Document Detail

Aortic stenosis and vascular calcifications in alkaptonuria.
MedLine Citation:
PMID:  22100375     Owner:  NLM     Status:  MEDLINE    
Alkaptonuria is a rare metabolic disorder of tyrosine catabolism in which homogentisic acid (HGA) accumulates and is deposited throughout the spine, large joints, cardiovascular system, and various tissues throughout the body. In the cardiovascular system, pigment deposition has been described in the heart valves, endocardium, pericardium, aortic intima and coronary arteries. The prevalence of cardiovascular disease in patients with alkaptonuria varies in previous reports. We present a series of 76 consecutive adult patients with alkaptonuria who underwent transthoracic echocardiography between 2000 and 2009. A subgroup of 40 patients enrolled in a treatment study underwent non-contrast CT scans and these were assessed for vascular calcifications. Six of the 76 patients had aortic valve replacement. In the remaining 70 patients, 12 patients had aortic sclerosis and 7 patients had aortic stenosis. Unlike degenerative aortic valve disease, we found no correlation with standard cardiac risk factors. There was a modest association between the severity of aortic valve disease and joint involvement, however, we saw no correlation with urine HGA levels. Vascular calcifications were seen in the coronaries, cardiac valves, aortic root, descending aorta and iliac arteries. These findings suggest an important role for echocardiographic screening of alkaptonuria patients to detect valvular heart disease and cardiac CT to detect coronary artery calcifications.
Hwaida Hannoush; Wendy J Introne; Marcus Y Chen; Sook-Jin Lee; Kevin O'Brien; Pim Suwannarat; Michael A Kayser; William A Gahl; Vandana Sachdev
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Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural     Date:  2011-10-30
Journal Detail:
Title:  Molecular genetics and metabolism     Volume:  105     ISSN:  1096-7206     ISO Abbreviation:  Mol. Genet. Metab.     Publication Date:  2012 Feb 
Date Detail:
Created Date:  2012-01-23     Completed Date:  2012-07-23     Revised Date:  2013-06-27    
Medline Journal Info:
Nlm Unique ID:  9805456     Medline TA:  Mol Genet Metab     Country:  United States    
Other Details:
Languages:  eng     Pagination:  198-202     Citation Subset:  IM    
Copyright Information:
Published by Elsevier Inc.
Cardiovascular and Pulmonary Branch, National Heart Lung and Blood Institute, NIH, Bethesda, MD, USA.
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MeSH Terms
Aged, 80 and over
Alkaptonuria / complications,  epidemiology,  metabolism*,  pathology*
Aortic Valve Stenosis / complications,  epidemiology,  pathology*
Cardiovascular System / pathology*
Homogentisic Acid / metabolism*,  urine
Middle Aged
Pigments, Biological / metabolism
Tyrosine / genetics,  metabolism*
Vascular Calcification / complications,  epidemiology,  pathology*
Young Adult
Grant Support
Reg. No./Substance:
0/Pigments, Biological; 451-13-8/Homogentisic Acid; 55520-40-6/Tyrosine

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