A Female Carrier of Duchenne Muscular Dystrophy Complicated with Cardiomyopathy
A 45-year-old female carrier of Duchenne muscular dystrophy (DMD) complicated with cardiomyopathy is described. She had no symptoms of muscle weakness or heart failure. Her chest X-ray film revealed marked cardiomegaly. Echocardiogram showed marked enlargement and severe hypokinesis of the left vent...
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| Veröffentlicht in: | Internal Medicine 2000, Vol.39(1), pp.34-38 |
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| container_title | Internal Medicine |
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| creator | OGATA, Hitoko NAKAGAWA, Hidehisa ABE, Kou HAM HATTORI, Atsuo ISHIKAWA, Yuka ISHIKAWA, Yukitoshi SAITO, Masaki MINAMI, Ryoji |
| description | A 45-year-old female carrier of Duchenne muscular dystrophy (DMD) complicated with cardiomyopathy is described. She had no symptoms of muscle weakness or heart failure. Her chest X-ray film revealed marked cardiomegaly. Echocardiogram showed marked enlargement and severe hypokinesis of the left ventricle. In myocardial scintigraphic images, perfusion defects of the myocardium were revealed. Dystrophin immunostaining of myocardial biopsy specimens showed a mosaic pattern of dystrophin-negative and -positive fibers. Cardiomyopathy is sometimes the only clinical symptom in female carriers of DMD. They are thought to be in a high risk group for developing heart failure. (Internal Medicine 39: 34-38, 2000) |
| doi_str_mv | 10.2169/internalmedicine.39.34 |
| format | Article |
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She had no symptoms of muscle weakness or heart failure. Her chest X-ray film revealed marked cardiomegaly. Echocardiogram showed marked enlargement and severe hypokinesis of the left ventricle. In myocardial scintigraphic images, perfusion defects of the myocardium were revealed. Dystrophin immunostaining of myocardial biopsy specimens showed a mosaic pattern of dystrophin-negative and -positive fibers. Cardiomyopathy is sometimes the only clinical symptom in female carriers of DMD. They are thought to be in a high risk group for developing heart failure. (Internal Medicine 39: 34-38, 2000)</description><identifier>ISSN: 0918-2918</identifier><identifier>EISSN: 1349-7235</identifier><identifier>DOI: 10.2169/internalmedicine.39.34</identifier><identifier>PMID: 10674846</identifier><language>eng</language><publisher>Tokyo: The Japanese Society of Internal Medicine</publisher><subject>Biological and medical sciences ; brain natriuretic peptide ; Cardiomyopathy, Dilated - diagnosis ; Cardiomyopathy, Dilated - etiology ; dystrophin ; Electrocardiography. Vectocardiography ; Electrodiagnosis. Electric activity recording ; Female ; heart failure ; Heterozygote ; Humans ; Investigative techniques, diagnostic techniques (general aspects) ; Medical sciences ; Middle Aged ; Muscular Dystrophy, Duchenne - complications ; Muscular Dystrophy, Duchenne - genetics ; myocardial scintigraphy ; X-linked recessive disease</subject><ispartof>Internal Medicine, 2000, Vol.39(1), pp.34-38</ispartof><rights>The Japanese Society of Internal Medicine</rights><rights>2000 INIST-CNRS</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c522t-23271337c329dee86e8e19f0d48720fd7877d96c195ebb12e5255c09fdc9886e3</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,1882,4023,27922,27923,27924</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=1323776$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/10674846$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>OGATA, Hitoko</creatorcontrib><creatorcontrib>NAKAGAWA, Hidehisa</creatorcontrib><creatorcontrib>ABE, Kou HAM</creatorcontrib><creatorcontrib>HATTORI, Atsuo</creatorcontrib><creatorcontrib>ISHIKAWA, Yuka</creatorcontrib><creatorcontrib>ISHIKAWA, Yukitoshi</creatorcontrib><creatorcontrib>SAITO, Masaki</creatorcontrib><creatorcontrib>MINAMI, Ryoji</creatorcontrib><title>A Female Carrier of Duchenne Muscular Dystrophy Complicated with Cardiomyopathy</title><title>Internal Medicine</title><addtitle>Intern. Med.</addtitle><description>A 45-year-old female carrier of Duchenne muscular dystrophy (DMD) complicated with cardiomyopathy is described. She had no symptoms of muscle weakness or heart failure. Her chest X-ray film revealed marked cardiomegaly. Echocardiogram showed marked enlargement and severe hypokinesis of the left ventricle. In myocardial scintigraphic images, perfusion defects of the myocardium were revealed. Dystrophin immunostaining of myocardial biopsy specimens showed a mosaic pattern of dystrophin-negative and -positive fibers. Cardiomyopathy is sometimes the only clinical symptom in female carriers of DMD. They are thought to be in a high risk group for developing heart failure. (Internal Medicine 39: 34-38, 2000)</description><subject>Biological and medical sciences</subject><subject>brain natriuretic peptide</subject><subject>Cardiomyopathy, Dilated - diagnosis</subject><subject>Cardiomyopathy, Dilated - etiology</subject><subject>dystrophin</subject><subject>Electrocardiography. Vectocardiography</subject><subject>Electrodiagnosis. Electric activity recording</subject><subject>Female</subject><subject>heart