TY  - EJOU
AU  - Xie, Yufei 
AU  - Wang, Jing 
AU  - Wu, Qun 
AU  - Li, Haoxuan 
AU  - Duan, Xiaomin 
AU  - Wang, Fangyun 
AU  - Zhang, Xin 
AU  - Li, Xiaofeng 

TI  - Familial Uhl’s Anomaly: A Congenital Heart Disease Case Report
T2  - Structural and Congenital Heart Disease

PY  - 2025
VL  - 20
IS  - 6
SN  - 3071-1738

AB  - 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%. These findings are consistent with a Uhl-like phenotype. Family screening identified similar, though less severe, RV structural anomalies in the patient’s father and sister, supporting an autosomal dominant inheritance pattern. Whole-exome sequencing revealed a rare heterozygous <i>TTN</i> variant (NM_003319:exon154:c.C56156T:p.T18719M) that co-segregated with the disease phenotype. The proband was treated with medical therapy targeting heart failure and remained clinically stable at discharge. To our knowledge, this is the first reported case of familial Uhl’s anomaly associated with a <i>TTN</i> gene mutation. These findings support a possible genetic basis for Uhl’s anomaly and highlight the importance of genetic screening in patients with familial cardiac structural abnormalities.
KW  - Uhl’s anomaly; <i>TTN</i> gene mutation; familial case; rare disease; case report

DO  - 10.32604/chd.2025.073905