Atypical Presentation of Holt-Oram syndrome: A Case Report

Singh Panwar, Abhilasha; Taksande, Amar; Saqqaf, Syed Athhar; Meshram, Rewat

doi:10.22038/ijp.2020.53117.4209

Atypical Presentation of Holt-Oram syndrome: A Case Report

Authors

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.

10.22038/ijp.2020.53117.4209

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.

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