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Uhl anomaly

Orpha number ORPHA3403
Synonym(s) -
Prevalence <1 / 1 000 000
Inheritance
  • Sporadic
Age of onset Neonatal/infancy
ICD-10
  • Q24.8
OMIM
UMLS
  • C0265857
MeSH
  • C536932
MedDRA
  • 10048951
SNOMED CT
  • 2829000

Summary

Uhl's anomaly is characterized by absence of the myocardial layer of the right ventricle, with apposition of the endocardium and epicardium. It has often been confused with arrythmogenic right ventricular dysplasia. Uhl's anomaly is rarely familial. It appears to be of congenital origin but is rarely associated with other cardiac malformations. Congestive cardiac failure is the usual mode of presentation, but arrythmias or heart block are sometimes observed. Uhl's anomaly is exceedingly rare and it is not possible to estimate its prevalence. A review in 1993 found only 84 reported cases in the world literature since the beginning of the 20th century. Etiology has not been clearly determined yet. Diagnosis is generally suggested by echocardiography or more sophisticated methods of imaging. Medical management of any congestive heart failure or arrhythmias relies on palliative care but surgery, including cardiac transplantation, offers the only hope of extended survival.

Expert reviewer(s)

  • Dr Leon GERLIS

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