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Uhl anomaly is characterized by an almost complete absence of the myocardium in the right ventricle resulting in a thin walled nonfunctional right ventricle manifesting with cardiac arrhythmias and right ventricular failure. Cases of partial absence of right ventricular myocardium which remains asymptomatic or mildly symptomatic until adulthood have also been reported. Patients presenting with complete Uhl anomaly should be considered for cardiac transplantation.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for Uhl anomaly.
9 publications have been identified in PubMed for Uhl anomaly. Research spans Case Report / Case Series (89%) and Review / Meta-Analysis (11%).
Laboratto LE (2026). [PMID: 42112971](https://pubmed.ncbi.nlm.nih.gov/42112971/). *JACC Case Rep*. [Case Report / Case Series]
Coacci S (2026). [PMID: 41215553](https://pubmed.ncbi.nlm.nih.gov/41215553/). *Pediatr Dev Pathol*. [Review / Meta-Analysis]
Jaros K (2026). [PMID: 41746483](https://pubmed.ncbi.nlm.nih.gov/41746483/). *Int J Cardiovasc Imaging*. [Case Report / Case Series]
Bacigalupe JJ (2025). [PMID: 40778210](https://pubmed.ncbi.nlm.nih.gov/40778210/). *JHLT Open*. [Case Report / Case Series]
Saito M (2025). [PMID: 41635825](https://pubmed.ncbi.nlm.nih.gov/41635825/). *J Cardiol Cases*. [Case Report / Case Series]
Oka N (2025). [PMID: 40566964](https://pubmed.ncbi.nlm.nih.gov/40566964/). *World J Pediatr Congenit Heart Surg*. [Case Report / Case Series]
Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 3:18 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Uhl anomaly
Toubat O (2024). [PMID: 38601846](https://pubmed.ncbi.nlm.nih.gov/38601846/). *JACC Case Rep*. [Case Report / Case Series]
Mohamed OAM (2024). [PMID: 38693789](https://pubmed.ncbi.nlm.nih.gov/38693789/). *World J Pediatr Congenit Heart Surg*. [Case Report / Case Series]
Vaidyanathan B (2024). [PMID: 38943481](https://pubmed.ncbi.nlm.nih.gov/38943481/). *Echocardiography*. [Case Report / Case Series]