Congenital cardiac malformations in congenital hypothyroid patients in Isfahan

BACKGROUND: Co ngenital hypothyroidism (C H) often seem s to be associated with other congenital abnormalit ies , mostl y card iac in nature. The aim of thi s study was to determine the pre valence of card iac malformations in pat ients with CH diagnosed during CH sc reening program in Isfahan. METHODS: In this cross-sec tio nal study, cardiac malformations were determined in CH patients were compared to controls using echocardiography. Th e association between cardiac malformations and mean T4 and TSH concentrations, etiology of CH according to radiologic findings and permanent and tran sient CH were studied in CH patients. RESULTS: Overall, 96 and 59 subjects were included in the case and control groups, respectively. Cardiac malformations were present in 30.2% (n = 29) and 15.2% (n = 9) of case and control groups, respectively; i.e. a higher prevalence in CH patients than in controls (P = 0.03). The prevalence of cardiac malformations without patent foramen oval was 6.25% (n = 6) in CH pat ients and 1.7% (n = I) in control group (P = 0.1). There was no significant association between the presence of cardiac malformations and the aforementioned variables. CONCLUSIONS: High prevalence o f cardiac malformations in CH pat ients strongly suggests the potential involvement of genetic factors in the pathogenesis of CH. This emphasizes on the necessity of genetic studies involving CH patients.