Cardiology in the Young

Brief Report

Holt–Oram syndrome with aortopulmonary window – a rare association

Sunil K. Srinivasa1 c1, Vijayalakshmi I. Balekundria2 and Cholenahally N. Manjunatha3

a1 Department of Cardiology, Sri Jayadeva Institute of Cardiovascular Sciences and Research, Bangalore, Karnataka, India

a2 Department of Pediatric Cardiology, Sri Jayadeva Institute of Cardiovascular Sciences and Research, Bangalore, Karnataka, India

a3 Department of Cardiology, Sri Jayadeva Institute of Cardiovascular Sciences and Research, Bangalore, Karnataka, India

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.

(Received March 05 2013)

(Accepted September 22 2013)

Keywords

  • Holt–Oram syndrome;
  • aortopulmonary window;
  • atrial septal defect

Correspondence

c1 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: sunilbmc98@gmail.com