Holt-Oram Syndrome in a family from Eastern Nepal

  • Navaraj Paudel Department of internal medicine, College of medical Sciences, Bharatpur
  • Nikesh Raj Shrestha Department of internal medicine, BPKIHS, Dharan
  • Puru Koirala Department of internal medicine, BPKIHS, Dharan
  • Ram Chandra Kafle Department of internal medicine, BPKIHS, Dharan
  • Niraj Kumar Jaiswal Department of internal medicine, BPKIHS, Dharan
  • Sanjeev Thapa Department of internal medicine, Patan Hospital, Kathmandu
Keywords: congenital heart defects, Holt-OramSyndrome, limb anomalies

Abstract

Holt-Oram Syndrome is an autosomal dominant disorder with complete penetrance characterized by congenital cardiac defects and skeletal abnormalities of the upper limbs. Till now more than 300 cases have been reported showing wide spectrum of clinical signs but to the best of our knowledge, reporting of familial cases from Nepal has not been done. We found Holt-Oram syndrome in a 16 years old male patient with upper limb anomalies who was being evaluated for dyspnea and palpitation. Similar findings were later found in his two siblings. We recommend a thorough physical and cardiac evaluation for patients with limb anomalies who present with cardiac symptoms or history of recurrent pneumonias.

DOI: http://dx.doi.org/10.3126/jaim.v1i2.6530

Journal of Advances in Internal Medicine 2012;01(02):70-72

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Abstract
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Published
2012-07-23
How to Cite
Paudel, N., Shrestha, N., Koirala, P., Kafle, R., Jaiswal, N., & Thapa, S. (2012). Holt-Oram Syndrome in a family from Eastern Nepal. Journal of Advances in Internal Medicine, 1(2), 70-72. https://doi.org/10.3126/jaim.v1i2.6530
Section
Case Reports