The mild form of mucopolysaccharidosis type I (Scheie syndrome) is associated with increased ascending aortic stiffness
Mucopolysaccharidosis type I (MPS IS) is a rare autosomal recessive disease caused by a deficiency of the lysosomal enzyme α- L -iduronidase, which is involved in the degradation of sulfated glycosaminoglycans (GAGs). The deficiency results in the intra-and pericellular accumulation of the GAGs hepa...
Gespeichert in:
| Veröffentlicht in: | Heart and vessels 2008-03, Vol.23 (2), p.108-111 |
|---|---|
| Hauptverfasser: | , , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 111 |
|---|---|
| container_issue | 2 |
| container_start_page | 108 |
| container_title | Heart and vessels |
| container_volume | 23 |
| creator | Nemes, Attila Timmermans, Remco G. M. Wilson, J. H. P. Soliman, Osama I. I. Krenning, Boudewijn J. ten Cate, Folkert J. Geleijnse, Marcel L. |
| description | Mucopolysaccharidosis type I (MPS IS) is a rare autosomal recessive disease caused by a deficiency of the lysosomal enzyme α-
L
-iduronidase, which is involved in the degradation of sulfated glycosaminoglycans (GAGs). The deficiency results in the intra-and pericellular accumulation of the GAGs heparan sulfate and dermatan sulfate. Eight adult patients with typical features of MPS IS aged 31.5 ± 6.8 years (five men) were included and compared to age-and gender-matched controls. With transthoracic echocardiography, cyclic ascending aortic diameter changes were measured and ascending aortic elastic properties were calculated to characterize aortic elasticity. In MPS IS patients, aortic stiffness index was significantly increased (23.1 ± 10.4 vs 3.9 ± 1.5,
P
< 0.001), while aortic distensibility was significantly decreased (1.6 ± 0.8 vs 1.6 ± 1.9 Ca
2
/dynes 10
−6
,
P
< 0.001) compared to age-and sex-matched controls. The results of the present study demonstrate that in addition to the known cardiac complications, MPS IS patients have an impairment of ascending aortic elasticity. Further follow-up studies are needed to examine arterial elasticity using other methods in this patient population, and to detect possible effects of enzyme replacement therapy. |
| doi_str_mv | 10.1007/s00380-007-1013-x |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_70470203</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>1461713831</sourcerecordid><originalsourceid>FETCH-LOGICAL-c393t-5731cf58be668a0766a2b1c58911c6fa1ca26f3a5a3d65c12706e6137c6feec03</originalsourceid><addsrcrecordid>eNp1kU9r3DAQxUVpaDZpP0AvRfRQ0oPbGauS7WMJ_RMI5JD0LLTyKKtgW1uNTbLfPlp2oaXQ08zwfvM04gnxFuETAjSfGUC1UJW2QkBVPb0QKzSoq1o36qVYQYdQtapuTsUZ8wMA6g67V-IUW9V2SumVeLzbkBzj0MuQ8ihTkOPi0zYNO3beb1yOfeLIct5tSV7Ji1u_oUiSd1Of00gfZdEcc_LRzdTLxzhvZJx8JsdldOxp6uN0L13Kc_SS5xjCRMyvxUlwA9ObYz0Xv75_u7v8WV3f_Li6_HpdedWpuSr_QB90uyZjWgeNMa5eo9dth-hNcOhdbYJy2qneaI91A4YMqqaIRB7Uufhw8N3m9Hshnu0Yy1HD4CZKC9sGvjRQgyrg-3_Ah7TkqdxmsTMdKDS6QHiAfE7MmYLd5ji6vLMIdh-JPURi9-0-EvtUdt4djZf1SP2fjWMGBagPABdpuqf818v_dX0Gvl6YRw</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>196903165</pqid></control><display><type>article</type><title>The mild form of mucopolysaccharidosis type I (Scheie syndrome) is associated with increased ascending aortic stiffness</title><source>MEDLINE</source><source>Springer Nature - Complete Springer Journals</source><creator>Nemes, Attila ; Timmermans, Remco G. M. ; Wilson, J. H. P. ; Soliman, Osama I. I. ; Krenning, Boudewijn J. ; ten Cate, Folkert J. ; Geleijnse, Marcel L.</creator><creatorcontrib>Nemes, Attila ; Timmermans, Remco G. M. ; Wilson, J. H. P. ; Soliman, Osama I. I. ; Krenning, Boudewijn J. ; ten Cate, Folkert J. ; Geleijnse, Marcel L.</creatorcontrib><description>Mucopolysaccharidosis type I (MPS IS) is a rare autosomal recessive disease caused by a deficiency of the lysosomal enzyme α-
L
-iduronidase, which is involved in the degradation of sulfated glycosaminoglycans (GAGs). The deficiency results in the intra-and pericellular accumulation of the GAGs heparan sulfate and dermatan sulfate. Eight adult patients with typical features of MPS IS aged 31.5 ± 6.8 years (five men) were included and compared to age-and gender-matched controls. With transthoracic echocardiography, cyclic ascending aortic diameter changes were measured and ascending aortic elastic properties were calculated to characterize aortic elasticity. In MPS IS patients, aortic stiffness index was significantly increased (23.1 ± 10.4 vs 3.9 ± 1.5,
