Choice of Valve Prosthesis in a Rare Clinical Condition: Aortic Stenosis due to Alkaptonuria

Thakur, Sameer; Markman, Phuong; Cullen, Hugh

doi:10.1016/j.hlc.2012.12.015

Cited by 20 publications

(15 citation statements)

References 6 publications

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“…AKU is mostly asymptomatic in early life, with arthropathy and cardiovascular symptoms appearing in later decades of life. Cardiovascular involvement has been described in as many as 40% of AKU patients (mean and median age of detection being 54 and 52 years, respectively) [1]. Alkaptonuric ochronosis can be treated symptomatically during the early stages, whereas for end stages total joint and heart valve replacements may be required [1–3], but no specific cure exists at the moment, although a phase II clinical trial with nitisinone is in progress.…”

mentioning

confidence: 99%

Secondary amyloidosis in an alkaptonuric aortic valve

Millucci

Ghezzi

Braconi

et al. 2014

International Journal of Cardiology

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mentioning

confidence: 99%

Secondary amyloidosis in an alkaptonuric aortic valve

Millucci

Ghezzi

Braconi

et al. 2014

International Journal of Cardiology

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“…In one study, Lok et al 7 reported a 2-patient case series of cardiac alkaptonuria who underwent aortic valve replacement. In another study, Thakur et al 8 reported a similar case of alkaptonuric aortic valve stenosis who underwent successful aortic valve replacement as well.…”

Section: Discussionmentioning

confidence: 93%

Severe Aortic Valve Stenosis Due to Alkaptonuric Ochronosis

Ahmed

Hussain

Ott³

et al. 2017

Semin Cardiothorac Vasc Anesth

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Alkaptonuric ochronosis is a rare cause of aortic valve stenosis. We report the case of a 61-year-old female patient with alkaptonuria who presented to our institute with the clinical picture of severe aortic valve stenosis, which was confirmed by transthoracic echocardiography. On aortotomy, she was noted to have an impressive black discoloration of ascending aorta and the aortic root complex involving the aortic valve leaflets. She underwent an uneventful aortic valve replacement. She was discharged home 10 days postoperatively.

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“…Dietary restriction of tyrosine and phenylalanine is often recommended but does not significantly change the progression of the disease. Reports have suggested that biological valve prosthesis may be exposed to the same process of HGA deposition and calcification as is native valve tissue, thus adversely affecting prosthesis longevity (6). Unfortunately, the recurrence rate of ochronosis in bioprosthetic valves is yet to be reported, along with limited data on the most appropriate type of valvular replacement in such patients.…”

Section: Discussionmentioning

confidence: 99%

Ochronosis of the aortic valve

et al. 2018

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Ochronosis is the bluish-black discolouration of connective tissue, including heart valves, joints, kidney and the skin. It is due to the deposition of homogentisic acid (HGA) commonly found in alkaptonuria. Ochronosis in the aortic valve is a rare occurrence and there is limited data available on the most appropriate choice of valve prosthesis in these patients. This case involves a 72-year-old male with symptomatic aortic stenosis and on echocardiogram a severe calcific trileaflet aortic stenosis with normal ejection fraction. Intraoperative aortic cannulation was routine and uncomplicated, and bluish-black discolouration of aortic valve was noted. Thorough decalcification was undertaken and a bioprosthetic valve was chosen in accordance with patient's age and preference. There were no complications post-operatively and the patient reported being well. Ochronosis affecting the aortic valve is a rare condition and there is limited data on the recurrence rate as well as the natural history of the disease. This case reports aims to provide data to facilitate further research to better understand the natural history of aortic valve ochronosis and rates of recurrence following bioprosthetic aortic valve replacement (AVR).

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Choice of Valve Prosthesis in a Rare Clinical Condition: Aortic Stenosis due to Alkaptonuria

Cited by 20 publications

References 6 publications

Secondary amyloidosis in an alkaptonuric aortic valve

Secondary amyloidosis in an alkaptonuric aortic valve

Severe Aortic Valve Stenosis Due to Alkaptonuric Ochronosis

Ochronosis of the aortic valve

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