Aortic Valve Replacement for Aortic Stenosis Caused by Alkaptonuria

Hiroyoshi, Junko; Saito, Aya; Panthee, Nirmal; Imai, Yasushi; Kawashima, Dai; Motomura, Noboru; Ōno, Minoru

doi:10.1016/j.athoracsur.2012.07.058

Cited by 15 publications

(11 citation statements)

References 9 publications

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“…AKU patients have a higher prevalence of aortic valve disease than normal population [5]. Frequent coronary artery calcification has been reported and AKU patients often require coronary artery bypass grafting [1].…”

Section: Discussionmentioning

confidence: 99%

Amyloidosis, Inflammation, and Oxidative Stress in the Heart of an Alkaptonuric Patient

Millucci

Ghezzi

Paccagnini

et al. 2014

Mediators of Inflammation

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Background. Alkaptonuria, a rare autosomal recessive metabolic disorder caused by deficiency in homogentisate 1,2-dioxygenase activity, leads to accumulation of oxidised homogentisic acid in cartilage and collagenous structures present in all organs and tissues, especially joints and heart, causing a pigmentation called ochronosis. A secondary amyloidosis is associated with AKU. Here we report a study of an aortic valve from an AKU patient. Results. Congo Red birefringence, Th-T fluorescence, and biochemical assays demonstrated the presence of SAA-amyloid deposits in AKU stenotic aortic valve. Light and electron microscopy assessed the colocalization of ochronotic pigment and SAA-amyloid, the presence of calcified areas in the valve. Immunofluorescence detected lipid peroxidation of the tissue and lymphocyte/macrophage infiltration causing inflammation. High SAA plasma levels and proinflammatory cytokines levels comparable to those from rheumatoid arthritis patients were found in AKU patient. Conclusions. SAA-amyloidosis was present in the aortic valve from an AKU patient and colocalized with ochronotic pigment as well as with tissue calcification, lipid oxidation, macrophages infiltration, cell death, and tissue degeneration. A local HGD expression in human cardiac tissue has also been ascertained suggesting a consequent local production of ochronotic pigment in AKU heart.

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Section: Discussionmentioning

confidence: 99%

Amyloidosis, Inflammation, and Oxidative Stress in the Heart of an Alkaptonuric Patient

Millucci

Ghezzi

Paccagnini

et al. 2014

Mediators of Inflammation

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“…Aortic valve disease appears to be the most frequently reported cardiac sequela of alkaptonuria . Most documented cases occur in the sixth and seventh decades of life, which is similar to that in the general population .…”

Section: Discussionmentioning

confidence: 80%

Alkaptonuria-Associated Aortic Stenosis

2013

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Alkaptonuria is an autosomal recessive disorder of tyrosine metabolism, which results in accumulation of unmetabolized homogentisic acid and its oxidized product in various tissues, including the heart. Cardiovascular involvement is a rare but serious complication of the disease. We present two patients who have undergone successful aortic valve replacement for alkaptonuria-associated aortic stenosis along with a review of the literature.

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“…In this case, a bioprosthetic valve was used due to the patient’s age. A bioprosthetic valve is susceptible to HGA deposition so there are concerns about its durability, 8 however, the rate of bioprosthetic valve failure has not yet been reported. Long-term follow-up may allow better understanding of this rare condition.…”

Section: Discussionmentioning

confidence: 99%

No ochronosis was seen at internal thoracic artery with alkaptonuria

Watanabe

Harada

Mikami

et al. 2018

Asian Cardiovasc Thorac Ann

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Alkaptonuria is a rare disorder of amino acid metabolism that causes premature large joint spine arthropathy and cardiac disease. We describe a case of aortic stenosis and coronary artery disease associated with ochronosis in a 76-year-old man who underwent aortic valve replacement and coronary artery bypass grafting. Although the ochronosis was extensive, no ochronosis was seen in the internal thoracic artery which used for coronary artery bypass grafting. Ochronosis with alkaptonuria is considered to accelerate the atherosclerotic process, so the internal thoracic artery may ensure a better long-term outcome. Long-term follow-up may allow better understanding of this rare condition.

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Aortic Valve Replacement for Aortic Stenosis Caused by Alkaptonuria

Cited by 15 publications

References 9 publications

Amyloidosis, Inflammation, and Oxidative Stress in the Heart of an Alkaptonuric Patient

Amyloidosis, Inflammation, and Oxidative Stress in the Heart of an Alkaptonuric Patient

Alkaptonuria-Associated Aortic Stenosis

No ochronosis was seen at internal thoracic artery with alkaptonuria

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