Aortic stenosis in a patient with Hurler's syndrome after bone marrow transplantation

2011 ◽  
Vol 21 (3) ◽  
pp. 349-350 ◽  
Author(s):  
Naruhito Watanabe ◽  
Petros V. Anagnostopoulos ◽  
Anthony Azakie
Keyword(s):  
Bone Marrow ◽  
Bone Marrow Transplantation ◽  
Aortic Valve ◽  
Aortic Stenosis ◽  
Marrow Transplantation ◽  
Aortic Valve Disease ◽  
Severe Aortic Stenosis ◽  
First Case ◽  
Pathologic Findings ◽  
Hurler’S Syndrome

AbstractWe describe a case of severe aortic stenosis in a 16-year-old male with Hurler's syndrome who had prior bone marrow transplantation. The excised aortic valve leaflets showed characteristic pathologic findings of Hurler's syndrome. This is the first case report of aortic valve replacement in a patient with Hurler's syndrome treated with bone marrow transplantation that demonstrates progression of the aortic valve disease despite treatment.

Hip Dysplasia in Hurler's Syndrome: Orthopaedic Management After Bone Marrow Transplantation

1996 ◽  
Vol 16 (6) ◽  
pp. 731-733 ◽  
Author(s):  
E. L. Masterson ◽  
P. G. Murphy ◽  
A. O'Meara ◽  
D. P. Moore ◽  
F. E. Dowling ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Bone Marrow Transplantation ◽  
Marrow Transplantation ◽  
Hip Dysplasia ◽  
Hurler’S Syndrome

Cardiac pathologic findings in patients treated with bone marrow transplantation

1976 ◽  
Vol 7 (1) ◽  
pp. 17-45 ◽  
Author(s):  
L. Maximilian Buja ◽  
Victor J. Ferrans ◽  
Robert G. Graw
Keyword(s):  
Bone Marrow ◽  
Bone Marrow Transplantation ◽  
Marrow Transplantation ◽  
Pathologic Findings

Fatal disseminated adenovirus type 2 infection following bone marrow transplantation for Hurler's syndrome: A primary infection

1993 ◽  
Vol 26 (2) ◽  
pp. 181-184 ◽  
Author(s):  
David J. Morris ◽  
Gerald Corbitt ◽  
Andrew S. Bailey ◽  
Melanie Newbould ◽  
Elaine Smith ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Bone Marrow Transplantation ◽  
Marrow Transplantation ◽  
Primary Infection ◽  
Adenovirus Type ◽  
Hurler’S Syndrome ◽  
Adenovirus Type 2

Hip Dysplasia in Hurler's Syndrome: Orthopaedic Management After Bone Marrow Transplantation

1996 ◽  
pp. 731-733 ◽  
Author(s):  
E. L. Masterson ◽  
P. G. Murphy ◽  
A. O'Meara ◽  
D. P. Moore ◽  
F. E. Dowling ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Bone Marrow Transplantation ◽  
Marrow Transplantation ◽  
Hip Dysplasia ◽  
Hurler’S Syndrome

scholarly journals Circulating and tissue matricellular RNA and protein expression in calcific aortic valve disease

2020 ◽  
Vol 52 (4) ◽  
pp. 191-199 ◽  
Author(s):  
Alexander P. Kossar ◽  
Wanda Anselmo ◽  
Juan B. Grau ◽  
Yichuan Liu ◽  
Aeron Small ◽  
...  
Keyword(s):  
Extracellular Matrix ◽  
Aortic Valve ◽  
Aortic Stenosis ◽  
Protein Expression ◽  
Aortic Valve Disease ◽  
Severe Aortic Stenosis ◽  
Valve Disease ◽  
Circulating Biomarkers ◽  
Calcific Aortic Valve Disease ◽  
Aortic Valve Sclerosis

Aortic valve sclerosis is a highly prevalent, poorly characterized asymptomatic manifestation of calcific aortic valve disease and may represent a therapeutic target for disease mitigation. Human aortic valve cusps and blood were obtained from 333 patients undergoing cardiac surgery ( n = 236 for severe aortic stenosis, n = 35 for asymptomatic aortic valve sclerosis, n = 62 for no valvular disease), and a multiplex assay was used to evaluate protein expression across the spectrum of calcific aortic valve disease. A subset of six valvular tissue samples ( n = 3 for asymptomatic aortic valve sclerosis, n = 3 for severe aortic stenosis) was used to create RNA sequencing profiles, which were subsequently organized into clinically relevant gene modules. RNA sequencing identified 182 protein-encoding, differentially expressed genes in aortic valve sclerosis vs. aortic stenosis; 85% and 89% of expressed genes overlapped in aortic stenosis and aortic valve sclerosis, respectively, which decreased to 55% and 84% when we targeted highly expressed genes. Bioinformatic analyses identified six differentially expressed genes encoding key extracellular matrix regulators: TBHS2, SPARC, COL1A2, COL1A1, SPP1, and CTGF. Differential expression of key circulating biomarkers of extracellular matrix reorganization was observed in control vs. aortic valve sclerosis (osteopontin), control vs. aortic stenosis (osteoprotegerin), and aortic valve sclerosis vs. aortic stenosis groups (MMP-2), which corresponded to valvular mRNA expression. We demonstrate distinct mRNA and protein expression underlying aortic valve sclerosis and aortic stenosis. We anticipate that extracellular matrix regulators can serve as circulating biomarkers of early calcific aortic valve disease and as novel targets for early disease mitigation, pending prospective clinical investigations.

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