Dysmorphic Features, Consanguinity and Cytogenetic Pattern of Congenital Heart Diseases: a pilot study from Mansoura Locality, Egypt

Background: Congenital heart diseases (CHD) constitute a common cause of birth defects with a multifactorial inheritance background. Objectives: to check for the dysmorphic features, consanguinity and cytogenetic pattern that may be associated with congenital heart disease in Egyptian cases from Mansoura, Egypt. Methods: This work is a pilot prospective controlled study including randomly selected 69 cases affected with congenital heart disease recruited from the Pediatric Cardiology Department, Mansoura University, Egypt. These cases were compared to 500 normal children of matched age and sex taken from the same locality serving as a control group. Complete history taking, clinical examination for dysmorphic features as well as cardiac examination were carried out for all subjects. Furthermore, cases were evaluated by Echocardiography and cytogenetic studies. Results: Egyptian children affected with CHD were significantly associated with positive family history of CHD, perinatal history of maternal diseases or drug intake during pregnancy and positive parental consanguinity (odds ratio = 10.5, 7.6 and 3.1 respectively). Significant associated dysmorphic features included ear anomalies, eye anomalies, cleft lip, polydactyly and cleft palate (odds ratio = 217.6, 176.6, 68.7 and 37.07 respectively). Seven cases (10.1%) had chromosomal aberrations and were associated with dysmorphic features. Conclusion: Risk of CHD increased with positive family history and consanguinity. Cytogenetic studies added to dysmorphic features seem to have an important clue for early diagnosis of CHD.