Congenital heart disease and associated malformations in children with cleft lip and palate in Pakistan.

Children with cleft lip and palate often have other associated malformations. The reported incidence and types of associated malformations vary between different studies. There is a great paucity of literature on the subject from the region in general and none from Pakistan at all. The purpose of this study was to assess the frequency of associated malformations, particularly congenital heart disease, in children with cleft lip and palate presenting to the Aga Khan University (AKU) and Murshid Hospital (MH). From 1st October 1999 to 31st March 2002, all children with cleft lip and palate who presented to AKU and MH were prospectively enrolled in the study group. Socio-demographic characteristics and a number of other variables were documented. All children underwent a thorough clinical examination and an echocardiogram as part of the study protocol. 123 children formed the study group. Thirty-five (29%) of these children were found to have associated malformations. The most common of these was congenital heart disease, which accounted for 51% of all associated malformations. Thirty percent of cleft palate children had associated anomalies while 27% of cleft lip, with or without cleft palate, children had associated anomalies. There was a significant association between children born of a consanguineous marriage and the risk of associated malformations (p-value: 0.001). Consanguinity was present in 74% of children with associated anomalies as compared to 40% of children with no associated anomaly. Dysmorphic features and the presence of associated anomalies were also significantly associated (p-value: 0.009). Dysmorphic features were present in 46% of children with anomalies as compared to 21% of children with no associated anomaly. Fifty percent of children with associated anomalies had a low birth weight compared to 34% of children with no anomalies, but the difference was not statistically significant. The presence of consanguinity in a child with dysmorphic features should raise the suspicion of an associated anomaly. The likelihood of this being a cardiac defect is high and should be ruled out with a thorough clinical examination, supplemented with an echocardiogram in certain cases.