Delayed Adolescent Presentation of Uhl’s Anomaly Presenting as Pericardial Effusion: A Case Report

Abstract

Background and Significance: Uhl’s anomaly, a rare congenital cardiac disease, is characterized by the partial or complete absence of the right ventricular myocardium, leading to progressive right-sided heart failure. Although typically diagnosed in infancy, late-onset presentations are rare and could be misdiagnosed as Ebstein’s anomaly or arrhythmogenic right ventricular dysplasia (ARVD), resulting in delayed and potentially life-threatening diagnoses.

Case Summary: We present a case of a 15-year-old adolescent who initially presented with persistent jaundice following hepatitis A infection. Investigations revealed cardiomegaly and pericardial effusion, prompting further evaluation. Multimodal imaging revealed severe right ventricular dilation, paradoxical septal motion, and near-total absence of myocardium in the right ventricle, confirming Uhl’s anomaly. Over the next five years, the patient developed progressive fatigue, ascites, and right-sided heart failure. He was listed on the heart transplant list and managed conservatively with diuretics, beta blockers, spironolactone, and an implantable cardiac defibrillator. However, his condition deteriorated, progressing to cardiac cirrhosis, refractory ascites, and recurrent predominantly right-sided heart decompensations. Ultimately, he suffered an out-of-hospital cardiac arrest and was pronounced deceased at the age of 21.

Conclusion and Discussion: This case highlights the diagnostic challenges of adolescent-onset Uhl’s anomaly and emphasizes the need to consider this diagnosis in young patients with isolated right ventricular dysfunction. Early utilization of cardiac MRI and timely referral for transplantation may improve outcomes in this rare but life-threatening condition.