Trisomy 21 and Ebstein Anomaly: Diagnosis and Prognosis of a Rare Association

Overview

Journal J Pediatr Genet

Publisher Thieme

Specialty Pediatrics

Date 2021 Dec 1

PMID 34849279

Authors

Gabriela Rangel Brandao

Amanda Thum Welter

Gabriel Dotta Abech

Carla Bastos da Costa Almeida

Caio Seiti Mestre Okabayashi

Kerolainy Alves Gadelha

Paulo Ricardo Gazzola Zen

Rafael Fabiano Machado Rosa

Affiliations

Soon will be listed here.

Abstract

Trisomy 21 is considered the most common chromosomal aneuploidy, and congenital heart disease (CHD) is highly prevalent and relevant to the morbidity and mortality of these patients. Ebstein anomaly (EA) is a rare CHD characterized by tricuspid valve dysplasia with inferior septal leaflet displacement. Herein, we described a patient with trisomy 21 who presented with EA and discuss the association between the two conditions based on a literature review. We conclude that the concomitant occurrence of both conditions is considered to be rare. These individuals are most frequently diagnosed during birth and childhood, and they usually have a good prognosis, as observed with our patient and is typical for EA patients in general. However, it is important to be aware that electrophysiologic anomalies may also be present.

References

Cherry C, DeBord S, Moustapha-Nadler N . Ebstein's anomaly: a complex congenital heart defect. AORN J. 2009; 89(6):1098-110. DOI: 10.1016/j.aorn.2009.03.003. View

Venturini E, Musaio L, STRAZZERI R, Baroni F . [Ebstein's tricuspid anomaly and Down's syndrome. A clinical case report]. Recenti Prog Med. 1992; 83(10):556-8. View

Yuan S . Ebstein's Anomaly: Genetics, Clinical Manifestations, and Management. Pediatr Neonatol. 2016; 58(3):211-215. DOI: 10.1016/j.pedneo.2016.08.004. View

Bauk L, Espinola-Zavaleta N, Munoz-Castellanos L . Ebstein's malformation in the setting of Down's syndrome. Cardiol Young. 2003; 13(4):370-2. View

Silva S, Bruner J, Moore C . Prenatal diagnosis of Down's syndrome in the presence of isolated Ebstein's anomaly. Fetal Diagn Ther. 1999; 14(3):149-51. DOI: 10.1159/000020909. View

Celermajer D, Cullen S, Sullivan I, Spiegelhalter D, Wyse R, Deanfield J . Outcome in neonates with Ebstein's anomaly. J Am Coll Cardiol. 1992; 19(5):1041-6. DOI: 10.1016/0735-1097(92)90291-t. View

Jaiyesimi O, Baichoo V . Cardiovascular malformations in Omani Arab children with Down's syndrome. Cardiol Young. 2007; 17(2):166-71. DOI: 10.1017/S1047951107000078. View

Pavarino Bertelli E, Biselli J, Bonfim D, Goloni-Bertollo E . Clinical profile of children with Down syndrome treated in a genetics outpatient service in the southeast of Brazil. Rev Assoc Med Bras (1992). 2009; 55(5):547-52. DOI: 10.1590/s0104-42302009000500017. View

Cua C, Haque U, Santoro S, Nicholson L, Backes C . Differences in mortality characteristics in neonates with Down's syndrome. J Perinatol. 2017; 37(4):427-431. DOI: 10.1038/jp.2016.246. View

10.

Patorno E, Huybrechts K, Bateman B, Cohen J, Desai R, Mogun H . Lithium Use in Pregnancy and the Risk of Cardiac Malformations. N Engl J Med. 2017; 376(23):2245-2254. PMC: 5667676. DOI: 10.1056/NEJMoa1612222. View

11.

Pepeta L, Clur S . Ebstein's anomaly and Down's syndrome. Cardiovasc J Afr. 2013; 24(9-10):382-4. DOI: 10.5830/CVJA-2013-054. View

12.

Freeman S, Bean L, Allen E, Tinker S, Locke A, Druschel C . Ethnicity, sex, and the incidence of congenital heart defects: a report from the National Down Syndrome Project. Genet Med. 2008; 10(3):173-80. DOI: 10.1097/GIM.0b013e3181634867. View

13.

Silversides C, Kiess M, Beauchesne L, Bradley T, Connelly M, Niwa K . Canadian Cardiovascular Society 2009 Consensus Conference on the management of adults with congenital heart disease: outflow tract obstruction, coarctation of the aorta, tetralogy of Fallot, Ebstein anomaly and Marfan's syndrome. Can J Cardiol. 2010; 26(3):e80-97. PMC: 2851472. DOI: 10.1016/s0828-282x(10)70355-x. View

14.

Benhaourech S, Drighil A, El Hammiri A . Congenital heart disease and Down syndrome: various aspects of a confirmed association. Cardiovasc J Afr. 2016; 27(5):287-290. PMC: 5370349. DOI: 10.5830/CVJA-2016-019. View

15.

Vis J, Duffels M, Winter M, Weijerman M, Cobben J, Huisman S . Down syndrome: a cardiovascular perspective. J Intellect Disabil Res. 2009; 53(5):419-25. DOI: 10.1111/j.1365-2788.2009.01158.x. View

16.

Cyrus C, Cyril E, Cherian K, Kulkarni S, Nallathambi C . Down syndrome with tandem 21;21 rearrangement and Ebstein's anomaly--a case report. Int J Cardiol. 2006; 115(1):e58-60. DOI: 10.1016/j.ijcard.2006.08.059. View

17.

Celermajer D, Dodd S, Greenwald S, Wyse R, Deanfield J . Morbid anatomy in neonates with Ebstein's anomaly of the tricuspid valve: pathophysiologic and clinical implications. J Am Coll Cardiol. 1992; 19(5):1049-53. DOI: 10.1016/0735-1097(92)90293-v. View

18.

Kumar T, Boston U, Knott-Craig C . Neonatal Ebstein Anomaly. Semin Thorac Cardiovasc Surg. 2017; 29(3):331-337. DOI: 10.1053/j.semtcvs.2017.09.006. View

19.

Luxford J, Arora N, Ayer J, Verrall C, Cole A, Orr Y . Neonatal Ebstein Anomaly: A 30-year Institutional Review. Semin Thorac Cardiovasc Surg. 2017; 29(2):206-212. DOI: 10.1053/j.semtcvs.2017.01.012. View

20.

Lupo P, Langlois P, Mitchell L . Epidemiology of Ebstein anomaly: prevalence and patterns in Texas, 1999-2005. Am J Med Genet A. 2011; 155A(5):1007-14. DOI: 10.1002/ajmg.a.33883. View