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CASE REPORT article

Front. Genet.
Sec. Genetics of Common and Rare Diseases
Volume 15 - 2024 | doi: 10.3389/fgene.2024.1451746
This article is part of the Research Topic Recent Advances in Causes, Diagnosis, and Therapeutics for Congenital Heart Defects View all 11 articles

An Association of Left Ventricular Outflow Tract Obstruction with 5p Deletions

Provisionally accepted
Kira Mascho Kira Mascho 1Svetlana A. Yatsenko Svetlana A. Yatsenko 2Cecilia W. Lo Cecilia W. Lo 2Xinxiu Xu Xinxiu Xu 2Jennifer Johnson Jennifer Johnson 3Lindsey R. Helvaty Lindsey R. Helvaty 4,5Stephanie Burns Wechsler Stephanie Burns Wechsler 6Chaya Murali Chaya Murali 7Seema Lalani Seema Lalani 7Vidu Garg Vidu Garg 8Jennelle C. Hodge Jennelle C. Hodge 5McBride L. Kim McBride L. Kim 8,9Stephanie Ware Stephanie Ware 10Jiuann Huey LIn Jiuann Huey LIn 11,3*
  • 1 Division of Pediatric Critical Care Medicine, University Hospitals Rainbow Babies and Children’s Hospital, Cleveland, Ohio, United States
  • 2 University of Pittsburgh, Pittsburgh, Pennsylvania, United States
  • 3 Children's Hospital of Pittsburgh, School of Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania, United States
  • 4 School of Medicine, Indiana University Bloomington, Indianapolis, Indiana, United States
  • 5 Department of Pediatrics, School of Medicine, Indiana University Bloomington, Indianapolis, Indiana, United States
  • 6 Department of Human Genetics, School of Medicine, Emory University, Atlanta, Georgia, United States
  • 7 Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States
  • 8 Center for Cardiovascular Research, Nationwide Children's Hospital, Columbus, Georgia, United States
  • 9 Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada
  • 10 Department of Medical and Molecular Genetics, School of Medicine, Indiana University Bloomington, Indianapolis, Indiana, United States
  • 11 Department of Critical Care, University of Pittsburgh, Pittsburgh, Pennsylvania, United States

The final, formatted version of the article will be published soon.

    Introduction: 5p deletion syndrome, also called Cri-du-chat syndrome 5p is a rare genetic syndrome with reports up to 36% of patients are associated with congenital heart defects. We investigated the association between left outflow tract obstruction and Cri-du-chat syndrome.Methods: A retrospective review of the abnormal microarray cases with congenital heart defects in Children's Hospital of Pittsburgh and the Cytogenomics of Cardiovascular Malformations Consortium.Results: A retrospective review at nine pediatric centers identified 4 patients with 5p deletions and left outflow tract obstruction (LVOTO). Three of these patients had additional copy number variants. We present data suggesting an association of LVOTO with 5p deletion with high mortality in the presence of additional copy number variants.Conclusion: A rare combination of 5p deletion and left ventricular outflow obstruction was observed in the registry of copy number variants and congenital heart defects.

    Keywords: 5p deletion, Congenital heart defect, Genetic disorder, Left ventricular outflow tract obstruction, copy number variant

    Received: 19 Jun 2024; Accepted: 25 Sep 2024.

    Copyright: © 2024 Mascho, Yatsenko, Lo, Xu, Johnson, Helvaty, Burns Wechsler, Murali, Lalani, Garg, Hodge, Kim, Ware and LIn. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Jiuann Huey LIn, Children's Hospital of Pittsburgh, School of Medicine, University of Pittsburgh, Pittsburgh, PA 15224, Pennsylvania, United States

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