title: 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).
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Pediatric Cardiology, Istituto Giannina Gaslini , Genoa , Italy.
authors.forename: Giulia
authors.initials: G
authors.lastname: Tuo
authors.affiliation: Department of Pediatric Surgery, Istituto Giannina Gaslini , Genoa , Italy.
authors.forename: Alessio
authors.initials: A
authors.lastname: Pini Prato
authors.affiliation: Department of Pediatric Cardiology, Istituto Giannina Gaslini , Genoa , Italy.
authors.forename: Maria
authors.initials: M
authors.lastname: Derchi
authors.affiliation: Department of Pediatric Surgery, Istituto Giannina Gaslini , Genoa , Italy.
authors.forename: Manuela
authors.initials: M
authors.lastname: Mosconi
authors.affiliation: Department of Pediatric Surgery, Istituto Giannina Gaslini , Genoa , Italy ; Department of Neuroscience, Ophthalmology, Rehabilitation, Genetics and Maternal-Infant Science (DINOGMI), University of Genoa , Genoa , Italy.
authors.forename: Girolamo
authors.initials: G
authors.lastname: Mattioli
authors.affiliation: Department of Pediatric Cardiology, Istituto Giannina Gaslini , Genoa , Italy.
authors.forename: Maurizio
authors.initials: M
authors.lastname: Marasini
keywords: Hirschsprung’s disease; cardiac screening; congenital heart disease; echocardiography; neurocristopathy