AUTHOR=Tuo Giulia , Pini Prato Alessio , Derchi Maria , Mosconi Manuela , Mattioli Girolamo , Marasini Maurizio 

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

JOURNAL=Frontiers in Pediatrics

VOLUME=2

YEAR=2014

URL=https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2014.00099

DOI=10.3389/fped.2014.00099

ISSN=2296-2360

ABSTRACT=<p><bold>Objective:</bold> To define the prevalence and characteristics of associated congenital heart diseases (CHDs) in patients with Hirschsprung’s disease (HSCR).</p><p><bold>Method:</bold> 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.</p><p><bold>Results:</bold> 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.</p><p><bold>Conclusion:</bold> 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.</p>