A Case Report on Holt Oram Syndrome

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.

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Published

23-11-2022

Issue

Vol. 72 No. SUPPL-3 (2022): November(AFIC)

Section

Case Reports

How to Cite

1.
Khan AN, Malik ES, Anwar SO, Mahmood A, Khan JA. A Case Report on Holt Oram Syndrome. Pak Armed Forces Med J [Internet]. 2022 Nov. 23 [cited 2024 Oct. 2];72(SUPPL-3):S645-47. Available from: https://pafmj.org/PAFMJ/article/view/9573
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