Hypertrophic Cardiomyopathy with Mitochondrial Myopathy: A New Phenotype of Complex II Defect
Two brothers, 25 and 19 years old, were affected by asymmetrical hypertrophic cardiomyopathy. The older brother had waddling gait and weakness of the proximal girdle muscles, while the younger had a broad-based gait and weakness of selected limb girdle muscles. EMG exam was myopathic. Serum enzyme,...
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| Veröffentlicht in: | Japanese Heart Journal 1993, Vol.34(1), pp.63-77 |
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| container_title | Japanese Heart Journal |
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| creator | ANGELINI, Corrado MELACINI, P. VALENTE, M.L. REICHMANN, H. CARROZZO, R. FANIN, M. VERGANI, L. BOFFA, G.M. MARTINUZZI, A. FASOLI, G. |
| description | Two brothers, 25 and 19 years old, were affected by asymmetrical hypertrophic cardiomyopathy. The older brother had waddling gait and weakness of the proximal girdle muscles, while the younger had a broad-based gait and weakness of selected limb girdle muscles. EMG exam was myopathic. Serum enzyme, CPK and aldolase were elevated. Histochemical reactions in muscle revealed "core-like" areas, subsarcolemmal rims of mitochondria and lipid accumulation. Succinatedehydrogenase stain showed a lack of activity in both biopsies, with the exception of intrafusal fibers. Microphotometric quantitative measurements confirmed the defect in both biopsies. Biochemical measurements of several mitochondrial enzymes in muscle showed a reduced activity of succinate-dehydrogenase (33%) and succinate-cytochrome C reductase (36-47%) which are both components of complex II. On myocardial biopsy lipid and mitochondrial abnormalities were found. This mitochondriopathy represents a new phenotype of partial complex II defect. |
| doi_str_mv | 10.1536/ihj.34.63 |
| format | Article |
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The older brother had waddling gait and weakness of the proximal girdle muscles, while the younger had a broad-based gait and weakness of selected limb girdle muscles. EMG exam was myopathic. Serum enzyme, CPK and aldolase were elevated. Histochemical reactions in muscle revealed "core-like" areas, subsarcolemmal rims of mitochondria and lipid accumulation. Succinatedehydrogenase stain showed a lack of activity in both biopsies, with the exception of intrafusal fibers. Microphotometric quantitative measurements confirmed the defect in both biopsies. Biochemical measurements of several mitochondrial enzymes in muscle showed a reduced activity of succinate-dehydrogenase (33%) and succinate-cytochrome C reductase (36-47%) which are both components of complex II. On myocardial biopsy lipid and mitochondrial abnormalities were found. This mitochondriopathy represents a new phenotype of partial complex II defect.</description><identifier>ISSN: 0021-4868</identifier><identifier>EISSN: 1348-673X</identifier><identifier>DOI: 10.1536/ihj.34.63</identifier><identifier>PMID: 8515573</identifier><identifier>CODEN: JHEJAR</identifier><language>eng</language><publisher>Tokyo: International Heart Journal Association</publisher><subject>Adult ; Biological and medical sciences ; Biopsy ; Cardiomyopathy, Hypertrophic - diagnosis ; Cardiomyopathy, Hypertrophic - genetics ; Cardiomyopathy, Hypertrophic - pathology ; Complex II ; Echocardiography ; Electrocardiography ; Electron Transport Complex II ; Errors of metabolism ; Humans ; Hypertrophic cardiomyopathy ; Male ; Medical sciences ; Metabolic diseases ; Microscopy, Electron ; Miscellaneous hereditary metabolic disorders ; Mitochondria ; Mitochondria, Heart - pathology ; Multienzyme Complexes - genetics ; Multienzyme Complexes - physiology ; Muscles - pathology ; Oxidoreductases - genetics ; Oxidoreductases - physiology ; Pedigree ; Phenotype ; Succinate Dehydrogenase - genetics ; Succinate Dehydrogenase - physiology</subject><ispartof>Japanese Heart Journal, 1993, Vol.34(1), pp.63-77</ispartof><rights>by International Heart Journal Association</rights><rights>1993 INIST-CNRS</rights><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c469t-377eba69224dd979b8d039232ac78384931a10da6b92910a85004b105b99b50d3</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,1877,4010,27900,27901,27902</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=4759128$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/8515573$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>ANGELINI, Corrado</creatorcontrib><creatorcontrib>MELACINI, P.