Evidence of left ventricular dysfunction in children with merosin-deficient congenital muscular dystrophy
Background Deficiency of the sarcolemmal protein dystrophin has been linked to dilated cardiomyopathy. Some children with congenital muscular dystrophy have a deficiency of the laminin α 2 chain of merosin, an extracellular matrix protein linked to dystrophin through a group of glycoproteins. It has...
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| Veröffentlicht in: | The American heart journal 1998-09, Vol.136 (3), p.474-476 |
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| creator | Spyrou, Nicos Philpot, Jo Foale, Rodney Camici, Paolo G. Muntoni, Francesco |
| description | Background Deficiency of the sarcolemmal protein dystrophin has been linked to dilated cardiomyopathy. Some children with congenital muscular dystrophy have a deficiency of the laminin α
2 chain of merosin, an extracellular matrix protein linked to dystrophin through a group of glycoproteins. It has been shown that deficiency in one of these glycoproteins is responsible for muscular dystrophy and dilated cardiomyopathy. Children with laminin α
2 deficiency may be at risk for development of cardiomyopathy.
Methods and Results We studied the cardiac function of a cohort of 16 children with congenital muscular dystrophy by using 2-dimensional echocardiography. The expression of the laminin α
2 of merosin in the patients was determined on a skin or muscle biopsy. Two of 6 merosin-deficient children had an ejection fraction |
| doi_str_mv | 10.1016/S0002-8703(98)70222-4 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_73953874</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><els_id>S0002870398702224</els_id><sourcerecordid>73953874</sourcerecordid><originalsourceid>FETCH-LOGICAL-c441t-84d6b25108b99f9a33bba25ea8118df508446e206515fbeb5449c379349d8ce83</originalsourceid><addsrcrecordid>eNqFkE2LFDEQhoMo67j6ExZyENFDa746HydZlvUDFjyo55BOKk6kOz0m6ZH59_bsDHP1VIR63qrKg9ANJe8pofLDd0II67Qi_K3R7xRhjHXiCdpQYlQnlRBP0eaCPEcvav29PiXT8gpdGcUl5WaD0v0-Bcge8BzxCLHhPeRWkl9GV3A41Lhk39KcccrYb9MYCmT8N7UtnqDMNeUuQEw-rSns5_wLcmpuxNNSLyNamXfbw0v0LLqxwqtzvUY_P93_uPvSPXz7_PXu9qHzQtDWaRHkwHpK9GBMNI7zYXCsB6cp1SH2RAshgRHZ0z4OMPRCGM-V4cIE7UHza_TmNHdX5j8L1GanVD2Mo8swL9UqbnqulVjB_gT69R-1QLS7kiZXDpYSe1RsHxXboz9rtH1UbI-5m_OCZZggXFJnp2v_9bnvqndjLC77VC8Y44pTI1fs4wmDVcY-QbH1aNFDSAV8s2FO_znkH3v6mcg</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>73953874</pqid></control><display><type>article</type><title>Evidence of left ventricular dysfunction in children with merosin-deficient congenital muscular dystrophy</title><source>MEDLINE</source><source>Access via ScienceDirect (Elsevier)</source><creator>Spyrou, Nicos ; Philpot, Jo ; Foale, Rodney ; Camici, Paolo G. ; Muntoni, Francesco</creator><creatorcontrib>Spyrou, Nicos ; Philpot, Jo ; Foale, Rodney ; Camici, Paolo G. ; Muntoni, Francesco</creatorcontrib><description>Background Deficiency of the sarcolemmal protein dystrophin has been linked to dilated cardiomyopathy. Some children with congenital muscular dystrophy have a deficiency of the laminin α
2 chain of merosin, an extracellular matrix protein linked to dystrophin through a group of glycoproteins. It has been shown that deficiency in one of these glycoproteins is responsible for muscular dystrophy and dilated cardiomyopathy. Children with laminin α
2 deficiency may be at risk for development of cardiomyopathy.
Methods and Results We studied the cardiac function of a cohort of 16 children with congenital muscular dystrophy by using 2-dimensional echocardiography. The expression of the laminin α
2 of merosin in the patients was determined on a skin or muscle biopsy. Two of 6 merosin-deficient children had an ejection fraction <40%. The average ejection fraction of the merosin-deficient children was 43% ± 11%, which was significantly lower than the merosin-positive children (53% ± 5%,
P = .03).
