4
  1. 1Department of Cardiology and Cardiovascular Surgery, Birmingham Women’s and Children’s Hospitals NHS Foundation Trust, Birmingham, UK
  2. 2Paediatric Respiratory Medicine and Cystic Fibrosis, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK
  3. 3Birmingham Acute Care Research Group, Institute of Inflammation and Ageing, University of Birmingham, Birmingham, West Midlands, UK
  4. 4College of Medical and Dental Science, Institute of Cardiovascular Sciences, Congenital Heart Disease Research Group, University of Birmingham, Birmingham, West Midlands, UK
  1. Correspondence to Dr Anna Seale, Department of Cardiology and Cardiovascular Surgery, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK; annaseale{at}


Objective Absent pulmonary valve syndrome (APV) is a rare condition usually associated with tetralogy of Fallot (TOF). Some infants develop respiratory failure from bronchial compression and the long-term neurodevelopmental outcome is unknown. We aimed to investigate the outcomes of APV and the need for long-term ventilation (LTV).

Design, patients and setting Retrospective single-centre review of patients diagnosed with APV between 2007 and 2017.

Outcome measures Survival, neurological disability and postoperative LTV (≥3 months of non-invasive or invasive respiratory support).

Results Thirty patients were identified, 22 (73%) of whom were prenatally diagnosed. Pregnancy was discontinued in one patient, while in utero death occurred in three. One was lost to follow-up. Of the remaining 25 liveborn, 21 had the classic TOF/APV. One baby died immediately after birth, while two patients had palliative care due to severe airway compression and inability to wean ventilation support. Surgical repair was performed in 21 of the 25 (84%) liveborn, with one awaiting surgery. Of those undergoing surgery, two patients died: one during surgery and the other due to severe airway malacia 5 months postsurgery. In the surgical group survival from birth at 1 and 5 years was 89% (95% CI 75% to 100%). Six (30%) patients required LTV postoperatively; all had surgery within the first 6 months of life. Learning and/or other physical difficulties were evident in 63%.

Conclusions Majority of patients with APV are diagnosed antenatally. A third of those operated required LTV and over half had learning and/or other physical difficulties. Prospective studies are needed to identify prenatal factors that predict postnatal outcomes so parents can be counselled appropriately.

  • cardiology
  • syndrome

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  • PN and AS are joint senior authors.

  • Twitter @prasadnagakumar

  • Contributors ANS and PN conceived the project. KT and EB acquired and interpreted the data in this study. JS and KT performed the data analysis. TD, PM, NK, PN and ANS assisted with study design, supervised data collection and revised the article. All authors contributed equally to the manuscript.

  • 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 for publication Not required.

  • Ethics approval This was a retrospective study reviewing imaging and outcome and no ethical approval was required.

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

  • Data availability statement Data are available upon reasonable request.

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