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Total anomalous pulmonary venous return

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Total anomalous pulmonary venous return

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Questions

USMLE® Step 1 style questions USMLE

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A 2-day-old male newborn is being evaluated in the neonatal intensive care unit for progressive cyanosis, breathing difficulty and poor feeding. He was born to a 22-year-old mother who received no prenatal care. Temperature is 37.0° C (98.6° F), pulse is 160/min, blood pressure is 87/55 mm Hg, and respiration rate is 55/min. On physical examination, no craniofacial deformities are seen. Central cyanosis is present, and cardiac auscultation reveals fixed splitting of the second heart sound (S2) over the left upper sternal border. Chest radiograph is obtained and shown below:  


Reproduced from: Radiopaedia    
Which of the following is the most likely diagnosis?  

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Summary

Total anomalous pulmonary venous return is a rare congenital heart defect in which all four pulmonary veins that carry oxygenated blood from the lungs to the heart are not properly connected to the left atrium. Instead, the pulmonary veins drain into other blood vessels or into the right atrium, which normally receives deoxygenated blood from the body. As a result, oxygenated blood cannot flow to the body efficiently, leading to symptoms such as cyanosis, difficulty breathing, poor feeding, and slow growth.

A patent foramen ovale, patent ductus arteriosus, or an atrial septal defect must be present, or else the condition is fatal due to a lack of systemic blood flow. Treatment requires surgery to reestablish the normal connections between the pulmonary veins and the left atrium. Infants with severe symptoms may require emergency surgery, while those with mild symptoms may be able to wait until they are a few months old.