Prevalence and Association of Congenital Heart Disease with Hirschsprung’s Disease
DOI:
https://doi.org/10.33192/smj.v76i9.268293Keywords:
Hirschsprung, cardiac screening, neurocristopathy, echocardiographyAbstract
Objective: Neurocristopathies play a role as pathogenesis of Hirschsprung’s disease and congenital heart diseases (CHDs). This study seeks to identify concomitant deformities, syndromes, and/or associations associated with Hirschsprung’s disease warrant evaluation for CHDs through echocardiography.
Materials and Methods: A retrospective analysis was conducted on Hirschsprung’s disease patients at Siriraj Hospital between January 2006 and December 2022. Echocardiograms were performed when clinical symptoms, abnormal chest X-rays (CXR), desaturation, heart murmurs raised suspicions of cardiovascular anomalies.
Results: Among 299 Hirschsprung’s disease patients, 43 (14.4%) exhibited CHDs. The sensitivity of CXR (n=268) and echocardiograms (n=51) in diagnosing CHDs was 48.8% and 100%, respectively. Predominant CHD presentations included patent ductus arteriosus (n=29), atrial septal defects (n=18), and ventricular septal defects (n=15). The presence of concomitant deformities, syndromes and/or associations associated with Hirschsprung’s disease significantly heightened the likelihood of concurrent CHDs (Odds ratio = 23.56, p < 0.001). Patients with Hirschsprung’s disease and concomitant deformities (n=28) (excluding syndromic or chromosomal abnormalities) had 1.73 times the odds of CHDs (p = 0.262) compared to those without concomitant deformities. Patients with Hirschsprung’s disease and Down syndrome (n=34) exhibited 77.78 times higher odds of CHDs (p < 0.001), while those with other syndromes and/or associations (n=6) had 13.03 times higher odds of CHDs (p = 0.005) compared to patients lacking these conditions.
Conclusion: CHDs were identified in 14.4% of Hirschsprung’s disease patients. Echocardiograms should be selectively employed in Hirschsprung’s disease associated with Down syndrome, other syndromes, or concomitant deformities.
References
Klein M, Varga I. Hirschsprung’s disease-recent understanding of embryonic aspects, etiopathogenetic and future treatment avenues. Medicina (Kaunas). 2020;56:611.
Dasgupta R, Langer JC. Hirschsprung disease. Curr Probl Surg. 2004;41(12):942-88.
Kenny SE, Tam PKH, Garcia-Barcelo M, Phil M. Hirschsprung’s disease. Semin Pediatr Surg. 2010;19(3):194-200.
Bolande RP. The neurocristopathies; a unifying concept of disease arising in neural crest maldevelopment. Hum Pathol. 1973;5(4):409-29.
Whitehouse F, Kernohan J. Myenteric plexuses in congenital megacolon; study of 11 cases. Arch Intern Med. 1948;82(1):75-111.
Moore SW. The contribution of associated congenital anomalies in understanding
Hirschsprung’s disease. Pediatr Surg Int. 2006;22(4):305-15.
Duess JW, Puri P. Syndromic Hirschsprung’s disease and associated congenital
heart disease: a systematic review. Pediatr Surg Int. 2015;31:781-5.
Tuo G, Pini Prato A, Derchi M, Mosconi M, Mattioli G, Marasini M. Hirschsprung’s disease and associated congenital heart defects: a prospective observational study from a single institution. Front Pediatr. 2014;2(99):1-4.
Ahola JA, Koivusalo A, Sairanen H, Jokinen E, Rintala RJ, Pakarinen MP. Increased incidence of Hirschsprung’s disease in patients with hypoplastic left heart syndrome-a common neural crest-derived etiology? J Pediatr Surg. 2009;44:1396-400.
Erhardt S, Zheng M, Zhao X, Le TP, Findley TO, Wang J. The cardiac neural crest cells in heart development and congenital heart defects. J Cardiovasc Dev Dis. 2021;8(8):89.
Chawanpaiboon S, Chuchotirot M, Sutantawiboon A, Sunsaneevithayakul P, Tontisirin P. Fetal Abnormalities in the Fetal Anomaly Clinic at Siriraj Hospital. Siriraj Med J 2002;54(9):525-32.
George RM, Maldonado-Velez G, Firulli AB. The heart of the neural crest: cardiac neural crest cells in development and regeneration. Development. 2020;147:dev.188706.
