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Home / Journals / CHD / Online First / doi:10.32604/chd.2025.073905
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CASE REPORT

Familial Uhl’s Anomaly: A Congenital Heart Disease Case Report

Yufei Xie1,#, Jing Wang2,#, Qun Wu1, Haoxuan Li2, Xiaomin Duan1, Fangyun Wang1, Xin Zhang1,*, Xiaofeng Li3,*
1 Heart Center, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, 100045, China
2 Department of Medical Genetics and Developmental Biology, School of Basic Medical Sciences, Capital Medical University, Beijing, 100069, China
3 Children’s Hospital, Zhejiang University School of Medicine, Hangzhou, 310052, China
* Corresponding Author: Xin Zhang. Email: email; Xiaofeng Li. Email: email
# Yufei Xie and Jing Wang contributed equally to this study

Congenital Heart Disease https://doi.org/10.32604/chd.2025.073905

Received 28 September 2025; Accepted 23 December 2025; Published online 05 February 2026

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%. 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 TTN 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 TTN 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.

Keywords

Uhl’s anomaly; TTN gene mutation; familial case; rare disease; case report

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