P
< 0.001), while aortic distensibility was significantly decreased (1.6 ± 0.8 vs 1.6 ± 1.9 Ca
2
/dynes 10
−6
,
P
< 0.001) compared to age-and sex-matched controls. The results of the present study demonstrate that in addition to the known cardiac complications, MPS IS patients have an impairment of ascending aortic elasticity. Further follow-up studies are needed to examine arterial elasticity using other methods in this patient population, and to detect possible effects of enzyme replacement therapy.</description><identifier>ISSN: 0910-8327</identifier><identifier>EISSN: 1615-2573</identifier><identifier>DOI: 10.1007/s00380-007-1013-x</identifier><identifier>PMID: 18389335</identifier><identifier>CODEN: HEVEEO</identifier><language>eng</language><publisher>Japan: Springer Japan</publisher><subject>Adult ; Aorta - diagnostic imaging ; Aorta - physiopathology ; Biomedical Engineering and Bioengineering ; Blood Pressure ; Cardiac Surgery ; Cardiology ; Cardiovascular disease ; Case-Control Studies ; Coronary vessels ; Echocardiography, Doppler ; Elasticity ; Enzymes ; Female ; Humans ; Male ; Medicine ; Medicine & Public Health ; Metabolic disorders ; Mucopolysaccharidosis I - diagnostic imaging ; Mucopolysaccharidosis I - physiopathology ; Original Article ; Phenotype ; Severity of Illness Index ; Vascular Surgery ; Young Adult</subject><ispartof>Heart and vessels, 2008-03, Vol.23 (2), p.108-111</ispartof><rights>Springer Japan 2008</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c393t-5731cf58be668a0766a2b1c58911c6fa1ca26f3a5a3d65c12706e6137c6feec03</citedby><cites>FETCH-LOGICAL-c393t-5731cf58be668a0766a2b1c58911c6fa1ca26f3a5a3d65c12706e6137c6feec03</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s00380-007-1013-x$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s00380-007-1013-x$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,778,782,27907,27908,41471,42540,51302</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/18389335$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Nemes, Attila</creatorcontrib><creatorcontrib>Timmermans, Remco G. M.</creatorcontrib><creatorcontrib>Wilson, J. H. P.</creatorcontrib><creatorcontrib>Soliman, Osama I. I.</creatorcontrib><creatorcontrib>Krenning, Boudewijn J.</creatorcontrib><creatorcontrib>ten Cate, Folkert J.</creatorcontrib><creatorcontrib>Geleijnse, Marcel L.</creatorcontrib><title>The mild form of mucopolysaccharidosis type I (Scheie syndrome) is associated with increased ascending aortic stiffness</title><title>Heart and vessels</title><addtitle>Heart Vessels</addtitle><addtitle>Heart Vessels</addtitle><description>Mucopolysaccharidosis type I (MPS IS) is a rare autosomal recessive disease caused by a deficiency of the lysosomal enzyme α-
L
-iduronidase, which is involved in the degradation of sulfated glycosaminoglycans (GAGs). The deficiency results in the intra-and pericellular accumulation of the GAGs heparan sulfate and dermatan sulfate. Eight adult patients with typical features of MPS IS aged 31.5 ± 6.8 years (five men) were included and compared to age-and gender-matched controls. With transthoracic echocardiography, cyclic ascending aortic diameter changes were measured and ascending aortic elastic properties were calculated to characterize aortic elasticity. In MPS IS patients, aortic stiffness index was significantly increased (23.1 ± 10.4 vs 3.9 ± 1.5,
P
< 0.001), while aortic distensibility was significantly decreased (1.6 ± 0.8 vs 1.6 ± 1.9 Ca
2
/dynes 10
−6
,
P
