Authors

• Abhilasha Singh Panwar ¹
• Amar Taksande ²
• Syed Athhar Saqqaf ³
• Rewat Meshram ⁴

¹ R, MBBS, Pediatrics Resident, Deptt. of Paediatrics, Jawaharlal Nehru Medical College, Sawangi Meghe, Wardha, Maharashtra : 442004, India.

² MD, FIAE, Fellow in Ped Card., Professor, Deptt. of Paediatrics, Jawaharlal Nehru Medical College, Sawangi Meghe, Wardha, Maharashtra : 442004, India.

³ MBBS, Pediatrics Resident, Deptt. of Paediatrics, Jawaharlal Nehru Medical College, Sawangi Meghe, Wardha, Maharashtra : 442004, India.

⁴ MD, Associate Professor, Deptt of Paediatrics, Jawaharlal Nehru Medical College, Sawangi Meghe, Wardha, Maharashtra: 442004, India.

Abstract

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.

Keywords

• Child
• Heart-hand syndrome
• Holt-Oram syndrome
• ventricular septal defect