A Case Report on Holt Oram Syndrome

Ali Nawaz Khan; Erum Shahzadi Malik; Syed Onaiz Anwar; Amjad Mahmood; Jamal Azfar Khan

doi:10.51253/pafmj.v72iSUPPL-3.9573

Authors

Ali Nawaz Khan Pakistan Naval Ship (PNS) Shifa Hospital, Karachi Pakistan
Erum Shahzadi Malik Pakistan Naval Ship Shifa Hospital, Karachi, Pakistan
Syed Onaiz Anwar Pakistan Naval Ship (PNS) Shifa Hospital, Karachi Pakistan
Amjad Mahmood Pakistan Naval Ship (PNS) Shifa Hospital, Karachi Pakistan
Jamal Azfar Khan Pakistan Naval Ship (PNS) Shifa Hospital, Karachi Pakistan

DOI:

https://doi.org/10.51253/pafmj.v72iSUPPL-3.9573

Keywords:

ASD, Congenital heart defects, Holt Oram syndrome, TBX5 Gene, VSD

Abstract

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.