Cardiovascular manifestations of Alkaptonuria

J Inherit Metab Dis. 2011 Dec;34(6):1177-81. doi: 10.1007/s10545-011-9339-z. Epub 2011 Apr 20.

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.

MeSH terms

  • Adult
  • Age Distribution
  • Aged
  • Alkaptonuria / epidemiology*
  • Aortic Valve / diagnostic imaging*
  • Aortic Valve / pathology
  • Aortic Valve Stenosis / diagnosis
  • Aortic Valve Stenosis / epidemiology*
  • Causality
  • Cohort Studies
  • Comorbidity
  • Coronary Artery Disease / diagnosis
  • Coronary Artery Disease / epidemiology*
  • Echocardiography / methods
  • Female
  • Heart Valve Diseases / diagnosis
  • Heart Valve Diseases / epidemiology*
  • Humans
  • Male
  • Middle Aged