Conclusions This study suggests that a deficiency of laminin α
2 can give rise to dilated cardiomyopathy, supporting the idea that defects of dystrophin, or of associated proteins, can cause dilated cardiomyopathy in addition to muscular dystrophy. (Am Heart J 1998;136:474-6.)</description><identifier>ISSN: 0002-8703</identifier><identifier>EISSN: 1097-6744</identifier><identifier>DOI: 10.1016/S0002-8703(98)70222-4</identifier><identifier>PMID: 9736139</identifier><identifier>CODEN: AHJOA2</identifier><language>eng</language><publisher>New York, NY: Mosby, Inc</publisher><subject>Adolescent ; Biological and medical sciences ; Biopsy ; Cardiomyopathy, Dilated - diagnostic imaging ; Cardiomyopathy, Dilated - etiology ; Cardiomyopathy, Dilated - metabolism ; Child ; Child, Preschool ; Diseases of striated muscles. Neuromuscular diseases ; Echocardiography ; Female ; Humans ; Infant ; Laminin - deficiency ; Male ; Medical sciences ; Muscles - metabolism ; Muscular Dystrophies - complications ; Muscular Dystrophies - diagnostic imaging ; Muscular Dystrophies - metabolism ; Neurology ; Skin - metabolism ; Ventricular Dysfunction, Left - diagnostic imaging ; Ventricular Dysfunction, Left - etiology ; Ventricular Dysfunction, Left - metabolism</subject><ispartof>The American heart journal, 1998-09, Vol.136 (3), p.474-476</ispartof><rights>1998 Mosby, Inc.</rights><rights>1998 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c441t-84d6b25108b99f9a33bba25ea8118df508446e206515fbeb5449c379349d8ce83</citedby><cites>FETCH-LOGICAL-c441t-84d6b25108b99f9a33bba25ea8118df508446e206515fbeb5449c379349d8ce83</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://dx.doi.org/10.1016/S0002-8703(98)70222-4$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,780,784,3550,27924,27925,45995</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=2373196$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/9736139$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Spyrou, Nicos</creatorcontrib><creatorcontrib>Philpot, Jo</creatorcontrib><creatorcontrib>Foale, Rodney</creatorcontrib><creatorcontrib>Camici, Paolo G.</creatorcontrib><creatorcontrib>Muntoni, Francesco</creatorcontrib><title>Evidence of left ventricular dysfunction in children with merosin-deficient congenital muscular dystrophy</title><title>The American heart journal</title><addtitle>Am Heart J</addtitle><description>Background Deficiency of the sarcolemmal protein dystrophin has been linked to dilated cardiomyopathy. Some children with congenital muscular dystrophy have a deficiency of the laminin α
2 chain of merosin, an extracellular matrix protein linked to dystrophin through a group of glycoproteins. It has been shown that deficiency in one of these glycoproteins is responsible for muscular dystrophy and dilated cardiomyopathy. Children with laminin α
2 deficiency may be at risk for development of cardiomyopathy.
Methods and Results We studied the cardiac function of a cohort of 16 children with congenital muscular dystrophy by using 2-dimensional echocardiography. The expression of the laminin α
2 of merosin in the patients was determined on a skin or muscle biopsy. Two of 6 merosin-deficient children had an ejection fraction <40%. The average ejection fraction of the merosin-deficient children was 43% ± 11%, which was significantly lower than the merosin-positive children (53% ± 5%,
P = .03).
Conclusions This study suggests that a deficiency of laminin α
2 can give rise to dilated cardiomyopathy, supporting the idea that defects of dystrophin, or of associated proteins, can cause dilated cardiomyopathy in addition to muscular dystrophy. (Am Heart J 1998;136:474-6.)</description><subject>Adolescent</subject><subject>Biological and medical sciences</subject><subject>Biopsy</subject><subject>Cardiomyopathy, Dilated - diagnostic imaging</subject><subject>Cardiomyopathy, Dilated - etiology</subject><subject>Cardiomyopathy, Dilated - metabolism</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Diseases of striated muscles. Neuromuscular diseases</subject><subject>Echocardiography</subject><subject>Female</subject><subject>Humans</subject><subject>Infant</subject><subject>Laminin - deficiency</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Muscles - metabolism</subject><subject>Muscular Dystrophies - complications</subject><subject>Muscular Dystrophies - diagnostic imaging</subject><subject>Muscular Dystrophies - metabolism</subject><subject>Neurology</subject><subject>Skin - metabolism</subject><subject>Ventricular Dysfunction, Left - diagnostic imaging</subject><subject>Ventricular Dysfunction, Left - etiology</subject><subject>Ventricular Dysfunction, Left - metabolism</subject><issn>0002-8703</issn><issn>1097-6744</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1998</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkE2LFDEQhoMo67j6ExZyENFDa746HydZlvUDFjyo55BOKk6kOz0m6ZH59_bsDHP1VIR63qrKg9ANJe8pofLDd0II67Qi_K3R7xRhjHXiCdpQYlQnlRBP0eaCPEcvav29PiXT8gpdGcUl5WaD0v0-Bcge8BzxCLHhPeRWkl9GV3A41Lhk39KcccrYb9MYCmT8N7UtnqDMNeUuQEw-rSns5_wLcmpuxNNSLyNamXfbw0v0LLqxwqtzvUY_P93_uPvSPXz7_PXu9qHzQtDWaRHkwHpK9GBMNI7zYXCsB6cp1SH2RAshgRHZ0z4OMPRCGM-V4cIE7UHza_TmNHdX5j8L1GanVD2Mo8swL9UqbnqulVjB_gT69R-1QLS7kiZXDpYSe1RsHxXboz9rtH1UbI-5m_OCZZggXFJnp2v_9bnvqndjLC77VC8Y44pTI1fs4wmDVcY-QbH1aNFDSAV8s2FO_znkH3v6mcg</recordid><startdate>19980901</startdate><enddate>19980901</enddate><creator>Spyrou, Nicos</creator><creator>Philpot, Jo</creator><creator>Foale, Rodney</creator><creator>Camici, Paolo G.