Abstract

Holt-Oram Syndrome is an Autosomal Dominant cum rare genetic disorder, with prevalence of 0.95 per 1 lakh population targeting. The TBX-5 gene responsible for upper limb and heart formation. This disorder manifests in the form of skeletal deformities/defects and cardiac abnormalities. It is usually associated with average/normal life span of the patient with/without physical disability thereby impairing the patient’s daily activities. MATERIALS AND METHODS: 42 year old male patient came with the complaints of severe pain abdomen to department of General Surgery, Sapthagiri Institute of Medical Sciences & research centre Bengaluru, in the year 2021. With the clinical presentation, the patient was investigated with Contrast computerized tomography of Abdomen & Thorax and X-ray of left hand. OBSERVATION: Contrast CT Thorax showed presence of Kommerell Diverticulum, Butterfly of thoracic 1st vertebra, Arch of aorta traversing behind tracheal gas shadows was noted. X-Ray of Left hand shows Oligodactyly with prominent ulna length, Elongated phalanges from 2nd to 5th distal phalanges and 5 out of 8 visible carpal bones were noted. Contrast CT abdomen shows Coeliaco-Mesenteric Trunk (common origin of coeliac artery and Superior Mesenteric Artery). CONCLUSION: Wider consensus is required to identify such disorders at an early stage of screening. Existing obstetric care needs to be enhanced in a multifaceted and holistic manner. The requirement of a rare disease register for the Indian population along with strengthening the Indi-Genome Bank needs to be enhanced for personalised medicine.

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