Photoclinic Diagnosis: Holt-Oram syndrome

A6-year-old female child was consulted for repeated respiratory infections. She was the fourth child of apparently normal parents born as normal delivery. She had normal IQ and no complaint till fifth year of age. There was no family history of any disease and her other siblings were also normal. On P/E, pulse rate was 115 / minute and regular with normal BP, but a right ventricular heave without thrill. S1 was normal but S2 was widely splitted and fixed. A grade 3/6 systolic murmur was audible at the upper left sternal border. There was no positive clinical finding in the respiratory system. P/E of the skeletal system revealed the lack of first fingers in both upper limbs and the lower extremities were normal. ECG showed a normal sinus rhythm with a regular heart rate of 115/minute, right axis deviation, right ventricular hypertrophy; a prominent tall p wave of 3 mm, and incomplete RBBB. Chest radiography showed increased cardiothoracic ratio, enlargement of the right atrium and right ventricle; with increasing pulmonary vascular marking. In radiography of the upper extremities, bony shadows of the first digit in the right and the left hands were not seen. Scaphoid was absent on the right side. Humerus shadow did not appear on both sides. Above-mentioned radiological evidences suggested radial side defect. Doppler echocardiography showed a large atrial septal defect of 22 mm, paradoxical interventricular septal motion and mild pulmonary stenosis, with a pressure gradient of 20 mm per Hg, prolapse of anterior mitral leaflet without any regurgitation. Enlargement of the right atrium and ventricle were seen. Cardiac catheterization and ventriculography confirmed atrial septal defect of secundum type, along with dilatation of the main pulmonary artery and enlargement of the right atrium and ventricle.