Uhl anomaly

The Uhl anomaly is a partial or total loss of the myocardial muscle in the right ventricle. A congenital heart disease, it is very rare: fewer than 100 cases in 1900–1993.

Uhl anomaly
Other namesParchment right ventricle[1]
Uhl anomaly is inherited via autosomal dominant manner
SpecialtyMedical genetics Edit this on Wikidata

It was first described in 1952 by Dr. Henry Uhl (1921–2009) upon examining one of his patients. [2]

Three findings are enlarged right ventricular cavity without apical trabeculation with a thin hypokinetic ventricular wall.[3]

References
  1. "Uhl anomaly | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 28 May 2019.
  2. Uhl, HS (1952). "A previously undescribed congenital malformation of the heart: almost total absence of the myocardium of the right ventricle". Bulletin of the Johns Hopkins Hospital. 91 (3): 197–209. PMID 12978573.
  3. Cardaropoli, D; Russo, MG; Paladini, D; Pisacane, C; Caputo, S; Giliberti, P; Calabrò, R (2006). "Prenatal echocardiography in a case of Uhl's anomaly". Ultrasound in Obstetrics & Gynecology. 27 (6): 713–4. doi:10.1002/uog.2798. PMID 16710881. S2CID 28861035.

Further reading


This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.