Abstract

Atypical Holt-Oram Syndrome Presenting with Renal Agenesis: A Case Report

Holt-Oram syndrome is a rare congenital anomaly; however, it is the most common type of Heart-Hand syndromes. It is characterized by absent radial bone, an Atrial Septal Defect (ASD), most commonly an ostium secumdum type, and heart blocks. This patient was a 17-year male who was having a short right upper limb, absent right thumb, and a supernumerary digit since birth. Recently he had been having dyspnoea on exertion and palpitations and Echocardiography (ECHO) revealed an ostium secundum type of ASD and the patient was referred to our tertiary care centre for the closure of an ASD. On evaluation, his X-ray right arm was suggestive of the absent radial bone. Routine sonography of the abdomen was done to rule out other defects which surprisingly revealed an absent right kidney. His ASD was corrected using a 28 mm closure device under fluoroscopic guidance and the post-procedure course was uneventful. The patient was counseled about his deformity, sensitized with a single functioning kidney, advised on rehabilitation, and discharged. Here we describe a case of atypical Holt-Oram syndrome with a single functioning kidney.

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