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A 5-month-old male infant born to consanguinious marriage with past history of feeding difficulties in the form of suck-rest-suck cycle, forehead diaphoresis, and poor weight gain since early infancy presented with increasing severity of respiratory distress and apathy of 2 weeks duration. Physical examination revealed tachypnea, tachycardia, severe respiratory distress with chest wall retractions, and cool peripheries. The liver edge was palpable 4 cm below the left costal margin in midclavicular line. Neurological examination showed floppy infant appearence with generalized hypotonnia and absent deep tendon reflexes. Cardiovascular system examination revealed apex impulse in right 6th intercostal space near anterior axillary line, presence of gallop rhythm, and soft systolic murmur. Chest X-ray (Figure A) was suggestive of visceral situs inversus, dextrocardia, cardiomegaly, and normal pulmonary vasculature. Electrocardiogram showed peaked P waves, severe right and left ventricular hypertrophy with ST-T changes. Echocardiography (Figure B–D; Video in the Data Supplement) showed severe concentric hypertrophy of left ventricle and …

Giant Heart of Classical Infantile-Onset Pompe Disease With Mirror Image Dextrocardia