Bhagya Madhushani De Silva¹, Priyantha Dissanayaka¹, Jeewani Hettiarachchi¹
1- Teaching Hospital Badulla, Sri Lanka
Corresponding Author:
Bhagya Madhushani De Silva (
akroogirl@gmail.com)
Abstract Body
Introduction: Trisomy 18, also known as Edwards syndrome, is autosomal chromosome disorder with extra chromosome at 18. It presents major and minor anomalies that involve almost all the systems in the body while reporting significant morbidity in 1st year of life. Dextrocardia is a congenital deformity due to embryonic formation causing heart residing inright side of thoracic cavity associated with multiple congenital heart defects. Here we describe a rare occasion of dextrocardia associated with Mosaic Trisomy 18.
Case Report: This baby girl delivered at 33+1 weeks with 1.12kg of severe intrauterine growth retardation (IUGR). Antenatal Ultrasound (USS) revealed congenital heart defects and features suggestive of syndrome. Baby received non-invasive ventilation due to persistent respiratory distress. Chest Xray (CXR) showed heart in right side of the chest with normally placed liver. 2D echocardiogram (2D Echo) revealed situs solitus, dextrocardia, atrio ventricular canal defect,and mild pulmonary stenosis. Karyotyping was reported as 47 ,XX,18[37]/46,xx,[2] suggestive of mosaic Edwards Syndrome. Baby expired on day 34 due to heart failure unresponsive to medical management.
Conclusion: Though dextrocardia is a rare occasion, it is suggestive to investigate geneaneuploidy in dextrocardia or dextroposition in a neonate.