Prato AP, Rossi V, Mosconi M, Holm C, Lantieri F, Griseri P, et al. A prospective observational study of associated anomalies in Hirschsprung’s disease. Orphanet J Rare Dis. 2013;8(184):1-12.
Russell MB, Russell CA, Niebuhr E. An epidemiological study of Hirschsprung’s disease and additional anomalies. Acta Paediatr. 1994;83:68-71.
Mery CM, De Leon LE, Rodriguez JR, Nieto RM, Zhang W, Adachi I, et al. Effect of gastrointestinal malformations on the outcomes of patients with congenital heart disease. Ann Thorac Surg. 2017;104:1590-6.
Hasserius J, Hedbys J, Graneli C, Hagelsteen K, Stenstrom P. Treatment and patient reported outcome in children with Hirschsprung disease and concomitant congenital heart disease. Biomed Res Int. 2017:1-8
Martucciello G, Pini Prato A, Puri P, Holschneider AM, Meier-Ruge W, Jasonni V, et al. Controversies concerning diagnostic guidelines for anomalies of the enteric nervous system: a report from the fourth International Symposium on Hirschsprung’s disease and related neurocristopathies. J Pediatr Surg. 2005;40(10):1527-31.
Mitchell SC, Korones SB, Berendes HW. Congenital heart disease in 56,109 births. Incidence and natural history. Circulation. 1971;43:323-32.
Sanphasitvong V, Jim LY, Tantiwonglkosri K. Impact of accuracy of preoperative transthoracic echocardiography on complex congenital heart surgery in pediatrics. Siriraj Med J 2019;70(6):480-5.
Hoffman JIE, Kaplan S. The incidence of congenital heart disease. J Am Coll Cardiol 2002;39(12):1890-900.
Wu Y, Zhu Y, Zhang X, Feng J, Xia H, Zhang Y, et al. Associated congenital heart disease with Hirschsprung's disease: a retrospective cohort study on 2,174 children. Front Cardiovasc Med. 2023;10:1215473. DOI 10.3389/fcvm.2023.1215473.
Panza E, Knowles CH, Graziano C, Thapar N, Burns AJ, Seri M, et al. Genetics of human enteric neuropathies. Prog Neurobiol. 2012;96(2):176-89.
Amiel J, Sproat-Emison E, Garcia-Barcelo M, Lantieri F, Burzynski G, Borrego S, et al. Hirschsprung disease, associated syndromes and genetics: a review. J Med Genet. 2008;45(1):1-14.
Tam PK, Garcia-Barcelo M. Molecular genetics of Hirschsprung’s disease. Semin Pediatr Surg. 2004;13(4):236-48.
York JR, McCauley DW. The origin and evolution of vertebrate neural crest cells. Open Biol. 2020;10:190285.
Brandon AA, Almeida D, Powder KE. Neural crest cells as a source of microevolutionary variation. Semin Cell Dev Biol. 2022;145:42-51.
Puri P, Montedonico S. In Holschneider AM, Puri P, eds. Hirschsprung’s disease
and allied disorders, 3rd ed, 2008. Springer, Berlin, pp 107-13.
Ieiri S, Higashi M, Teshiba R, Saeki I, Esumi G, Akiyoshi J, et al. Clinical features of Hirschsprung’s disease associated with Down syndrome: a 30-year retrospective nationwide survey in Japan. J Pediatr Surg. 2009;44(12):2347-51.
Prato AP, Arnoldi R, Sgro A, Felici E, Racca F, Nozza P, et al. Hirschsprung disease and Down syndrome: from the reappraisal of risk factors to the impact of surgery. J Pediatr Surg. 2019;54:1838-42.
Moore SW. Advances in understanding the association between Down syndrome and Hirschsprung disease (DS-HSCR). Pediatr Surg Int. 2018;34:1127–37.
Antonarakis SE, Skotko BG, Rafii MS, Strydom A, Pape SE, Bianchi DW, et al. Down syndrome. Nat Rev Dis Primers. 2020;6:9.
Asim A, Kumar A, Muthuswamy S, Jain S, Agarwal S. Down syndrome: an insight of the disease. J Biomed Sci. 2015; 22:41.
Friedmacher F, Puri P. Hirschsprung’s disease associated with Down syndrome: a meta-analysis of incidence, functional outcomes and mortality. Pediatr Surg Int. 2013;29(9):937-48.
Bonnard A, Zeidan S, Degas V, Viala J, Baumann C, Berrebi D, et al. Outcomes of Hirschsprung’s disease associated with Mowat-Wilson syndrome. J Pediatr Surg. 2009;44(3):587-91.
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