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Hirschsprung's Disease and Associated Congenital Heart Defects: A Prospective Observational Study from a Single
Giulia Tuo1, Alessio Pini Prato2, Maria Derchi1
1Department of Pediatric Cardiology, Istituto Giannina Gaslini , Genoa , Italy.
Insights
Congenital heart diseases (CHDs) affect 8.3% of patients with Hirschsprung
Area of Science:
- Pediatric Surgery
- Cardiology
- Medical Genetics
Background:
- Hirschsprung's disease (HSCR) is a congenital condition affecting the large intestine.
- Associated congenital heart diseases (CHDs) are known complications of HSCR.
- Understanding the prevalence and characteristics of CHDs in HSCR patients is crucial for comprehensive care.
Purpose of the Study:
- To determine the frequency and types of CHDs in patients diagnosed with HSCR.
- To characterize the cardiac anomalies associated with Hirschsprung's disease.
Main Methods:
- Prospective observational study of 133 HSCR patients (2010-2013).
- Cardiovascular screening including echocardiography.
- Classification of CHDs as major if requiring intervention.
Main Results:
- 8.3% of HSCR patients had associated heart disease.
- 4.5% had major CHDs requiring surgical repair, primarily septal defects.
- Chromosomal anomalies were present in 4/6 patients with major CHDs.
Conclusions:
- The prevalence of CHDs in HSCR patients is slightly higher than previously reported.
- Routine echocardiography is recommended for all Hirschsprung's disease patients, regardless of chromosomal status.
- Septal defects are the most common major CHDs in this population.
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.
