Late diagnosis of mucopolysaccharidosis type IVB and successful aortic valve replacement in a 60-year-old female patient
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F18%3A10377028" target="_blank" >RIV/00216208:11110/18:10377028 - isvavai.cz</a>
Alternative codes found
RIV/00064165:_____/18:10377028
Result on the web
<a href="https://doi.org/10.1016/j.carpath.2018.04.001" target="_blank" >https://doi.org/10.1016/j.carpath.2018.04.001</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1016/j.carpath.2018.04.001" target="_blank" >10.1016/j.carpath.2018.04.001</a>
Alternative languages
Result language
angličtina
Original language name
Late diagnosis of mucopolysaccharidosis type IVB and successful aortic valve replacement in a 60-year-old female patient
Original language description
Mucopolysaccharidosis type IVB (MPS NB) is a very rare lysosomal storage disorder characterized by skeletal dysplasia, hearing disorder, and cardiac valvular disease. Herein, we report an extremely rare manifestation of MPS IVB in a 60-year-old female patient who underwent a successful aortic valve replacement. The patient presented with mild coarse facial features, short stature, mild dyspnea, sternal protrusion, mild lumbar hyperlordosis, and waddling gait owing to bilateral femoral head necroses and bilateral arthrosis of the knees. The patient also suffered from dyspnea, NYHA Echocardiography revealed severe stenosis of a calcified aortic valve (AVA 0.67 cm(2), AVAi 0.45 cm(2)/m(2), PG max/mean 130/80 mmHg), left ventricular hypertrophy with predominant septal thickening (18 mm) and mild left ventricle outflow tract obstruction at rest, mild mitral valve regurgitation, and dilated ascending aorta (36 mm, 26.5 mm/m(2)).Dyspnea resolved after septal myectomy and replacement of the aortic valve with bioprosthesis. Excretion levels and spectrum of glycosaminoglycans (GAGS) in urine were normal in the patient We confirmed the diagnosis of MPS IVB by identifying decreased beta-galactosidase activity in isolated leukocytes (6 nmol/h/mg. controls 95-272) and by molecular genetic analyses (c 438_440deITCT and c.817_818TG>CT mutations in the GLB 1 gene). Primary lysosomal storage of glycosaminoglycans was detected in fibroblasts of the aortic valve. Additional pathologies included valvular fibrosis, calcification, neovascularization, and mild chronic inflammation. In conclusion, the diagnosis of MPS IVB should be considered in older patients with cardiac valvular disease and progressive skeletal abnormality even if urinary excretion levels of GAGs are normal.
Czech name
—
Czech description
—
Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
—
OECD FORD branch
30201 - Cardiac and Cardiovascular systems
Result continuities
Project
<a href="/en/project/NV15-27682A" target="_blank" >NV15-27682A: Next generation sequencing for early diagnosis and individualized treatment of dilated cardiomyopathy and related forms of cardiomyopathy</a><br>
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2018
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Cardiovascular Pathology
ISSN
1054-8807
e-ISSN
—
Volume of the periodical
35
Issue of the periodical within the volume
July-August
Country of publishing house
US - UNITED STATES
Number of pages
5
Pages from-to
52-56
UT code for WoS article
000436777700009
EID of the result in the Scopus database
2-s2.0-85047424042