Skip to main content
    • Aa
    • Aa

Holt–Oram syndrome with aortopulmonary window – a rare association

  • Sunil K. Srinivas (a1), Vijayalakshmi I. Balekundri (a2) and Cholenahally N. Manjunath (a3)

A 4-month-old male infant presented with recurrent cough for 2 months. He had a shortened right upper limb with absent right thumb and continuous murmur in the left parasternal area. The X-ray showed an absent radius and the first metacarpal and phalyngeal bones on the right side. Echocardiogram revealed aortopulmonary window and small secundum atrial septal defect. Aortopulmonary window was successfully treated by device closure. Holt–Oram syndrome with aortopulmonary window is an extremely rare association.

Corresponding author
Correspondence to: Dr S. K. Srinivas, MD, Fellow, Department of Cardiology, Sri Jayadeva Institute of Cardiovascular Sciences and Research, Bangalore, Karnataka 560069, India. Tel: +91-80-26650031; Fax: +91-80-22977422; E-mail:
Hide All
1. HuangT. Current advances in Holt–Oram syndrome. Curr Opin Pediatr 2002; 14: 691695.
2. HoltM, OramS. Familial heart disease with skeletal malformations. Br Heart J 1960; 22: 236242.
3. BassonCT, CowleyGS, SolomonSD, et al. The clinical and genetic spectrum of the Holt‑oram syndrome (heart-hand syndrome). N Engl J Med 1994; 330: 885891.
4. AqrabawiHE, SweittyT, QuwarM. Holt–Oram syndrome: a case report at King Hussein Medical Center. JRMS 2006; 13: 5253.
5. AlizadA, SewardJB. Echocardiographic features of genetic diseases. J Am Soc Echocardiogr 2000; 13: 248253.
6. LinAE, PerloffJK. Upper limb malformations associated with congenital heart disease. Am J Cardiol 1985; 55: 15761583.
7. BruneauBG, LoganM, DavisN, et al. Chamber-specific cardiac expression of TBX5 and heart defects in Holt–Oram syndrome. Dev Biol 1999; 211: 100108.
8. SlettenLJ, PierpontME. Variation in severity of cardiac disease in Holt–Oram syndrome. Am J Med Genet 1996; 65: 128132.
9. AwniAl‑Madani. The Holt–Oram syndrome with double outlet right ventricle with valvular and subvalvular pulmonary stenosis. Kuwait Med J 2008; 40: 315317.
10. UlrichU, SchrickelJ, DornC, et al. Mayer–von Rokitansky–Küster–Hauser syndrome in association with a hitherto undescribed variant of the Holt–Oram syndrome with an aorto‐pulmonary window. Hum Reprod 2004; 19: 12011203.
Recommend this journal

Email your librarian or administrator to recommend adding this journal to your organisation's collection.

Cardiology in the Young
  • ISSN: 1047-9511
  • EISSN: 1467-1107
  • URL: /core/journals/cardiology-in-the-young
Please enter your name
Please enter a valid email address
Who would you like to send this to? *



Altmetric attention score

Full text views

Total number of HTML views: 3
Total number of PDF views: 8 *
Loading metrics...

Abstract views

Total abstract views: 121 *
Loading metrics...

* Views captured on Cambridge Core between September 2016 - 21st October 2017. This data will be updated every 24 hours.