failure</subject><subject>Heterozygote</subject><subject>Humans</subject><subject>Investigative techniques, diagnostic techniques (general aspects)</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>Muscular Dystrophy, Duchenne - complications</subject><subject>Muscular Dystrophy, Duchenne - genetics</subject><subject>myocardial scintigraphy</subject><subject>X-linked recessive disease</subject><issn>0918-2918</issn><issn>1349-7235</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2000</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNplkElPwzAQhS0EomX5C1UOiFuKlySOj1VZpaJe4Gy5zoS4chZsRyj_nlStCoLLzOF9b97oITQjeE5JJu5ME8A1ytZQGG0amDMxZ8kJmhKWiJhTlp6iKRYkj-k4JujC-y3GLOeCnqMJwRlP8iSbovUieoRaWYiWyjkDLmrL6L7XFTQNRK-9171VLroffHBtVw3Rsq07a7QKUERfJlQ7X2Haemg7FarhCp2Vynq4PuxL9P748LZ8jlfrp5flYhXrlNIQU0Y5YYxrRkUBkGeQAxElLpKcU1wWPOe8EJkmIoXNhlBIaZpqLMpCi3yk2SW63d_tXPvZgw-yNl6DtaqBtveSY4FTkvERzPagdq33DkrZOVMrN0iC5a5K-bdKyYRkyWicHRL6zSj9su27G4GbA6C8VrZ0qtHG_3CMMs532HqPbX1QH3DUlQtGW_gXT4SguxfIYSRHUlfKSWjYN4cFntc</recordid><startdate>2000</startdate><enddate>2000</enddate><creator>OGATA, Hitoko</creator><creator>NAKAGAWA, Hidehisa</creator><creator>ABE, Kou HAM</creator><creator>HATTORI, Atsuo</creator><creator>ISHIKAWA, Yuka</creator><creator>ISHIKAWA, Yukitoshi</creator><creator>SAITO, Masaki</creator><creator>MINAMI, Ryoji</creator><general>The Japanese Society of Internal Medicine</general><general>Japanese Society of Internal Medicine</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>2000</creationdate><title>A Female Carrier of Duchenne Muscular Dystrophy Complicated with Cardiomyopathy</title><author>OGATA, Hitoko ; NAKAGAWA, Hidehisa ; ABE, Kou HAM ; HATTORI, Atsuo ; ISHIKAWA, Yuka ; ISHIKAWA, Yukitoshi ; SAITO, Masaki ; MINAMI, Ryoji</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c522t-23271337c329dee86e8e19f0d48720fd7877d96c195ebb12e5255c09fdc9886e3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2000</creationdate><topic>Biological and medical sciences</topic><topic>brain natriuretic peptide</topic><topic>Cardiomyopathy, Dilated - diagnosis</topic><topic>Cardiomyopathy, Dilated - etiology</topic><topic>dystrophin</topic><topic>Electrocardiography. Vectocardiography</topic><topic>Electrodiagnosis. Electric activity recording</topic><topic>Female</topic><topic>heart failure</topic><topic>Heterozygote</topic><topic>Humans</topic><topic>Investigative techniques, diagnostic techniques (general aspects)</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>Muscular Dystrophy, Duchenne - complications</topic><topic>Muscular Dystrophy, Duchenne - genetics</topic><topic>myocardial scintigraphy</topic><topic>X-linked recessive disease</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>OGATA, Hitoko</creatorcontrib><creatorcontrib>NAKAGAWA, Hidehisa</creatorcontrib><creatorcontrib>ABE, Kou HAM</creatorcontrib><creatorcontrib>HATTORI, Atsuo</creatorcontrib><creatorcontrib>ISHIKAWA, Yuka</creatorcontrib><creatorcontrib>ISHIKAWA, Yukitoshi</creatorcontrib><creatorcontrib>SAITO, Masaki</creatorcontrib><creatorcontrib>MINAMI, Ryoji</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>Internal Medicine</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>OGATA, Hitoko</au><au>NAKAGAWA, Hidehisa</au><au>ABE, Kou HAM</au><au>HATTORI, Atsuo</au><au>ISHIKAWA, Yuka</au><au>ISHIKAWA, Yukitoshi</au><au>SAITO, Masaki</au><au>MINAMI, Ryoji</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A Female Carrier of Duchenne Muscular Dystrophy Complicated with Cardiomyopathy</atitle><jtitle>Internal Medicine</jtitle><addtitle>Intern. Med.</addtitle><date>2000</date><risdate>2000</risdate><volume>39</volume><issue>1</issue><spage>34</spage><epage>38</epage><pages>34-38</pages><issn>0918-2918</issn><eissn>1349-7235</eissn><abstract>A 45-year-old female carrier of Duchenne muscular dystrophy (DMD) complicated with cardiomyopathy is described. She had no symptoms of muscle weakness or heart failure. Her chest X-ray film revealed marked cardiomegaly. Echocardiogram showed marked enlargement and severe hypokinesis of the left ventricle. In myocardial scintigraphic images, perfusion defects of the myocardium were revealed. Dystrophin immunostaining of myocardial biopsy specimens showed a mosaic pattern of dystrophin-negative and -positive fibers. Cardiomyopathy is sometimes the only clinical symptom in female carriers of DMD. They are thought to be in a high risk group for developing heart failure. (Internal Medicine 39: 34-38, 2000)</abstract><cop>Tokyo</cop><pub>The Japanese Society of Internal Medicine</pub><pmid>10674846</pmid><doi>10.2169/internalmedicine.39.34</doi><tpages>5</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Biological and medical sciences brain natriuretic peptide Cardiomyopathy, Dilated - diagnosis Cardiomyopathy, Dilated - etiology dystrophin Electrocardiography. Vectocardiography Electrodiagnosis. Electric activity recording Female heart failure Heterozygote Humans Investigative techniques, diagnostic techniques (general aspects) Medical sciences Middle Aged Muscular Dystrophy, Duchenne - complications Muscular Dystrophy, Duchenne - genetics myocardial scintigraphy X-linked recessive disease |
| title | A Female Carrier of Duchenne Muscular Dystrophy Complicated with Cardiomyopathy |
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