Case of successful long-term outcome with Uhl's anomaly after total cavopulmonary connection with right ventricular exclusion

We report a case of Uhl's anomaly in a 24-year-old man with a hemodynamically stable condition achieved by total cavopulmonary connection (TCPC) with right ventricular (RV) exclusion. He presented with cyanosis shortly after birth. Severe RV enlargement and dysfunction were observed during early infancy. He underwent one and a half ventricular repair with partial RV resection at 9 months of age. Intraoperatively, the free wall of the right ventricle was enlarged and extremely thin. Pathological examination of the resected right ventricle revealed severe subendothelial fibrosis and a mildly degenerated myocardium, suggesting Uhl's anomaly. Following the surgery, the right ventricle was re-enlarged, accompanied by a decline in its function. The patient underwent TCPC with fenestration and RV exclusion at 6 years of age. The fenestration was surgically closed at 15 years of age due to his oxygen saturation dropping below 90 %. At the age of 24 years, the left ventricular ejection fraction was preserved without RV dilatation with New York Heart Association Class I even under univentricular circulation. In cases of Uhl's anomaly with severe RV dysfunction combined with a significantly degenerated RV myocardium, TCPC and RV exclusion should be one therapeutic option for a successful long-term outcome.

Learning objective

Uhl's anomaly is a cardiomyopathy of the right ventricle, with a poor prognosis and no treatment strategy. Appropriate surgical interventions are crucial particularly in the presence of right ventricular (RV) dysfunction, including refractory RV enlargement, worsened function, and significantly degenerated RV myocardium. In some cases, total cavopulmonary connection combined with RV exclusion contributes to reduce the impact of an enlarged right ventricle and lead to favorable long-term outcomes.