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Open Access Congenital cardiac malformations in congenital hypothyroid patients in Isfahan

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BACKGROUND: Congenital hypothyroidism (CH) often seems to be associated with other congenital abnormalities, mostly cardiac in nature. The aim of this study was to determine the prevalence of cardiac malformations in patients with CH diagnosed during CH screening program in Isfahan. METHODS: In this cross-sectional study, cardiac malformations were determined in CH patients were compared to controls using echocardiography. The association between cardiac malformations and mean T4 and TSH concentrations, etiology of CH according to radiologic findings and permanent and transient 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 patients and 1.7% (n = 1) in control group (P = 0.1). There was no significant association between the presence of cardiac malformations and the aforementioned variables. CONCLUSIONS: High prevalence of cardiac malformations in CH patients strongly suggests the potential involvement of genetic factors in the pathogenesis of CH. This emphasizes on the necessity of genetic studies involving CH patients. KEY WORDS: Congenital hypothyroidism, cardiac malformations, genetics.
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Document Type: Research Article

Publication date: January 1, 2006

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