Combined valve replacement and aortocoronary bypass in an adult mucopolysaccharidosis type VII patient

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064190%3A_____%2F21%3AN0000126" target="_blank" >RIV/00064190:_____/21:N0000126 - isvavai.cz</a>

Alternative codes found

RIV/00216208:11120/21:43920653 RIV/00216208:11110/21:10416374 RIV/00064165:_____/21:10416374 RIV/00064173:_____/21:N0000088

Result on the web

<a href="http://dx.doi.org/10.1016/j.carpath.2020.107297" target="_blank" >http://dx.doi.org/10.1016/j.carpath.2020.107297</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1016/j.carpath.2020.107297" target="_blank" >10.1016/j.carpath.2020.107297</a>

Result language

angličtina

Original language name

Combined valve replacement and aortocoronary bypass in an adult mucopolysaccharidosis type VII patient

Original language description

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 beta-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(2)) and moderate regurgitation. Severe mitral valve stenosis (valve area 1 cm2) with moderate to severe regurgitation was also found in the patient. In addition, an occlusion of the right coronary artery (RCA) was documented. The patient underwent surgical replacement of the mitral and aortic valves with mechanical prostheses and implantation of a venous bypass graft to his RCA. The surgery led to a significant improvement of his clinical symptoms. Six months after the procedure, both mechanical valves function normally. Histopathological assessment identified chronic inflammatory infiltrates, fibrosis and calcifications in both resected valves. Foamy cytoplasmic transformation was most evident in the valvular interstitial cells. The ultrastructural vacuolar abnormality seen in these cells corresponded to storage changes observed in other MPSs. In conclusion, we describe clinical findings and valvular pathology in an MPS VII patient with the first-reported successful combined surgical valve replacement and myocardial revascularization. The histological and ultrastructural analyses revealed that the lysosomal storage predominantly affected the valvular interstitial cells.

Czech name

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Czech description

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Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

—

OECD FORD branch

30201 - Cardiac and Cardiovascular systems

Project

—

Continuities

V - Vyzkumna aktivita podporovana z jinych verejnych zdroju

Publication year

2021

Confidentiality

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

Name of the periodical

CARDIOVASCULAR PATHOLOGY

ISSN

1054-8807

e-ISSN

1879-1336

Volume of the periodical

50

Issue of the periodical within the volume

01-02/2021

Country of publishing house

US - UNITED STATES

Number of pages

5

Pages from-to

Article Number: 107297

UT code for WoS article

000600975900012

EID of the result in the Scopus database

2-s2.0-85092668290