Abstract
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.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Erek E, Casselman FR, Vanermen H (2004) Cardiac ochronosis: valvular heart disease with dark green discoloration of the leaflets. Texas Heart Inst J 31:445–447
Fernandez-Canon JM, Granadino B, Beltran-Valero de Bernabe D et al. (1996) The molecular basis of alkaptonuria. Nat Genet 14:19–24
Ffolkes LV, Brull D, Krywawuch S et al (2006) Aortic stenosis in cardiovascular ochronosis. J Clin Pathol 60:92–93
Gaines JJ, Pai GM (1987) Cardiovascular ochronosis. Arch Pathol Lab Med 111:991–994
Goodfellow RJ, Schwartz J, Leya F (2005) Black aorta: a rare finding at aortic valve replacement. J Invasive Cardiol 17:165–167
Gould L, Reddy CVR, Depalwa D (1976) Cardiac manifestations of ochronosis. J Thorac Cardiovasc Surg 72:788–791
Helliwell TR, Gallagher JA, Ranganath L (2008) Alkaptonuria - a review of surgical and autopsy pathology. Histopathology 53:503–512
Lindroos M, Kupari M, Heikkila J (1993) Prevalence of aortic valve abnormalities in the elderly: an echocardiographic study of a random population sample. J Am Coll Cardiol 21:1220–1225
Masani N, Wharton G, Allen J et al. (2008) Echocardiography: Guidelines for Valve Quantification. British Society of Echocardiography Education Committee. http://bsecho.org/index.php?option=com_content&task=view&id=314&Itemid=114 Accessed March 2011
O’Brien WM, La Du BN, Bunim JJ (1963) Biochemical, pathologic and clinical aspects of alcaptonuria, ochronosis and ochronotic arthropathy: review of world literature (1584–1962). Am J Med 34:813–838
Otto CM, Lind BK, Kitzman DW et al. (1999) Association of aortic valve sclerosis with cardiovascular mortality and morbidity in the elderly. N Engl J Med 341:142–147
Phornphutkul C, Introne WJ, Perry MB et al (2002) Natural history of alkaptonuria. N Engl J Med 347:2111–2121
Ranganath L, Taylor AM, Shenkin A et al (2011) Identification of alkaptonuria in the general population: a United Kingdom experience describing the challenges, possible solutions and persistent barriers. J Inherit Metab Dis. doi:10.1007/s10545-011-9282-z
Roser M, Möller J, Komoda T et al (2008) Alkaptonuric aortic stenosis. Eur Heart J 29:444
Vavuranakis M, Triantafillidi H, Stefanadis C et al (1998) Aortic stenosis and coronary artery disease caused by alkaptonuria, a rare genetic metabolic syndrome. Cardiology 90:302–304
Wilke A, Steverding D (2009) Ochronosis as an unusual cause of valvular defect: a case report. J Med Case Reports 3:9302
Yoshikai M, Murayama J, Yameda N (2004) Aortic valve regurgitation in alkaptonuria. J Heart Valve Dis 13:863–865
Zund G, Schmid AC, Vogt PR et al. (1999) Green aortic valve: alcaptonuria (ochronosis) with severe aortic stenosis. Ann Thorac Surg 67:1805
Author information
Authors and Affiliations
Corresponding author
Additional information
Communicated by: K. Michael Gibson
Competing interest: None declared.
Rights and permissions
About this article
Cite this article
Pettit, S.J., Fisher, M., Gallagher, J.A. et al. Cardiovascular manifestations of Alkaptonuria. J Inherit Metab Dis 34, 1177–1181 (2011). https://doi.org/10.1007/s10545-011-9339-z
Received:
Revised:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s10545-011-9339-z