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Gerbode-ish Defect: A Congenital Left Ventricular-to-Right Atrium Shunt
Noah J Speiser1, Luke Wiggins2, Merujan Uzunyan3
1Keck School of Medicine of USC, Rolling Hills Estates, California, USA.
JACC. Case Reports
|August 22, 2025
Summary
A rare congenital Gerbode defect, a left ventricle to right atrium shunt, can be missed in newborns. Early diagnosis via echocardiogram is crucial for managing cyanosis and respiratory issues in infants.
Area of Science:
- Cardiology
- Pediatric Cardiology
- Congenital Heart Disease
Background:
- Gerbode defects are rare communications between the left ventricle and right atrium.
- Congenital Gerbode defects necessitate prompt diagnosis and medical management prior to surgical correction.
Observation:
- A 3-day-old male infant presented with episodic cyanosis and tachypnea.
- Echocardiogram revealed a type 2 Gerbode defect, a left ventricle to right atrium shunt via the tricuspid valve.
Findings:
- Gerbode defects are often missed at birth due to varied cardiac presentations.
- Diagnosis can be challenging, requiring a high index of suspicion.
Implications:
- Cardiac anomalies should be considered in the differential diagnosis of infant cyanosis and respiratory distress.
- Echocardiography is essential for diagnosing Gerbode defects and monitoring shunt progression.
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