< 0.001) compared to age-and sex-matched controls. The results of the present study demonstrate that in addition to the known cardiac complications, MPS IS patients have an impairment of ascending aortic elasticity. Further follow-up studies are needed to examine arterial elasticity using other methods in this patient population, and to detect possible effects of enzyme replacement therapy.</description><subject>Adult</subject><subject>Aorta - diagnostic imaging</subject><subject>Aorta - physiopathology</subject><subject>Biomedical Engineering and Bioengineering</subject><subject>Blood Pressure</subject><subject>Cardiac Surgery</subject><subject>Cardiology</subject><subject>Cardiovascular disease</subject><subject>Case-Control Studies</subject><subject>Coronary vessels</subject><subject>Echocardiography, Doppler</subject><subject>Elasticity</subject><subject>Enzymes</subject><subject>Female</subject><subject>Humans</subject><subject>Male</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>Metabolic disorders</subject><subject>Mucopolysaccharidosis I - diagnostic imaging</subject><subject>Mucopolysaccharidosis I - physiopathology</subject><subject>Original Article</subject><subject>Phenotype</subject><subject>Severity of Illness Index</subject><subject>Vascular Surgery</subject><subject>Young Adult</subject><issn>0910-8327</issn><issn>1615-2573</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2008</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>8G5</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><sourceid>GUQSH</sourceid><sourceid>M2O</sourceid><recordid>eNp1kU9r3DAQxUVpaDZpP0AvRfRQ0oPbGauS7WMJ_RMI5JD0LLTyKKtgW1uNTbLfPlp2oaXQ08zwfvM04gnxFuETAjSfGUC1UJW2QkBVPb0QKzSoq1o36qVYQYdQtapuTsUZ8wMA6g67V-IUW9V2SumVeLzbkBzj0MuQ8ihTkOPi0zYNO3beb1yOfeLIct5tSV7Ji1u_oUiSd1Of00gfZdEcc_LRzdTLxzhvZJx8JsdldOxp6uN0L13Kc_SS5xjCRMyvxUlwA9ObYz0Xv75_u7v8WV3f_Li6_HpdedWpuSr_QB90uyZjWgeNMa5eo9dth-hNcOhdbYJy2qneaI91A4YMqqaIRB7Uufhw8N3m9Hshnu0Yy1HD4CZKC9sGvjRQgyrg-3_Ah7TkqdxmsTMdKDS6QHiAfE7MmYLd5ji6vLMIdh-JPURi9-0-EvtUdt4djZf1SP2fjWMGBagPABdpuqf818v_dX0Gvl6YRw</recordid><startdate>20080301</startdate><enddate>20080301</enddate><creator>Nemes, Attila</creator><creator>Timmermans, Remco G. M.</creator><creator>Wilson, J. H. P.</creator><creator>Soliman, Osama I. I.</creator><creator>Krenning, Boudewijn J.</creator><creator>ten Cate, Folkert J.</creator><creator>Geleijnse, Marcel L.</creator><general>Springer Japan</general><general>Springer Nature B.V</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7QO</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8FD</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>8G5</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>GUQSH</scope><scope>K9.</scope><scope>M0S</scope><scope>M1P</scope><scope>M2O</scope><scope>MBDVC</scope><scope>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>Q9U</scope><scope>7X8</scope></search><sort><creationdate>20080301</creationdate><title>The mild form of mucopolysaccharidosis type I (Scheie syndrome) is associated with increased ascending aortic stiffness</title><author>Nemes, Attila ; Timmermans, Remco G. M. ; Wilson, J. H. P. ; Soliman, Osama I. I. ; Krenning, Boudewijn J. ; ten Cate, Folkert J. ; Geleijnse, Marcel L.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c393t-5731cf58be668a0766a2b1c58911c6fa1ca26f3a5a3d65c12706e6137c6feec03</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2008</creationdate><topic>Adult</topic><topic>Aorta - diagnostic imaging</topic><topic>Aorta - physiopathology</topic><topic>Biomedical Engineering and Bioengineering</topic><topic>Blood Pressure</topic><topic>Cardiac Surgery</topic><topic>Cardiology</topic><topic>Cardiovascular disease</topic><topic>Case-Control Studies</topic><topic>Coronary vessels</topic><topic>Echocardiography, Doppler</topic><topic>Elasticity</topic><topic>Enzymes</topic><topic>Female</topic><topic>Humans</topic><topic>Male</topic><topic>Medicine</topic><topic>Medicine & Public Health</topic><topic>Metabolic disorders</topic><topic>Mucopolysaccharidosis I - diagnostic imaging</topic><topic>Mucopolysaccharidosis I - physiopathology</topic><topic>Original Article</topic><topic>Phenotype</topic><topic>Severity of Illness Index</topic><topic>Vascular Surgery</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Nemes, Attila</creatorcontrib><creatorcontrib>Timmermans, Remco G. M.</creatorcontrib><creatorcontrib>Wilson, J. H. P.</creatorcontrib><creatorcontrib>Soliman, Osama I. I.</creatorcontrib><creatorcontrib>Krenning, Boudewijn J.</creatorcontrib><creatorcontrib>ten Cate, Folkert J.</creatorcontrib><creatorcontrib>Geleijnse, Marcel L.