A prospective observational study of associated anomalies in hirschsprung’s disease

Abstract

Background: Hirschsprung’s Disease (HSCR) is the commonest congenital gut motility disorder and is characterized by the absence of ganglion cells in a variable length of the distal gut. According to literature , HRSCD may be associated with a chromosomal abnormality or other congenital anomalies in approximately 20% of cases HSCR appeared to be a multifactorial malformation with low, sex dependent penetrance and variable expression according to the length of the a ganglionic segment, suggesting the involvement of one or more gene (s) with low penetrance. So far, eight genes have been found to be involved in HSCR. This frequent congenital malformation now stands as a model for genetic disorders with complex patterns of inheritance. The objective of this study was to collect and study personal and family history and any information regarding known associated anomalies in patients diagnosed as Hirschsprung's disease.Methods: Here author present a series of 89 consecutive HSCR patients who were admitted or attended the Pediatric Surgery OPD of in a tertiary care Government medical college, who were evaluated for associated malformations with the help of available non-invasive investigation.Results: Congenital heart diseases and Down’s syndrome were the two most common associated anomalies. Genitourinary anomalies, Limb anomalies and central nervous system anomalies were other associated anomalies. Conclusions: This study confirmed the underestimation of certain associated anomalies in Hirschsprung patients, such as CNS anomalies. Based on the results of this study, in addition to meticulous general examination author suggest performing cardiologic assessment in patients diagnosed with Hirschsprung’s disease based on clinical features and according to the standards of care adopted for the general population.

Structural heart defects associated with ETB mutation, a cause of Hirschsprung disease

“…Concurrent developmental anomalies occurred in up to 30% of HSCR patients, five to eight percent of whom suffer congenital heart diseases (CHD) [28]. While CHD occurred in only three percent of non-syndromic HSCR infants, the prevalence of CHD in chromosomal HSCR patients is remarkably high, ranging from 20 to 80%, with cardiac septal defects being the most common anomalies [5].…”

Structural impairments of the heart associating with ETB mutation, a cause of Hirschsprung disease

“…Up to 30% of HSCR patients exhibit developmental anomalies. Congenital heart diseases (CHD) accounted for 5-8% (72). While only 3% of CHD occurred in non-syndromic HSCR infants, the prevalence of CHD associated with chromosomal HSCR patients was remarkably high, ranging from 20 to 80%, with cardiac septal defects being the most common anomalies (26).…”

Health-Related Quality of Life and Psychosocial Morbidity in Anorectal Malformation and Hirschsprung's Disease

“…Overall, 50% of ARM and 58% of HD patients have associated anomalies. 45,46 In patients with ARM, cardiac (32%), genitourinary (18%), vertebral/spinal (10%), musculoskeletal (4%), and gastrointestinal/abdominal (3%) systems are most commonly affected. 47 Ten percent present with a VACTERL (vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities) association.…”

“…50 In patients with HD, 43% complain of ophthalmologic issues (mostly refraction anomalies), 9% of visual impairment, 21% of congenital anomalies of the kidney and urinary tract, 5% of congenital heart disease, 5% of hearing impairment or deafness, 2% of central nervous system anomalies, 9% of chromosomal abnormalities or syndromes, and 12% of other associated anomalies. 46 HD patients with syndromal intellectual disability (n ¼ 18) had a higher prevalence of antegrade continence enema (28 vs. 7%), recurrent episodes of enterocolitis (72 vs. 38%), and lower fecal control than patients without. 13 An associated diagnosis of Down's syndrome and/or cardiac anomaly also correlated with a significantly lower physical as well as psychosocial HrQoL in 60 Australian HD patients.…”