</creator><creator>Muntoni, Francesco</creator><general>Mosby, Inc</general><general>Elsevier</general><scope>IQODW</scope><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>7X8</scope></search><sort><creationdate>19980901</creationdate><title>Evidence of left ventricular dysfunction in children with merosin-deficient congenital muscular dystrophy</title><author>Spyrou, Nicos ; Philpot, Jo ; Foale, Rodney ; Camici, Paolo G. ; Muntoni, Francesco</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c441t-84d6b25108b99f9a33bba25ea8118df508446e206515fbeb5449c379349d8ce83</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1998</creationdate><topic>Adolescent</topic><topic>Biological and medical sciences</topic><topic>Biopsy</topic><topic>Cardiomyopathy, Dilated - diagnostic imaging</topic><topic>Cardiomyopathy, Dilated - etiology</topic><topic>Cardiomyopathy, Dilated - metabolism</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Diseases of striated muscles. Neuromuscular diseases</topic><topic>Echocardiography</topic><topic>Female</topic><topic>Humans</topic><topic>Infant</topic><topic>Laminin - deficiency</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Muscles - metabolism</topic><topic>Muscular Dystrophies - complications</topic><topic>Muscular Dystrophies - diagnostic imaging</topic><topic>Muscular Dystrophies - metabolism</topic><topic>Neurology</topic><topic>Skin - metabolism</topic><topic>Ventricular Dysfunction, Left - diagnostic imaging</topic><topic>Ventricular Dysfunction, Left - etiology</topic><topic>Ventricular Dysfunction, Left - metabolism</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Spyrou, Nicos</creatorcontrib><creatorcontrib>Philpot, Jo</creatorcontrib><creatorcontrib>Foale, Rodney</creatorcontrib><creatorcontrib>Camici, Paolo G.</creatorcontrib><creatorcontrib>Muntoni, Francesco</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>The American heart journal</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Spyrou, Nicos</au><au>Philpot, Jo</au><au>Foale, Rodney</au><au>Camici, Paolo G.</au><au>Muntoni, Francesco</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Evidence of left ventricular dysfunction in children with merosin-deficient congenital muscular dystrophy</atitle><jtitle>The American heart journal</jtitle><addtitle>Am Heart J</addtitle><date>1998-09-01</date><risdate>1998</risdate><volume>136</volume><issue>3</issue><spage>474</spage><epage>476</epage><pages>474-476</pages><issn>0002-8703</issn><eissn>1097-6744</eissn><coden>AHJOA2</coden><abstract>Background Deficiency of the sarcolemmal protein dystrophin has been linked to dilated cardiomyopathy. Some children with congenital muscular dystrophy have a deficiency of the laminin α
2 chain of merosin, an extracellular matrix protein linked to dystrophin through a group of glycoproteins. It has been shown that deficiency in one of these glycoproteins is responsible for muscular dystrophy and dilated cardiomyopathy. Children with laminin α
2 deficiency may be at risk for development of cardiomyopathy.
Methods and Results We studied the cardiac function of a cohort of 16 children with congenital muscular dystrophy by using 2-dimensional echocardiography. The expression of the laminin α
2 of merosin in the patients was determined on a skin or muscle biopsy. Two of 6 merosin-deficient children had an ejection fraction <40%. The average ejection fraction of the merosin-deficient children was 43% ± 11%, which was significantly lower than the merosin-positive children (53% ± 5%,
P = .03).
Conclusions This study suggests that a deficiency of laminin α
2 can give rise to dilated cardiomyopathy, supporting the idea that defects of dystrophin, or of associated proteins, can cause dilated cardiomyopathy in addition to muscular dystrophy. (Am Heart J 1998;136:474-6.)</abstract><cop>New York, NY</cop><pub>Mosby, Inc</pub><pmid>9736139</pmid><doi>10.1016/S0002-8703(98)70222-4</doi><tpages>3</tpages></addata></record> |
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| subjects | Adolescent Biological and medical sciences Biopsy Cardiomyopathy, Dilated - diagnostic imaging Cardiomyopathy, Dilated - etiology Cardiomyopathy, Dilated - metabolism Child Child, Preschool Diseases of striated muscles. Neuromuscular diseases Echocardiography Female Humans Infant Laminin - deficiency Male Medical sciences Muscles - metabolism Muscular Dystrophies - complications Muscular Dystrophies - diagnostic imaging Muscular Dystrophies - metabolism Neurology Skin - metabolism Ventricular Dysfunction, Left - diagnostic imaging Ventricular Dysfunction, Left - etiology Ventricular Dysfunction, Left - metabolism |
| title | Evidence of left ventricular dysfunction in children with merosin-deficient congenital muscular dystrophy |
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