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From diagnosis to postoperative challenges: a comprehensive case report on 2q37 deletion syndrome with CHD

Published online by Cambridge University Press:  02 October 2024

Ryosuke Kowatari Open the ORCID record for Ryosuke Kowatari [Opens in a new window] ,
Hanae Sasaki ,
Kazuyuki Daitoku ,
Fumitake Miura ,
Jun Shimada ,
Yosuke Kitagawa  and
Masahito Minakawa
Ryosuke Kowatari*
Affiliation:
Department of Thoracic and Cardiovascular Surgery, Hirosaki University School of Medicine, Hirosaki, Aomori, Japan
Hanae Sasaki
Affiliation:
Department of Thoracic and Cardiovascular Surgery, Hirosaki University School of Medicine, Hirosaki, Aomori, Japan
Kazuyuki Daitoku
Affiliation:
Department of Thoracic and Cardiovascular Surgery, Hirosaki University School of Medicine, Hirosaki, Aomori, Japan
Fumitake Miura
Affiliation:
Department of Pediatrics, Hirosaki University School of Medicine, Hirosaki, Aomori, Japan
Jun Shimada
Affiliation:
Department of Pediatrics, Hirosaki University School of Medicine, Hirosaki, Aomori, Japan
Yosuke Kitagawa
Affiliation:
Department of Pediatrics, Hirosaki University School of Medicine, Hirosaki, Aomori, Japan
Masahito Minakawa
Affiliation:
Department of Thoracic and Cardiovascular Surgery, Hirosaki University School of Medicine, Hirosaki, Aomori, Japan
*
Corresponding author: Ryosuke Kowatari; Email: [email protected]
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Abstract

Chromosomal 2q37 deletion syndrome, marked by developmental delays, distinctive facial features, and a spectrum of congenital anomalies, presents significant challenges in the cardiac management of affected individuals. This paper details the case of an 8-month-old male with 2q37 deletion syndrome, manifesting atrial and ventricular septal defects, patent ductus arteriosus, and right ventricular outflow tract stenosis, leading to a demanding postoperative course. Despite an initially stable post-surgery phase, the onset of junctional ectopic tachycardia necessitated prolonged veno-arterial extracorporeal membrane oxygenation support, highlighting the syndrome’s potential for intricate postoperative courses. The complexities encountered in this case, including extended renal replacement therapy and delayed thoracic closure, underscore the syndrome’s multisystem impact and the critical need for tailored, multidisciplinary care approaches. This report contributes to the growing body of knowledge on the cardiac implications of 2q37 deletion syndrome, emphasising the importance of individualised surgical strategies and the ongoing exploration of genotype–phenotype correlations in this rare genetic disorder.

Keywords

2q37 deletion syndromeCHDpostoperative complicationscardiac surgerychromosomal abnormality
Type
Brief Report
Information
Cardiology in the Young , Volume 34 , Issue 9 , September 2024 , pp. 2042 - 2045
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Copyright
© The Author(s), 2024. Published by Cambridge University Press

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References

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