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Background: Cardiomegaly discovered in the fetal or neonatal period may be the first sign of cardiac disease. However, the differential diagnosis for cardiomegaly with a structurally and functionally normal heart includes cardiomyopathies as well as non-cardiac etiologies, including extracardiac shunt lesions and vascular malformations, among others. Thus, unexplained cardiomegaly requires further investigation for extracardiac anomalies. In this case, we focus on an unusual etiology of diffuse cardiac dilatation – intrahepatic portosystemic shunt – that was initially misdiagnosed as dilated cardiomyopathy. Case Description: A 9-year-old male with history of learning difficulty and tall stature was seen for follow-up of diffuse cardiomegaly present since fetal life, initially diagnosed as likely dilated cardiomyopathy. He was otherwise healthy and asymptomatic. Echocardiogram demonstrated persistent four chamber and aortic root dilatation with preserved biventricular systolic function, normal wall thickness, and normal valvular function. However, a new finding of hepatic vein dilatation prompted further evaluation. Abdominal ultrasound showed abnormal intrahepatic vasculature concerning for portosystemic shunt. After confirmation on CT angiogram, he underwent resection of the abnormal vascular connection. He had an uncomplicated post-operative course and repeat echocardiogram showed improvement in ventricular size. Conclusion: Cardiomegaly is a common presentation of underlying cardiac disease but can less commonly be caused by extracardiac abnormalities. Here, we highlight a case of intrahepatic portosystemic shunt as an uncommon, yet important etiology to consider when evaluating unexplained cardiomegaly in a pediatric patient.


Cardiology | Pediatrics


Presented at the 8th World Congress of Pediatric Cardiology and Cardiac Surgery; Washington, DC; August 27th-Sept 1, 2023.

An Unusual Cardiomegaly Culprit: Case Report Of A Hemodynamically Significant Portosystemic Shunt