Uhl anomaly

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Uhl anomaly
OMIM 107970
DiseasesDB 33469

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor-in-Chief: Keri Shafer, M.D. [2]

Synonyms and Keywords: parchment right ventricle. See also: arrhythmogenic right ventricular dysplasia

Overview

Uhl anomaly is a very rare congenital heart disease with a partial or total loss of the myocardial muscle in the right ventricle.

Pathophysiology

There is a total loss of myocardial muscle in the right ventricle. It represents a severe from of arrhythmogenic right ventricular dysplasia.

Epidemiology and Demographics

Less than 100 cases have been reported between 1900–1993.

Historical Perspective

Uhl anomaly was first described in 1952.[1]

Diagnosis

Fetal echocardiographic findings

Three findings are enlarged right ventricular cavity without apical trabeculation with a thin hypokinetic ventricular wall.[2]

Sources

References

  1. Uhl HSM. A previously undescribed congenital malformation of the heart: almost total absence of the myocardium of the right ventricle. Bulletin of Johns Hopkins Hospital 1952; 91:197–205.
  2. D. Cardaropoli, M. G. Russo, D. Paladini, C. Pisacane, S. Caputo, P. Giliberti, R. Calabrò Prenatal echocardiography in a case of Uhl's anomaly Ultrasound in Obstetrics and Gynecology Volume 27, Issue 6, Date: June 2006, Pages: 713-714

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