Is There an Association between Ocular Pathology and Congenital Heart Defects in Patients with Down Syndrome?

Author(s): Nemes-Dragan IA* and Ana-Maria D

Background: Additional chromosomal material dictates the severity of craniofacial dysmorphism, intellectual disability and associated pathologies, mostly Congenital Heart Defects (CHD). High geographical and seasonal fluctuation in CHD has been reported. The presence of type VI collagen both in ocular and cardiac tissue may be the reason for an association between ocular and cardiac disease. Methods & Materials: We conducted a prospective study on 54 patients with Down syndrome. Patients were recruited from Genetics Department, between December 2018 and January 2020. All patients underwent a complete eye examination by a general ophthalmologist and a cardiologic evaluation. Results: Congenital heart defects were present in 57% of the DS patients. The most common defect was the interatrial communication present in 7 (14%) of the patients followed by the Fallot tetralogy and a defect in the atrioventricular sept in 6 patients (12%). Astigmatism was the most frequent cause of decreased visual acuity in DS patients with congenital heart. Conclusion: The results of our study did not identify specific associations, with statistical significance, between ophthalmic and cardiac pathology in patients with DS


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