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Trisomy 21, transposition of the great arteries and abnormal myelopoiesis

Part of: Surgery

Published online by Cambridge University Press:  21 June 2021

Chandan Mishra
Affiliation:
Department of Laboratory Medicine, All India Institute of Medical Sciences, New Delhi, India
Lamk Kadiyani
Affiliation:
Department of Cardiology, All India Institute of Medical Sciences, New Delhi, India
Sivasubramanian Ramakrishnan
Affiliation:
Department of Cardiology, All India Institute of Medical Sciences, New Delhi, India
Tushar Sehgal*
Affiliation:
Department of Laboratory Medicine, All India Institute of Medical Sciences, New Delhi, India
*
Author for correspondence: Dr Tushar Sehgal, MD (Pathology) DM (Hematopathology), Assistant Professor, Department of Laboratory Medicine, Second Floor, Teaching Block, All India Institute of Medical Sciences, New Delhi, India. Tel: +918558843932. E-mail: Doctusharsehgal@yahoo.co.in

Abstract

Down syndrome is a well-recognised genetic condition associated with several comorbidities. Although CHD is common in Down syndrome, transposition of the great arteries is exceptionally rare. We describe a neonate with Down syndrome who presented with transient abnormal myelopoiesis and transposition of the great arteries. Down syndrome may accelerate pulmonary hypertension in transposition of the great arteries and is associated with poor outcomes.

Type
Brief Report
Copyright
© The Author(s), 2021. Published by Cambridge University Press

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References

D’Alto, M, Di Marco, GM. Eisenmenger syndrome in patients with down syndrome. In: Dimopoulos, K, Diller, GP (eds). Pulmonary Hypertension in Adult Congenital Heart Disease, Congenital Heart Disease in Adolescents and Adults. Cham: Springer International Publishing AG, 2017: 279289.CrossRefGoogle Scholar
Morris, JK, Alberman, E. Trends in Down’s syndrome live births and antenatal diagnoses in England and Wales from 1989 to 2008: analysis of data from the National Down Syndrome Cytogenetic Register. BMJ 2009; 339: b3794.CrossRefGoogle ScholarPubMed
Delabar, JM, Theophile, D, Rahmani, Z, et al. Molecular mapping of twenty-four features of Down syndrome on chromosome 21. Eur J Hum Genet 1993; 1: 114124.CrossRefGoogle ScholarPubMed
Baumann, I, Niemeyer, CM, Brunning, AD, et al. Myeloid proliferations related to Down syndrome. In: Swerdlow, S, Campo, E, Harris, N, Jaffe, E, Pileri, S, Stein, H, Thiele, J (eds). WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues, revised 4th edn. IARC, Lyon, 2017: 169171.Google Scholar
Watanabe, K. Recent advances in the understanding of transient abnormal myelopoiesis in Down syndrome. Pediatr Int 2019; 61: 222229.CrossRefGoogle ScholarPubMed
Versacci, P, Di Carlo, D, Digilio, MC, Marino, B. Cardiovascular disease in Down syndrome. Curr Opin in Pediat 2018; 30: 616622.CrossRefGoogle Scholar
Unolt, M, Putotto, C, Silvestri, LM, et al. Transposition of great arteries: new insights into the pathogenesis. Front Pediatr 2013; 1: 17.CrossRefGoogle ScholarPubMed
McCrossan, B, McCay, N. Down syndrome and transposition of the great arteries. Cardiol Young 2017; 27: 16301632.CrossRefGoogle ScholarPubMed
Cua, CL, Rogers, LK, Chicoine, LG, et al. Down syndrome patients with pulmonary hypertension have elevated plasma levels of asymmetric dimethylarginine. Eur J Pediatr 2011; 170: 859863.CrossRefGoogle ScholarPubMed