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Aortic distensibility in alkaptonuria.

Rashmi Thimmapuram1, W Patricia Bandettini1, Sujata M Shanbhag1

  • 1National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, United States of America.

Molecular Genetics and Metabolism
|May 30, 2020
PubMed
Summary
This summary is machine-generated.

Alkaptonuria (AKU) patients show impaired aortic distensibility, a potential early sign of cardiovascular issues. This condition is linked to age, hypertension, hyperlipidemia, and calcification.

Keywords:
AlkaptonuriaAortic distensibilityAortic stiffnessHereditary ochronosisHomogentisic acid

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Area of Science:

  • Cardiovascular Medicine
  • Metabolic Disorders
  • Medical Imaging

Background:

  • Alkaptonuria (AKU) is a rare inherited metabolic disorder.
  • It leads to the accumulation of homogentisic acid oxidation products.
  • Cardiovascular complications are a known concern in AKU, with aortic distensibility potentially serving as an indicator.

Purpose of the Study:

  • To investigate descending thoracic aortic distensibility in patients with Alkaptonuria (AKU).
  • To identify factors associated with impaired aortic distensibility in AKU.
  • To assess aortic distensibility as a potential non-invasive marker for cardiovascular complications in AKU.

Main Methods:

  • Seventy-six patients diagnosed with Alkaptonuria (AKU) were included in the study.
  • Magnetic Resonance Imaging (MRI) and cardiovascular computed tomography were utilized.
  • Descending thoracic aortic distensibility was determined using MRI cine images.

Main Results:

  • Aortic distensibility was significantly impaired in AKU patients compared to normal values.
  • Impaired distensibility was inversely related to age and associated with hypertension and hyperlipidemia.
  • Factors like aortic and coronary calcification also correlated with reduced distensibility, with age being the only significant independent risk factor.

Conclusions:

  • Patients with Alkaptonuria exhibit impaired aortic distensibility.
  • This impairment may serve as an early indicator of reduced cardiovascular health in AKU.
  • Age, hypertension, hyperlipidemia, and calcification are associated with impaired aortic distensibility in AKU.