Atypical Presentation of Holt-Oram syndrome: A Case Report

Holt-Oram syndrome (HOS) is an autosomal dominant disorder, a mutation in TBX5 gene located on chromosome 12 (12q24.1) involving the upper limb and the heart, causing malformations like atrial septal defect. Herein, we report a rare case of HOS with atrial septal defect and ventricular septal defect with severe pulmonary arterial hypertension in a three-year-old child.

Automated summary

Holt-Oram syndrome is an autosomal dominant disorder caused by a mutation in the TBX5 gene, leading to malformations in the upper limb and heart such as atrial septal defect. We present a rare case of HOS in a three-year-old child with atrial septal defect, ventricular septal defect, and severe pulmonary arterial hypertension.