Case report

A 4-month-old male infant presented with hurried breathing and recurrent cough of 2 months’ duration. He was born at term to a 24-year-old primigravida with no significant antenatal history. On examination, the baby was active, weighed 6 kg, and had a heart rate of 138/minute and blood pressure of 90/60 mmHg in the left upper limb. Systemic oxygen saturation was 98% at ambient room air. Musculoskeletal examination revealed shortened mid segment of the right upper limb with flexion deformity of the elbow, radial deviation of the hand, and absent right thumb (Fig 1a). On auscultation, he had a continuous murmur in the left upper sternal border. Electrocardiogram showed sinus rhythm with normal axis and biventricular hypertrophy (Fig 1b). Chest X-ray revealed situs solitus, cardiomegaly, and pulmonary plethora (Fig 1c). X-ray of the right upper limb showed hypoplastic ulna with absence of the radius, first metacarpal and phalangeal bones (Fig 1d). There were no abnormalities in the other limbs (Fig 1e). Two-dimensional transthoracic echocardiogram revealed dilated left atrium and ventricle (Supplementary Video 1) with a 2 mm defect in the aortopulmonary septum (Fig 2a, arrowhead, Supplementary Video 2). Colour Doppler showed left-to-right shunt across the defect in both systole and diastole (Fig 2a, Supplementary Video 2). Continuous wave Doppler revealed both systolic and diastolic gradients across the defect with systolic gradient of 71 mmHg (Fig 2b). There was an additional small atrial septal defect with left-to-right shunt. Red blood cell, white blood cell, and platelet counts were normal. Other blood investigations were within normal limits. The infant’s father also had a similar defect involving both the upper limbs. However, he was not diagnosed with any heart defects. A diagnosis of Holt–Oram syndrome with atrial septal defect and aortopulmonary window was established. Genetic testing was not done because molecular genetic testing of TBX5 gene is currently not available in India. However, the unique features that differentiated this syndrome from other heart-hand syndromes were radial aplasia, absent thumb, and no associated haematological abnormalities. He was treated with diuretics followed by device closure of the defect using Amplatzer duct occluder II device (waist-3 mm, length-4 mm) (St. Jude Medical, Minnesota, United States of America). He was advised consultation with an orthopedic surgeon for corrective surgery of skeletal abnormalities. The parents were counselled regarding the possibility of recurrence of the defect in subsequent offspring and advised foetal echocardiographic evaluation of future pregnancies.

Figure 1

( a ) A shortened mid segment of the right upper limb and absent thumb. ( b ) The electrocardiogram showing normal axis and biventricular hypertrophy. ( c ) Cardiomegaly with pulmonary plethora. ( d ) X-ray of right upper limb showing absent radius, first metacarpal and phalyngeal bones. ( e ) Normal X-ray of the left upper limb.

Figure 2

( a ) Two-dimensional echocardiogram with colour Doppler showing aortopulmonary window with continuous left-to-right shunt. ( b ) Continuous wave Doppler showing significant gradient across the aortopulmonary window in both phases of the cardiac cycle.