</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Biotechnology Research Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Technology Research Database</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>Research Library (Alumni Edition)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>ProQuest Central</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>Research Library Prep</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Research Library</collection><collection>Research Library (Corporate)</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>ProQuest Central Basic</collection><collection>MEDLINE - Academic</collection><jtitle>Heart and vessels</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Nemes, Attila</au><au>Timmermans, Remco G. M.</au><au>Wilson, J. H. P.</au><au>Soliman, Osama I. I.</au><au>Krenning, Boudewijn J.</au><au>ten Cate, Folkert J.</au><au>Geleijnse, Marcel L.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>The mild form of mucopolysaccharidosis type I (Scheie syndrome) is associated with increased ascending aortic stiffness</atitle><jtitle>Heart and vessels</jtitle><stitle>Heart Vessels</stitle><addtitle>Heart Vessels</addtitle><date>2008-03-01</date><risdate>2008</risdate><volume>23</volume><issue>2</issue><spage>108</spage><epage>111</epage><pages>108-111</pages><issn>0910-8327</issn><eissn>1615-2573</eissn><coden>HEVEEO</coden><abstract>Mucopolysaccharidosis type I (MPS IS) is a rare autosomal recessive disease caused by a deficiency of the lysosomal enzyme α-
L
-iduronidase, which is involved in the degradation of sulfated glycosaminoglycans (GAGs). The deficiency results in the intra-and pericellular accumulation of the GAGs heparan sulfate and dermatan sulfate. Eight adult patients with typical features of MPS IS aged 31.5 ± 6.8 years (five men) were included and compared to age-and gender-matched controls. With transthoracic echocardiography, cyclic ascending aortic diameter changes were measured and ascending aortic elastic properties were calculated to characterize aortic elasticity. In MPS IS patients, aortic stiffness index was significantly increased (23.1 ± 10.4 vs 3.9 ± 1.5,
P
< 0.001), while aortic distensibility was significantly decreased (1.6 ± 0.8 vs 1.6 ± 1.9 Ca
2
/dynes 10
−6
,
P
< 0.001) compared to age-and sex-matched controls. The results of the present study demonstrate that in addition to the known cardiac complications, MPS IS patients have an impairment of ascending aortic elasticity. Further follow-up studies are needed to examine arterial elasticity using other methods in this patient population, and to detect possible effects of enzyme replacement therapy.</abstract><cop>Japan</cop><pub>Springer Japan</pub><pmid>18389335</pmid><doi>10.1007/s00380-007-1013-x</doi><tpages>4</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0910-8327 |
| ispartof | Heart and vessels, 2008-03, Vol.23 (2), p.108-111 |
| issn | 0910-8327 1615-2573 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_70470203 |
| source | MEDLINE; Springer Nature - Complete Springer Journals |
| subjects | Adult Aorta - diagnostic imaging Aorta - physiopathology Biomedical Engineering and Bioengineering Blood Pressure Cardiac Surgery Cardiology Cardiovascular disease Case-Control Studies Coronary vessels Echocardiography, Doppler Elasticity Enzymes Female Humans Male Medicine Medicine & Public Health Metabolic disorders Mucopolysaccharidosis I - diagnostic imaging Mucopolysaccharidosis I - physiopathology Original Article Phenotype Severity of Illness Index Vascular Surgery Young Adult |
| title | The mild form of mucopolysaccharidosis type I (Scheie syndrome) is associated with increased ascending aortic stiffness |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-16T12%3A57%3A45IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=The%20mild%20form%20of%20mucopolysaccharidosis%20type%20I%20(Scheie%20syndrome)%20is%20associated%20with%20increased%20ascending%20aortic%20stiffness&rft.jtitle=Heart%20and%20vessels&rft.au=Nemes,%20Attila&rft.date=2008-03-01&rft.volume=23&rft.issue=2&rft.spage=108&rft.epage=111&rft.pages=108-111&rft.issn=0910-8327&rft.eissn=1615-2573&rft.coden=HEVEEO&rft_id=info:doi/10.1007/s00380-007-1013-x&rft_dat=%3Cproquest_cross%3E1461713831%3C/proquest_cross%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=196903165&rft_id=info:pmid/18389335&rfr_iscdi=true |