Combined valve replacement and aortocoronary bypass in an adult mucopolysaccharidosis type VII patient.
Adult
Aortic Valve Insufficiency
/ diagnostic imaging
Aortic Valve Stenosis
/ diagnostic imaging
Coronary Artery Bypass
Coronary Occlusion
/ diagnostic imaging
Heart Valve Prosthesis Implantation
Humans
Male
Mitral Valve Insufficiency
/ diagnostic imaging
Mitral Valve Stenosis
/ diagnostic imaging
Mucopolysaccharidosis VII
/ complications
Severity of Illness Index
Treatment Outcome
Sly syndrome
cardiac surgery
cardiomyopathy
coronary artery disease
mucopolysaccharidosis type VII
valve replacement
valvular disease
Journal
Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology
ISSN: 1879-1336
Titre abrégé: Cardiovasc Pathol
Pays: United States
ID NLM: 9212060
Informations de publication
Date de publication:
Historique:
received:
18
08
2020
revised:
05
10
2020
accepted:
07
10
2020
pubmed:
13
10
2020
medline:
23
12
2020
entrez:
12
10
2020
Statut:
ppublish
Résumé
Mucopolysaccharidosis type VII (MPS VII) is a rare autosomal recessive lysosomal storage disorder. MPS VII is caused by mutations in the GUSB gene that encodes β-glucuronidase. Adult MPS VII patients present with musculoskeletal abnormalities, coarse features, and corneal clouding. Cardiac and valvular impairment are common; however, severe valvular disease necessitating surgery has not yet been reported. We present a 32-year-old male MPS VII patient admitted to our hospital with decompensated heart failure. We identified aortic valve disease with severe stenosis (valve area 0.69 cm
Identifiants
pubmed: 33045360
pii: S1054-8807(20)30101-0
doi: 10.1016/j.carpath.2020.107297
pii:
doi:
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
107297Informations de copyright
Copyright © 2020 Elsevier Inc. All rights reserved.