Cardiovascular malformations associated with imperforate anus
Greenwood, R.D.; Rosenthal, A.; Nadas, A.S.
Journal of Pediatrics 86(4): 576-579
1975
ISSN/ISBN: 0022-3476 PMID: 1127505 Document Number: 84770
The expected incidence of IA (imperforate anus) is 1:5000 births and that of congenital heart disease is 6:1000. Cardiovascular malformations (CVM) were detected in 26 of 222 infants with IA; the incidence of CVM in IA is 20 times greater than expected. Varying degrees of embryonal defects in the formation of the caudal region may produce IA and the spectrum of lower limb, vertebral and genitourinary anomalies. The explanation for the definite association with CVM is not known. CVM occurred in infants with isolated IA, as part of a recognizable syndrome (cat eye and Down) and when IA was associated with other gastrointestinal defects or skeletal anomalies. CVM were not present in infants with IA and other low midline defects (exstrophy, cloacal exstrophy, meningomyelocele) although they have been previously described. The most common cardiac lesions encountered were tetralogy of Fallot and ventricular septal defect. Compared to the expected frequency of tetralogy of Fallot, the association of tetralogy and IA (9 of 33) is significant (P < 0.001). Complex cardiac lesions were generally infrequent. This is not surprising since complex forms of congenital heart defects (e.g., hypoplastic left heart and transposition of the great vessels) are rarely associated with extracardiac anomalies. IA may be an isolated lesion or associated with a variety of malformations and syndromes. In patients with a recognizable syndrome, the CVM present is usually the lesion characteristic of that syndrome. The overall mortality rate of infants with IA is 12-30% and associated anomalies are frequently the cause of death; in 112 deaths evaluated, 78 were due to the associated malformations. CVM are among the common associated anomalies which contribute significantly to the high mortality rate of infants with IA. The need for cardiac surgery in early infancy in many patients with tetralogy of Fallot and IA is indicative of the severity of the associated cardiac disease. Since both IA and the CVM present in most infants are readily amenable to surgical treatment, the survival rate should increase with a more aggressive surgical approach.