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Cardiovascular manifestations of Alkaptonuria
Author(s) -
Pettit Stephen J.,
Fisher Michael,
Gallagher James A.,
Ranganath Lakshminarayan R.
Publication year - 2011
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-011-9339-z
Subject(s) - alkaptonuria , medicine , cardiology , coronary artery disease , homogentisic acid , disease , valvular heart disease , heart disease , coronary arteries , artery , dermatology , biochemistry , chemistry
The cardiovascular manifestations of alkaptonuria relate to deposition of ochronotic pigment within heart valves, endocardium, aortic intima and coronary arteries. We assessed 16 individuals with alkaptonuria for cardiovascular disease, including full electrocardiographic and echocardiographic assessment. The self reported prevalence of valvular heart disease and coronary artery disease was low. There was a significant burden of previously undiagnosed aortic valve disease, reaching a prevalence of over 40% by the fifth decade of life. The aortic valve disease was found to increase in both prevalence and severity with advancing age. In contrast to previous reports, we did not find a significant burden of mitral valve disease or coronary artery disease. These findings are important for the clinical follow‐up of patients with alkaptonuria and suggest a role for echocardiographic surveillance of patients above 40 years old.