A Case Report on Holt Oram Syndrome
DOI:
https://doi.org/10.51253/pafmj.v72iSUPPL-3.9573Keywords:
ASD, Congenital heart defects, Holt Oram syndrome, TBX5 Gene, VSDAbstract
Holt Oram Syndrome (HOS) falls in rare prevalence category with probability of 0.7 in 100,000 live births. It is a rare autosomal dominant multiple malformation syndrome characterized by abnormalities affecting hands, wrists, arms,congenital heart defects and/or conduction problems. Genetic mutations observed in TBX5 gene is attributed as the main cause of HOS. Our patient in his late 40s was diagnosed with Holt Oram Syndrome. He presented with typical conditions of congenital heart abnormalities (ASD) and upper limb malformations.