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
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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Royal Adelaide Hosp, Dept Cardiothorac Surg, Port Rd, Adelaide, SA 5000, AustraliaRoyal Adelaide Hosp, Dept Cardiothorac Surg, Port Rd, Adelaide, SA 5000, Australia
Vo, Tovi
Edwards, James R. M.
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Royal Adelaide Hosp, Dept Cardiothorac Surg, Port Rd, Adelaide, SA 5000, AustraliaRoyal Adelaide Hosp, Dept Cardiothorac Surg, Port Rd, Adelaide, SA 5000, Australia
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Case Western Reserve Univ, Cleveland Clin, Lerner Coll Med, Cleveland, OH 44106 USACase Western Reserve Univ, Cleveland Clin, Lerner Coll Med, Cleveland, OH 44106 USA
Beach, Jocelyn M.
Mihaljevic, Tomislav
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Cleveland Clin Abu Dhabi, Dept Thorac & Cardiovasc Surg, Abu Dhabi, U Arab EmiratesCase Western Reserve Univ, Cleveland Clin, Lerner Coll Med, Cleveland, OH 44106 USA
Mihaljevic, Tomislav
Rajeswaran, Jeevanantham
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Quantitat Hlth Sci, Cleveland, OH USACase Western Reserve Univ, Cleveland Clin, Lerner Coll Med, Cleveland, OH 44106 USA
Rajeswaran, Jeevanantham
Marwick, Thomas
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机构:Case Western Reserve Univ, Cleveland Clin, Lerner Coll Med, Cleveland, OH 44106 USA
Marwick, Thomas
Griffin, Brian
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机构:Case Western Reserve Univ, Cleveland Clin, Lerner Coll Med, Cleveland, OH 44106 USA
Griffin, Brian
Svensson, Lars G.
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机构:Case Western Reserve Univ, Cleveland Clin, Lerner Coll Med, Cleveland, OH 44106 USA
Svensson, Lars G.
Johnston, Douglas R.
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机构:Case Western Reserve Univ, Cleveland Clin, Lerner Coll Med, Cleveland, OH 44106 USA
Johnston, Douglas R.
Blackstone, Eugene H.
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机构:Case Western Reserve Univ, Cleveland Clin, Lerner Coll Med, Cleveland, OH 44106 USA
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Jagiellonian Univ Med Coll, John Paul II Hosp, Inst Cardiol, Dept Intervent Cardiol, Pradnicka 80, PL-31202 Krakow, PolandJagiellonian Univ Med Coll, John Paul II Hosp, Inst Cardiol, Dept Intervent Cardiol, Pradnicka 80, PL-31202 Krakow, Poland
Legutko, Jacek
Wiewiorka, Lukasz
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John Paul 2 Hosp, Clin Dept Intervent Cardiol, Krakow, PolandJagiellonian Univ Med Coll, John Paul II Hosp, Inst Cardiol, Dept Intervent Cardiol, Pradnicka 80, PL-31202 Krakow, Poland
Wiewiorka, Lukasz
Piatek, Jacek
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Jagiellonian Univ Med Coll, John Paul II Hosp, Inst Cardiol, Dept Cardiac Surg & Transplantat, Krakow, PolandJagiellonian Univ Med Coll, John Paul II Hosp, Inst Cardiol, Dept Intervent Cardiol, Pradnicka 80, PL-31202 Krakow, Poland
Piatek, Jacek
Trebacz, Jaroslaw
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John Paul 2 Hosp, Clin Dept Intervent Cardiol, Krakow, PolandJagiellonian Univ Med Coll, John Paul II Hosp, Inst Cardiol, Dept Intervent Cardiol, Pradnicka 80, PL-31202 Krakow, Poland
Trebacz, Jaroslaw
Sobczynski, Robert
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John Paul 2 Hosp, Clin Dept Cardiac Surg & Transplantat, Krakow, PolandJagiellonian Univ Med Coll, John Paul II Hosp, Inst Cardiol, Dept Intervent Cardiol, Pradnicka 80, PL-31202 Krakow, Poland
Sobczynski, Robert
Stapor, Maciej
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John Paul 2 Hosp, Clin Dept Intervent Cardiol, Krakow, PolandJagiellonian Univ Med Coll, John Paul II Hosp, Inst Cardiol, Dept Intervent Cardiol, Pradnicka 80, PL-31202 Krakow, Poland
Stapor, Maciej
Konstanty-Kalandyk, Janusz
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Jagiellonian Univ Med Coll, John Paul II Hosp, Inst Cardiol, Dept Cardiac Surg & Transplantat, Krakow, PolandJagiellonian Univ Med Coll, John Paul II Hosp, Inst Cardiol, Dept Intervent Cardiol, Pradnicka 80, PL-31202 Krakow, Poland
Konstanty-Kalandyk, Janusz
Kapelak, Boguslaw
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Jagiellonian Univ Med Coll, John Paul II Hosp, Inst Cardiol, Dept Cardiac Surg & Transplantat, Krakow, PolandJagiellonian Univ Med Coll, John Paul II Hosp, Inst Cardiol, Dept Intervent Cardiol, Pradnicka 80, PL-31202 Krakow, Poland