Aortic distensibility in alkaptonuria.
Alkaptonuria
Aortic distensibility
Aortic stiffness
Hereditary ochronosis
Homogentisic acid
Journal
Molecular genetics and metabolism
ISSN: 1096-7206
Titre abrégé: Mol Genet Metab
Pays: United States
ID NLM: 9805456
Informations de publication
Date de publication:
08 2020
08 2020
Historique:
received:
09
12
2019
revised:
11
05
2020
accepted:
13
05
2020
pubmed:
30
5
2020
medline:
4
5
2021
entrez:
30
5
2020
Statut:
ppublish
Résumé
Alkaptonuria (AKU) is a rare inherited disorder of tyrosine metabolism resulting in an accumulation of homogentisic acid oxidation products in the joints and cardiovascular system. Aortic distensibility may be a non-invasive indicator of cardiovascular complications. Descending thoracic aortic distensibility in alkaptonuria has not been studied. Patients diagnosed with alkaptonuria underwent Magnetic Resonance Imaging (MRI) and gated non-contrast and contrast-enhanced cardiovascular computed tomography. Using MRI cine images, aortic distensibility of the descending thoracic aorta was determined. Seventy-six patients with alkaptonuria were imaged. When compared to literature normal values, aortic distensibility in AKU was impaired (5.2 vs 6.2 × 10 Patients with alkaptonuria have impaired aortic distensibility, which is likely an early marker for reduced cardiovascular health. Variables such as age, hypertension, hyperlipidemia, and aortic and coronary calcification were associated with impaired distensibility.
Identifiants
pubmed: 32466960
pii: S1096-7192(20)30120-7
doi: 10.1016/j.ymgme.2020.05.006
pii:
doi:
Types de publication
Journal Article
Research Support, N.I.H., Intramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
289-296Informations de copyright
Published by Elsevier Inc.