A heart so black: a case of alkaptonuric ochronosis of the aortic and mitral valves in a female patient with severe aortic valve stenosis and coronary artery disease

被引:0
|
作者
Kamougeros, Alex [1 ]
Shiakos, George [1 ,2 ]
Ioannou, Stelios [1 ]
Tzanavaros, Ioannis [1 ,3 ]
Al-Jazrawi, Zeyad [1 ]
Ioannou, Beatrice [1 ]
机构
[1] Apollon Hosp, Cardiac Innovat Ctr, Lefkotheou 20, CY-2054 Nicosia, Nicosia, Cyprus
[2] European Univ, Med Sch, Nicosia, Cyprus
[3] Univ Nicosia, Med Sch, Nicosia, Cyprus
来源
JOURNAL OF SURGICAL CASE REPORTS | 2024年 / 2024卷 / 10期
关键词
alkaptonuric ochronosis; aortic valve stenosis; cardiac valve ochronosis;
D O I
10.1093/jscr/rjae644
中图分类号
R61 [外科手术学];
学科分类号
摘要
Alkaptonuric ochronosis, characterized by the deposition of homogentisic acid in connective tissues, is commonly linked with alkaptonuria, a rare genetic disorder resulting from homogentisate 1,2-dioxygenase deficiency. Despite its association with alkaptonuria, ochronosis can occur in individuals without a prior diagnosis. This case report discusses a 64-year-old female with severe aortic valve stenosis and coronary artery disease who was found to have ochronotic pigmentation in the aortic and mitral valves, as well as in the aortic root intima and papillary muscles. This case emphasizes the need to consider ochronosis in the differential diagnosis of valvular disease when alkaptonuria is suspected.
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页数:3
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