Uhl anomaly

Uhl anomaly
Synonyms DiseasesDB = 33469
Uhl anomaly is inherited via autosomal dominant manner
Specialty Medical genetics Edit this on Wikidata

Uhl's anomaly was first described in 1952 by Dr. Henry Uhl (1921–2009) upon examining one of his patients. [1] It is a very rare congenital heart disease (less than 100 cases 1900–1993) with a partial or total loss of the myocardial muscle in the right ventricle.

Diagnosis

Fetal echocardiographic findings

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

References

  1. ↑ 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.
  2. ↑ 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.

Further reading

  • Gerlis, Leon (January 2003). "Uhl's anomaly" (PDF). Orphanet Encyclopedia. Orphanet. Retrieved November 16, 2010. "Summary".
Classification
External resources


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