Case report highlights the importance of echocardiogram in diagnosing gerbode defects in infants, suggesting timely medical intervention.
A Gerbode defect is a rare communication between the left ventricle and right atrium. Patients with congenital Gerbode defects require prompt diagnosis and medical therapy to temporize their disease until more definitive surgical correction can occur. A 3-day-old male infant presented to urgent care after his mother noticed episodic cyanosis of the lips and tachypnea that self-resolved. On echocardiogram, he was found to have a Gerbode type 2 defect with a shunt from the left ventricle to the right atrium across the septal leaflet of the tricuspid valve. These rare defects are frequently missed at birth and are challenging to diagnose given their broad cardiac presentation. Cardiac causes must be included in early the differential diagnosis when evaluating cyanosis and respiratory chief complaints. Echocardiogram is valuable as a diagnostic marker for the progression of left-to-right shunts.
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Speiser et al. (2025) studied this question.
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