Clinical features of Hirschsprung's disease associated with Down syndrome: a 30-year retrospective nationwide survey in Japan

Ieiri, Satoshi; Higashi, Michiyo; Teshiba, Risa; Saeki, Isamu; Esumi, Genshiro; Akiyoshi, Junko; Nakatsuji, Takanori; Taguchi, Tomoaki

doi:10.1016/j.jpedsurg.2009.07.055

Cited by 26 publications

(15 citation statements)

References 11 publications

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“…Five out of eight patients (62%) with HSCR and Down’s syndrome presented also an associated CHD that required a surgical intervention in three cases. In 2009, the 30-years retrospective nationwide survey carried out in Japan showed an increased incidence of Down’s syndrome in patients affected by HSCR and interestingly also an increased incidence of associated cardiac anomalies in the last 10 years (27). We believe it is worth noting that Down’s syndrome patients affected by HSCR presented a higher incidence of associated CHD than that previously reported in the overall Down’s syndrome population (mean 40%) (3, 27).…”

Section: Discussionmentioning

confidence: 99%

Hirschsprungâ€™s Disease and Associated Congenital Heart Defects: A Prospective Observational Study from a Single Institution

et al. 2014

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Objective: To define the prevalence and characteristics of associated congenital heart diseases (CHDs) in patients with Hirschsprung’s disease (HSCR).Method: All patients with a histological diagnosis of HSCR admitted to our hospital between January 2010 and December 2013 were included in this prospective observational study and underwent cardiovascular screening. Cardiac anatomy was assessed by a segmental echocardiographic approach. Measurements of aortic root and left ventricular dimensions, wall thickness, and function were obtained. CHDs requiring a percutaneous or surgical intervention were described as major heart diseases.Results: One hundred thirty-three consecutive patients were enrolled at median age of 2.3 years. Eleven patients (8.3%) presented an associated heart disease. Moreover, five patients had mild dilatation of aortic root. Six out of 11 (4.5%) patients had a major CHDs requiring surgical repair.Conclusion: Prevalence of associated CHDs was slightly higher than in previous papers, and mostly represented by septal defects. Four out of six patients with major heart disease had also a chromosomal anomaly. If we do not consider the subpopulation of patients with a chromosomal anomaly, cardiac defects were present in 3.8% of the patients. Based on these results, we suggest to perform routine echocardiogram in all Hirschsprung patients, with or without associated chromosomal syndromes.

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Section: Discussionmentioning

confidence: 99%

Hirschsprungâ€™s Disease and Associated Congenital Heart Defects: A Prospective Observational Study from a Single Institution

et al. 2014

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“…(19) Similarly, HD and Trisomy-21 have a known association with 2.9 to 8.2% of HD patients also having Trisomy-21. (4, 20-22) Children with Down’s syndrome and HD are at significantly higher risk of developing HAEC with an incidence as high as 50%. (6, 23) An incidence of HAEC as high as 48% has been identified in in HD patients with Trisomy-21 compared to a 25% incidence in those without Trisomy 21.…”

Section: Early Diagnosismentioning

confidence: 99%

Hirschsprung-associated enterocolitis: prevention and therapy

Frykman

Short

2012

Seminars in Pediatric Surgery

163

112

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Hirschsprung-associated enterocolitis (HAEC) remains the greatest cause of morbidity and mortality in children with Hirschsprung disease. This chapter details the various approaches used to treat and prevent this disease process. This includes prevention of complications such as stricture formation, prophylaxis with rectal washouts and identification of high risk individuals. The chapter also details approaches to diagnose HAEC as well as to exclude other etiologies.

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“…The association between Down syndrome (DS) and Hirschsprung disease (HD) is well established. [1][2][3][4][5][6] Between 5 and 10% of patients with DS are found to have a concomitant diagnosis of HD, an incidence nearly 50 times higher than patients without DS. 7,8 A complete understanding of the genetic link between DS and HD is lacking, although a genetic modifier on chromosome 21q22 has been proposed.…”

Section: Introductionmentioning

confidence: 99%

Does Hirschsprung-Associated Enterocolitis Differ in Children With and Without Down Syndrome?

Halleran

Ahmad

Maloof

et al. 2020

Journal of Surgical Research

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Clinical features of Hirschsprung's disease associated with Down syndrome: a 30-year retrospective nationwide survey in Japan

Cited by 26 publications

References 11 publications

Hirschsprungâ€™s Disease and Associated Congenital Heart Defects: A Prospective Observational Study from a Single Institution

Hirschsprungâ€™s Disease and Associated Congenital Heart Defects: A Prospective Observational Study from a Single Institution

Hirschsprung-associated enterocolitis: prevention and therapy

Does Hirschsprung-Associated Enterocolitis Differ in Children With and Without Down Syndrome?

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