Case Report: An association of left ventricular outflow tract obstruction with 5p deletions.

Autor:	Mascho K; Division of Pediatric Critical Care, Rainbow Babies and Children's Hospital, Cleveland, OH, United States., Yatsenko SA; University of Pittsburgh, Pittsburgh, PA, United States., Lo CW; University of Pittsburgh, Pittsburgh, PA, United States., Xu X; University of Pittsburgh, Pittsburgh, PA, United States., Johnson J; UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, United States., Helvaty LR; Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN, United States., Burns Wechsler S; Division of Medical Genetics, Emory University School of Medicine, Atlanta, GA, United States., Murali CN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States., Lalani SR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States., Garg V; Center for Cardiovascular Research and Heart Center, Nationwide Children's Hospital, Columbus, OH, United States., Hodge JC; Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN, United States., McBride KL; Center for Cardiovascular Research and Heart Center, Nationwide Children's Hospital, Columbus, OH, United States.; Department of Medical Genetics, University of Calgary, Calgary, AB, Canada., Ware SM; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, United States., Lin JI; University of Pittsburgh, Pittsburgh, PA, United States.; UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, United States.; Department of Critical Care Medicine, University of Pittsburgh, Pittsburgh, PA, United States.
Jazyk:	angličtina
Zdroj:	Frontiers in genetics [Front Genet] 2024 Oct 18; Vol. 15, pp. 1451746. Date of Electronic Publication: 2024 Oct 18 (Print Publication: 2024).
DOI:	10.3389/fgene.2024.1451746
Abstrakt:	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. Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. The author(s) declared that they were an editorial board member of Frontiers, at the time of submission. This had no impact on the peer review process and the final decision. (Copyright © 2024 Mascho, Yatsenko, Lo, Xu, Johnson, Helvaty, Burns Wechsler, Murali, Lalani, Garg, Hodge, McBride, Ware and Lin.)
Databáze:	MEDLINE
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