Late diagnosis of mucopolysaccharidosis type IVB and successful aortic valve replacement in a 60-year-old female patient

Kód výsledku v 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>

Nalezeny alternativní kódy

RIV/00064165:_____/18:10377028

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

Late diagnosis of mucopolysaccharidosis type IVB and successful aortic valve replacement in a 60-year-old female patient

Popis výsledku v původním jazyce

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&gt;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.

Název v anglickém jazyce

Late diagnosis of mucopolysaccharidosis type IVB and successful aortic valve replacement in a 60-year-old female patient

Popis výsledku anglicky

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&gt;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.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30201 - Cardiac and Cardiovascular systems

Projekt

<a href="/cs/project/NV15-27682A" target="_blank" >NV15-27682A: Využití metod sekvenování nové generace pro časnou diagnostiku a individualizovanou léčbu dilatační kardiomyopatie a příbuzných forem kardiomyopatií</a><br>

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2018

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Cardiovascular Pathology

ISSN

1054-8807

e-ISSN

—

Svazek periodika

35

Číslo periodika v rámci svazku

July-August

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

5

Strana od-do

52-56

Kód UT WoS článku

000436777700009

EID výsledku v databázi Scopus

2-s2.0-85047424042