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European Heart Journal 1995 16(2):285-286;
Copyright © 1995 by the European Society of Cardiology.
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© 1995 The European Society of Cardiology

Familial ochronosis

R. CORTINA*,, C. MORIS{dagger}, A. ASTUDILLO{ddagger}, F. GOSALBEZ§ and A. CORTINA{dagger}

*Brook General Hospital London, U.K.
{dagger}Cardiology Department, Hospital Central de Asturias Oviedo, Spain
{ddagger}Pathology Department, Hospital Central de Asturias Oviedo, Spain
§Cardiopulmonary Surgical Department, Hospital Central de Asturias Oviedo, Spain

Received 2 December 1993; revised 26 July 1994; .

Correspondence. Dr. A. Cortina, Servicio de Cardiologia, Hospital Central de Asturias. C/Julian Claverias/n. Oviedo 33006. Spain.

Abstract

We report the case of a 72-year-old female with alkaptonuric ochronosis and symptomatic aortic stenosis requiring aortic valve replacement. She was the seventh of nine children, and four of the nine siblings were diagnosed as having ochronosis. Only one, however presented with aortic stenosis.

Key Words: Ochronosis • alkaptonuria • aortic valve stenosis


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A. A. Fisher and M. W. Davis
Alkaptonuric Ochronosis with Aortic Valve and Joint Replacements and Femoral Fracture: A Case Report and Literature Review
Clin. Med. Res., November 1, 2004; 2(4): 209 - 215.
[Abstract] [Full Text] [PDF]



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