Yufei Xie1,#, Jing Wang2,#, Qun Wu1, Haoxuan Li2, Xiaomin Duan1, Fangyun Wang1, Xin Zhang1,*, Xiaofeng Li3,*
Congenital Heart Disease, DOI:10.32604/chd.2025.073905
Abstract Uhl’s anomaly is an exceedingly rare (fewer than 1 in 1,000,000 live births) and often fatal congenital heart disease characterized by the near-complete absence of the right ventricular (RV) myocardium. Although typically considered sporadic, we report a familial case suggesting an inherited etiology. A 12-year-old boy presented with exertional chest pain and a decade-long history of an abnormal cardiac silhouette. Comprehensive imaging revealed apical RV wall thinning, aneurysmal bulging with trabeculations, and severely impaired RV function, with a Tricuspid Annular Plane Systolic Excursion (TAPSE) of 10 mm and a Fractional Area Change (FAC) of 35%.… More >