Holt-Oram syndrome with aortopulmonary window--a rare association

Cardiol Young. 2014 Oct;24(5):947-9. doi: 10.1017/S1047951113001844. Epub 2013 Oct 14.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Aortopulmonary Septal Defect / diagnosis*
  • Aortopulmonary Septal Defect / surgery
  • Cardiac Surgical Procedures / methods
  • Diagnosis, Differential
  • Echocardiography / methods*
  • Electrocardiography
  • Heart Defects, Congenital / diagnosis*
  • Heart Septal Defects, Atrial / diagnosis*
  • Humans
  • Infant
  • Lower Extremity Deformities, Congenital / diagnosis*
  • Male
  • Radiography, Thoracic
  • Upper Extremity Deformities, Congenital / diagnosis*

Supplementary concepts

  • Holt-Oram syndrome