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Updated: May 27, 2026
08:43
Calcification of Vascular Smooth Muscle Cells and Imaging of Aortic Calcification and Inflammation
Published on: May 31, 2016
Aortic stenosis and vascular calcifications in alkaptonuria
Hwaida Hannoush1, Wendy J Introne, Marcus Y Chen
1Cardiovascular and Pulmonary Branch, National Heart Lung and Blood Institute, NIH, Bethesda, MD, USA.
Molecular Genetics and Metabolism
|November 22, 2011
Summary
Alkaptonuria patients frequently develop cardiovascular disease, particularly aortic valve issues and vascular calcifications. Early echocardiographic and CT screening is recommended for alkaptonuria-related heart conditions.
Area of Science:
- Cardiology
- Metabolic Disorders
- Genetics
Background:
- Alkaptonuria (AKU) is a rare inherited metabolic disorder characterized by homogentisic acid (HGA) accumulation.
- HGA deposition affects multiple organs, including the cardiovascular system, leading to pigment deposition in heart valves, aorta, and coronary arteries.
- The prevalence and characteristics of cardiovascular disease in AKU patients are not well-defined.
Purpose of the Study:
- To investigate the prevalence and features of cardiovascular disease in a cohort of adult patients with alkaptonuria.
- To assess the utility of echocardiography and CT scans in detecting cardiovascular manifestations of AKU.
- To explore correlations between cardiovascular disease severity, joint involvement, and HGA levels.
Main Methods:
- Retrospective analysis of 76 adult AKU patients undergoing transthoracic echocardiography (2000-2009).
- Subgroup analysis of 40 patients who underwent non-contrast CT scans for vascular calcification assessment.
- Evaluation of aortic valve disease, coronary artery calcification, and association with clinical factors.
Main Results:
- A significant proportion of AKU patients exhibited aortic valve disease (sclerosis or stenosis) and vascular calcifications in the aorta and coronary arteries.
- Aortic valve replacement was necessary in 6 patients; 12 had aortic sclerosis and 7 had aortic stenosis.
- No correlation was found with standard cardiac risk factors, but a modest association existed between aortic valve disease severity and joint involvement.
Conclusions:
- Cardiovascular disease, particularly valvular heart disease and vascular calcifications, is common in alkaptonuria patients.
- Echocardiography is crucial for screening valvular heart disease, and cardiac CT is valuable for detecting coronary artery calcifications in AKU.
- These findings underscore the importance of proactive cardiovascular monitoring in alkaptonuria management.
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