Aortic distensibility in alkaptonuria

Thimmapuram, Rashmi; Bandettini, W. Patricia; Shanbhag, Sujata M.; Yu, Jeannie; O’Brien, Kevin; Gahl, William A.; Introne, Wendy J.; Chen, Marcus Y

doi:10.1016/j.ymgme.2020.05.006

Cited by 2 publications

(2 citation statements)

References 42 publications

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“…Some have even noted coronary artery, sternal and aortic wall involvement 8,9 . Although pigmentation has been noted within the walls of the aorta with evidence of impaired aortic distensibility in patients with alkaptonuria, 10 there have been no cases of aortic aneurysm or aortic dissection due to ochronosis reported in the literature.…”

Section: Discussionmentioning

confidence: 99%

A black heart: Aortic valve ochronosis secondary to alkaptonuria causing aortic stenosis

Edwards

2021

J Card Surg

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Alkaptonuria is a rare autosomal recessive genetic disorder where an accumulation of homogentisic acid in the tissues leads to ochronosis-a pathological dark pigmentation. It can affect various tissues and the weight bearing joints of the body, leading to degenerative arthropathy. On the rare occasion, it causes cardiac manifestations. We describe a case of aortic valve stenosis due to ochronosis secondary to alkaptonuria requiring aortic valve replacement.

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Section: Discussionmentioning

confidence: 99%

A black heart: Aortic valve ochronosis secondary to alkaptonuria causing aortic stenosis

Edwards

2021

J Card Surg

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“…Cardiac valves, vessels, endocardium, and intima can become strongly pigmented, and the aortic valves can become thickened and calcified [ 49 ]. Over time, valves lose their functions and must be replaced surgically, an early marker for reduced cardiovascular health being an impaired aortic distensibility [ 50 ]. Data obtained in a AKU cohort revealed that all patients older than 65 years had aortic stenosis, while in the group of individuals over 50 years, 10% had aortic sclerosis and 40% had aortic stenosis [ 51 ].…”

Section: Molecular Insights Into Alkaptonuriamentioning

confidence: 99%

Alkaptonuria: From Molecular Insights to a Dedicated Digital Platform

Milella,

Geminiani,

Trezza

et al. 2024

Cells

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Alkaptonuria (AKU) is a genetic disorder that affects connective tissues of several body compartments causing cartilage degeneration, tendon calcification, heart problems, and an invalidating, early-onset form of osteoarthritis. The molecular mechanisms underlying AKU involve homogentisic acid (HGA) accumulation in cells and tissues. HGA is highly reactive, able to modify several macromolecules, and activates different pathways, mostly involved in the onset and propagation of oxidative stress and inflammation, with consequences spreading from the microscopic to the macroscopic level leading to irreversible damage. Gaining a deeper understanding of AKU molecular mechanisms may provide novel possible therapeutical approaches to counteract disease progression. In this review, we first describe inflammation and oxidative stress in AKU and discuss similarities with other more common disorders. Then, we focus on HGA reactivity and AKU molecular mechanisms. We finally describe a multi-purpose digital platform, named ApreciseKUre, created to facilitate data collection, integration, and analysis of AKU-related data.

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Aortic distensibility in alkaptonuria

Cited by 2 publications

References 42 publications

A black heart: Aortic valve ochronosis secondary to alkaptonuria causing aortic stenosis

A black heart: Aortic valve ochronosis secondary to alkaptonuria causing aortic stenosis

Alkaptonuria: From Molecular Insights to a Dedicated Digital Platform

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