</creatorcontrib><creatorcontrib>VALENTE, M.L.</creatorcontrib><creatorcontrib>REICHMANN, H.</creatorcontrib><creatorcontrib>CARROZZO, R.</creatorcontrib><creatorcontrib>FANIN, M.</creatorcontrib><creatorcontrib>VERGANI, L.</creatorcontrib><creatorcontrib>BOFFA, G.M.</creatorcontrib><creatorcontrib>MARTINUZZI, A.</creatorcontrib><creatorcontrib>FASOLI, G.</creatorcontrib><title>Hypertrophic Cardiomyopathy with Mitochondrial Myopathy: A New Phenotype of Complex II Defect</title><title>Japanese Heart Journal</title><addtitle>Jpn Heart J</addtitle><description>Two brothers, 25 and 19 years old, were affected by asymmetrical hypertrophic cardiomyopathy. The older brother had waddling gait and weakness of the proximal girdle muscles, while the younger had a broad-based gait and weakness of selected limb girdle muscles. EMG exam was myopathic. Serum enzyme, CPK and aldolase were elevated. Histochemical reactions in muscle revealed "core-like" areas, subsarcolemmal rims of mitochondria and lipid accumulation. Succinatedehydrogenase stain showed a lack of activity in both biopsies, with the exception of intrafusal fibers. Microphotometric quantitative measurements confirmed the defect in both biopsies. Biochemical measurements of several mitochondrial enzymes in muscle showed a reduced activity of succinate-dehydrogenase (33%) and succinate-cytochrome C reductase (36-47%) which are both components of complex II. On myocardial biopsy lipid and mitochondrial abnormalities were found. This mitochondriopathy represents a new phenotype of partial complex II defect.</description><subject>Adult</subject><subject>Biological and medical sciences</subject><subject>Biopsy</subject><subject>Cardiomyopathy, Hypertrophic - diagnosis</subject><subject>Cardiomyopathy, Hypertrophic - genetics</subject><subject>Cardiomyopathy, Hypertrophic - pathology</subject><subject>Complex II</subject><subject>Echocardiography</subject><subject>Electrocardiography</subject><subject>Electron Transport Complex II</subject><subject>Errors of metabolism</subject><subject>Humans</subject><subject>Hypertrophic cardiomyopathy</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Metabolic diseases</subject><subject>Microscopy, Electron</subject><subject>Miscellaneous hereditary metabolic disorders</subject><subject>Mitochondria</subject><subject>Mitochondria, Heart - pathology</subject><subject>Multienzyme Complexes - genetics</subject><subject>Multienzyme Complexes - physiology</subject><subject>Muscles - pathology</subject><subject>Oxidoreductases - genetics</subject><subject>Oxidoreductases - physiology</subject><subject>Pedigree</subject><subject>Phenotype</subject><subject>Succinate Dehydrogenase - genetics</subject><subject>Succinate Dehydrogenase - physiology</subject><issn>0021-4868</issn><issn>1348-673X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1993</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNo9kE1Lw0AURQdRtFYX_gChCxFcpM7kzedSi1pBcaPgbniZTM2UtIkzKdJ_b0pDN-8tzuFeuIRcMTplAuR9qJZT4FMJR2TEgOtMKvg-JiNKc5ZxLfUZOU9pSSmTuYZTcqoFE0LBiKj5tvWxi01bBTeZYSxDs9o2LXbVdvIXumryHrrGVc26jAHryfvALsjJAuvkL4c_Jl_PT5-zefb28fI6e3jLHJemy0ApX6A0ec7L0ihT6JKCySFHpzRoboAhoyXKwuSGUdSCUl4wKgpjCkFLGJPbfW4bm9-NT51dheR8XePaN5tklVCaa5H34t1edLFJKfqFbWNYYdxaRu1uJNuPZIFbCb17PYRuipUvD-awSs9vBo7JYb2IuHYhHTSuhGH9jmPyuNeWqcMff-AYu-BqvytkRtJdKdsfCQfoKozWr-EfCOGFmA</recordid><startdate>1993</startdate><enddate>1993</enddate><creator>ANGELINI, Corrado</creator><creator>MELACINI, P.</creator><creator>VALENTE, M.L.</creator><creator>REICHMANN, H.</creator><creator>CARROZZO, R.</creator><creator>FANIN, M.</creator><creator>VERGANI, L.</creator><creator>BOFFA, G.M.</creator><creator>MARTINUZZI, A.</creator><creator>FASOLI, G.</creator><general>International Heart Journal Association</general><general>Japanese Heart Journal Association</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>1993</creationdate><title>Hypertrophic Cardiomyopathy with Mitochondrial Myopathy</title><author>ANGELINI, Corrado ; MELACINI, P. ; VALENTE, M.L. ; REICHMANN, H. ; CARROZZO, R. ; FANIN, M. ; VERGANI, L. ; BOFFA, G.M. ; MARTINUZZI, A. ; FASOLI, G.