Hirschsprung’s Disease and Associated Congenital Heart Defects: A Prospective Observational Study from a Single Institution

Abstract

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.

An embryological point of view on associated congenital anomalies of children with Hirschsprung disease

“…According to Spouge and Baird (59), the cardiovascular anomalies are one of the most frequent additional anomalies found in HSCR patients, occurring in 5.6 % of cases. Approximately half of HSCR patients with associated congenital heart disease had major heart defect requiring surgical repair (60). The etiology of combined HSCR and heart defects is in the common progenitor neural crest cells important for normogenesis of the heart and enteric nervous system.…”

Syndromic Hirschsprung’s disease and associated congenital heart disease: a systematic review

“…During the time period from 1963 to 2014, fifty-two publications reported data on infants with HD associated with CHD [1,2,. In infants without chromosomal disorders, the reported prevalence of HD associated with CHD ranged from 1 to 13 %, giving an overall prevalence of 3 % [2, 9, 12, 13, 16-18, 20, 24, 27-32, 34-37, 39-41, 45, 47-58].…”

“…Although HD occurs as an isolated defect in at least 70 %, a number of associated congenital abnormalities and associated syndromes have been reported in up to 30 % of infants, demonstrating a spectrum of congenital anomalies, including distal limb, sensorineural, skin, central nervous system, genital, kidney and cardiac malformations [1,2,8].…”

“…Hirschsprung's disease (HD) is one of the most common congenital gut motility disorders in the newborn, characterized by the absence of ganglion cells in the hindgut with variable distal bowel involvement [1,2]. The incidence of HD is approximately 1 in 5000 live births.…”

“…Thus, normal development of the cardiac outflow septation is closely related to the cells which proliferate into the primitive gut to form the enteric ganglia [8]. HD associated with congenital heart disease (CHD) has been reported in 5-8 % of cases, with septation defects being the most frequently recorded abnormalities [2,8]. However, the prevalence of HD associated with CHD in infants with chromosomal disorders is not well documented.…”