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. 2014 Sep 17:2:99.
doi: 10.3389/fped.2014.00099. eCollection 2014.

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

Giulia Tuo  1 , Alessio Pini Prato  2 , Maria Derchi  1 , Manuela Mosconi  2 , Girolamo Mattioli  3 , Maurizio Marasini  1
Affiliations

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

Giulia Tuo et al. Front Pediatr. .

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.

Keywords: Hirschsprung’s disease; cardiac screening; congenital heart disease; echocardiography; neurocristopathy.

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