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c469t-377eba69224dd979b8d039232ac78384931a10da6b92910a85004b105b99b50d3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1993</creationdate><topic>Adult</topic><topic>Biological and medical sciences</topic><topic>Biopsy</topic><topic>Cardiomyopathy, Hypertrophic - diagnosis</topic><topic>Cardiomyopathy, Hypertrophic - genetics</topic><topic>Cardiomyopathy, Hypertrophic - pathology</topic><topic>Complex II</topic><topic>Echocardiography</topic><topic>Electrocardiography</topic><topic>Electron Transport Complex II</topic><topic>Errors of metabolism</topic><topic>Humans</topic><topic>Hypertrophic cardiomyopathy</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Metabolic diseases</topic><topic>Microscopy, Electron</topic><topic>Miscellaneous hereditary metabolic disorders</topic><topic>Mitochondria</topic><topic>Mitochondria, Heart - pathology</topic><topic>Multienzyme Complexes - genetics</topic><topic>Multienzyme Complexes - physiology</topic><topic>Muscles - pathology</topic><topic>Oxidoreductases - genetics</topic><topic>Oxidoreductases - physiology</topic><topic>Pedigree</topic><topic>Phenotype</topic><topic>Succinate Dehydrogenase - genetics</topic><topic>Succinate Dehydrogenase - physiology</topic><toplevel>online_resources</toplevel><creatorcontrib>ANGELINI, Corrado</creatorcontrib><creatorcontrib>MELACINI, P.</creatorcontrib><creatorcontrib>VALENTE, M.L.</creatorcontrib><creatorcontrib>REICHMANN, H.</creatorcontrib><creatorcontrib>CARROZZO, R.</creatorcontrib><creatorcontrib>FANIN, M.</creatorcontrib><creatorcontrib>VERGANI, L.</creatorcontrib><creatorcontrib>BOFFA, G.M.</creatorcontrib><creatorcontrib>MARTINUZZI, A.</creatorcontrib><creatorcontrib>FASOLI, G.</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>Japanese Heart Journal</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>ANGELINI, Corrado</au><au>MELACINI, P.</au><au>VALENTE, M.L.</au><au>REICHMANN, H.</au><au>CARROZZO, R.</au><au>FANIN, M.</au><au>VERGANI, L.</au><au>BOFFA, G.M.</au><au>MARTINUZZI, A.</au><au>FASOLI, G.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Hypertrophic Cardiomyopathy with Mitochondrial Myopathy: A New Phenotype of Complex II Defect</atitle><jtitle>Japanese Heart Journal</jtitle><addtitle>Jpn Heart J</addtitle><date>1993</date><risdate>1993</risdate><volume>34</volume><issue>1</issue><spage>63</spage><epage>77</epage><pages>63-77</pages><issn>0021-4868</issn><eissn>1348-673X</eissn><coden>JHEJAR</coden><abstract>Two brothers, 25 and 19 years old, were affected by asymmetrical hypertrophic cardiomyopathy. The older brother had waddling gait and weakness of the proximal girdle muscles, while the younger had a broad-based gait and weakness of selected limb girdle muscles. EMG exam was myopathic. Serum enzyme, CPK and aldolase were elevated. Histochemical reactions in muscle revealed "core-like" areas, subsarcolemmal rims of mitochondria and lipid accumulation. Succinatedehydrogenase stain showed a lack of activity in both biopsies, with the exception of intrafusal fibers. Microphotometric quantitative measurements confirmed the defect in both biopsies. Biochemical measurements of several mitochondrial enzymes in muscle showed a reduced activity of succinate-dehydrogenase (33%) and succinate-cytochrome C reductase (36-47%) which are both components of complex II. On myocardial biopsy lipid and mitochondrial abnormalities were found. This mitochondriopathy represents a new phenotype of partial complex II defect.</abstract><cop>Tokyo</cop><pub>International Heart Journal Association</pub><pmid>8515573</pmid><doi>10.1536/ihj.34.63</doi><tpages>15</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Adult Biological and medical sciences Biopsy Cardiomyopathy, Hypertrophic - diagnosis Cardiomyopathy, Hypertrophic - genetics Cardiomyopathy, Hypertrophic - pathology Complex II Echocardiography Electrocardiography Electron Transport Complex II Errors of metabolism Humans Hypertrophic cardiomyopathy Male Medical sciences Metabolic diseases Microscopy, Electron Miscellaneous hereditary metabolic disorders Mitochondria Mitochondria, Heart - pathology Multienzyme Complexes - genetics Multienzyme Complexes - physiology Muscles - pathology Oxidoreductases - genetics Oxidoreductases - physiology Pedigree Phenotype Succinate Dehydrogenase - genetics Succinate Dehydrogenase - physiology |
| title | Hypertrophic Cardiomyopathy with Mitochondrial Myopathy: A New Phenotype of Complex II Defect |
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