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Pulmonary Interstitial Emphysema in an Infant with Critical Congenital Heart Defect Associated with TNNC1 Gene Mutation and 22q11.2 Microdeletion: A Case Report

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Abstract

Pulmonary interstitial emphysema is a clinical state occurring in newborns and infants that involves lung damage with air leak into the pulmonary interstitium. The data about this condition among newborns with critical heart defects are limited. We report a case of an infant with complex heart disease, 22q11.2 microdeletion, and TNNC1 gene mutation presenting with pulmonary interstitial emphysema. The infant was intubated for respiratory failure and underwent pulmonary artery banding. Weaning from mechanical ventilation was complicated with pulmonary interstitial emphysema and pneumothorax development. Pulmonary interstitial emphysema was fully resolved after lateral decubitus positioning on the affected side down. Complete repair of the common arterial trunk was accomplished at the age of 2 months with no signs of residual pulmonary interstitial emphysema. Lateral decubitus positioning may be effective as a non-invasive treatment in an infant with pulmonary interstitial emphysema and complex heart disease.

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Authors and Affiliations

  1. Pediatric Cardiac Intensive Care Unit, National Institute of Cardiovascular Diseases, Pod Krasnou Horkou 1, 833 48, Bratislava, Slovakia

    Krasnanova Veronika, Kovacikova Lubica & Hrubsova Zuzana

  2. Department of Pediatric Pneumology and Phtiseology, National Institute of Children’s Diseases, Limbova 1, 833 40, Bratislava, Slovakia

    Neuschlova Iveta

Authors
  1. Krasnanova Veronika
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  2. Kovacikova Lubica
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  3. Hrubsova Zuzana
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  4. Neuschlova Iveta
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Contributions

VK contributed to the drafting of the work and data collection and was a major contributor in writing the manuscript. LK, ZH, and IN contributed to the conception of the case report and review of the final draft. All authors approved the final manuscript.

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Correspondence to Krasnanova Veronika.

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Ethics Approval

This study was approved by the Institutional Review Board of the National Institute of Cardiovascular Diseases in Bratislava, Slovakia.

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The parents of the patient signed a freely given informed consent to participate.

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The parents of the patient signed a freely given consent for publication of this case report.

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The authors declare no competing interests.

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Veronika, K., Lubica, K., Zuzana, H. et al. Pulmonary Interstitial Emphysema in an Infant with Critical Congenital Heart Defect Associated with TNNC1 Gene Mutation and 22q11.2 Microdeletion: A Case Report. SN Compr. Clin. Med. 6, 43 (2024). https://doi.org/10.1007/s42399-024-01672-8

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  • DOI: https://doi.org/10.1007/s42399-024-01672-8

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