摘要：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.
