The perfect storm? Histiocytoid cardiomyopathy and compound CACNA2D1 and RANGRF mutation in a baby
A female baby suffered from a rare association between histiocytoid cardiomyopathy, left ventricular non-compaction, and Wolff–Parkinson–White syndrome causing severe and recurrent arrhythmic storms. Antiarrhythmic drugs, radiofrequency ablation of Purkinje tissue, and sympathetic denervation were i...
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| Veröffentlicht in: | Cardiology in the young 2015-01, Vol.25 (1), p.174-176 |
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| creator | Cataldo, Stefania Annoni, Giuseppe A. Marziliano, Nicola |
| description | A female baby suffered from a rare association between histiocytoid cardiomyopathy, left ventricular non-compaction, and Wolff–Parkinson–White syndrome causing severe and recurrent arrhythmic storms. Antiarrhythmic drugs, radiofrequency ablation of Purkinje tissue, and sympathetic denervation were ineffective. The implant of a cardiac defibrillator allowed her to survive till heart transplant. Compound mutation of CACNA2D1 and RANGRF genes were found. To the best of our knowledge, this is the first comprehensive description of the concurrence of these two mutations and histiocytoid cardiomyopathy. |
| doi_str_mv | 10.1017/S1047951113002382 |
| format | Article |
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Histiocytoid cardiomyopathy and compound CACNA2D1 and RANGRF mutation in a baby</title><title>Cardiology in the young</title><addtitle>Cardiol Young</addtitle><description>A female baby suffered from a rare association between histiocytoid cardiomyopathy, left ventricular non-compaction, and Wolff–Parkinson–White syndrome causing severe and recurrent arrhythmic storms. Antiarrhythmic drugs, radiofrequency ablation of Purkinje tissue, and sympathetic denervation were ineffective. The implant of a cardiac defibrillator allowed her to survive till heart transplant. Compound mutation of CACNA2D1 and RANGRF genes were found. To the best of our knowledge, this is the first comprehensive description of the concurrence of these two mutations and histiocytoid cardiomyopathy.</description><subject>Alleles</subject><subject>Brief Reports</subject><subject>Calcium Channels - genetics</subject><subject>Calcium Channels - metabolism</subject><subject>Cardiac arrhythmia</subject><subject>Cardiomyopathies - congenital</subject><subject>Cardiomyopathies - diagnosis</subject><subject>Cardiomyopathies - genetics</subject><subject>Cardiomyopathies - metabolism</subject><subject>DNA - genetics</subject><subject>DNA Mutational Analysis</subject><subject>Electron Transport Complex III - deficiency</subject><subject>Electron Transport Complex III - genetics</subject><subject>Electron Transport Complex III - metabolism</subject><subject>Electrophysiologic Techniques, Cardiac</subject><subject>Female</subject><subject>Heart attacks</subject><subject>Humans</subject><subject>Infant, Newborn</subject><subject>Medical research</subject><subject>Mutation</subject><subject>ran GTP-Binding Protein - genetics</subject><subject>ran GTP-Binding Protein - metabolism</subject><issn>1047-9511</issn><issn>1467-1107</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2015</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><recordid>eNp1kU1LxDAQhoMorl8_wIsEvHipziRN2z3JsrqrICv4cS5pkrqVbVOT9tB_b1ZXEcVThpnnfRImhBwjnCNgevGIEKdjgYgcgPGMbZE9jJM0QoR0O9RhHK3nI7Lv_SsAco6wS0YsjnnGRbJHiqeloa1xpVEd9Z119SW9qXxXWTV0ttJUSacrWw-2ld1yoLIJLVu3tg_FdDJdTNgVfnQfJov5w4zWfSdDuqFVQyUtZDEckp1Srrw52pwH5Hl2_TS9ie7u57fTyV2keMq7KEszobQZF5onyESRMMhKLDWm3EAZc50xlEIVgiFwzQUDLmIhUAihzFjG_ICcfXpbZ99647u8rrwyq5VsjO19jkm83hpgFtDTX-ir7V0TXremIBWALAkUflLKWe-dKfPWVbV0Q46Qr1X5nw8ImZONuS9qo78TXxsPAN9IZV24Sr-YH3f_q30HCReMLA</recordid><startdate>20150101</startdate><enddate>20150101</enddate><creator>Cataldo, Stefania</creator><creator>Annoni, Giuseppe A.</creator><creator>Marziliano, Nicola</creator><general>Cambridge University Press</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>7TS</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8FD</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>K9.</scope><scope>M0S</scope><scope>M1P</scope><scope>M7Z</scope><scope>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>7X8</scope></search><sort><creationdate>20150101</creationdate><title>The perfect storm? Histiocytoid cardiomyopathy and compound CACNA2D1 and RANGRF mutation in a baby</title><author>Cataldo, Stefania ; Annoni, Giuseppe A. ; Marziliano, Nicola</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c373t-8785cde9bd36125b6208f1fd173e0f43d821a5cb52103d3520354551555ce9a43</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2015</creationdate><topic>Alleles</topic><topic>Brief Reports</topic><topic>Calcium Channels - genetics</topic><topic>Calcium Channels - metabolism</topic><topic>Cardiac arrhythmia</topic><topic>Cardiomyopathies - congenital</topic><topic>Cardiomyopathies - diagnosis</topic><topic>Cardiomyopathies - genetics</topic><topic>Cardiomyopathies - metabolism</topic><topic>DNA - genetics</topic><topic>DNA Mutational Analysis</topic><topic>Electron Transport Complex III - deficiency</topic><topic>Electron Transport Complex III - genetics</topic><topic>Electron Transport Complex III - metabolism</topic><topic>Electrophysiologic Techniques, Cardiac</topic><topic>Female</topic><topic>Heart attacks</topic><topic>Humans</topic><topic>Infant, Newborn</topic><topic>Medical research</topic><topic>Mutation</topic><topic>ran GTP-Binding Protein - genetics</topic><topic>ran GTP-Binding Protein - metabolism</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Cataldo, Stefania</creatorcontrib><creatorcontrib>Annoni, Giuseppe A.</creatorcontrib><creatorcontrib>Marziliano, Nicola</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>Physical Education Index</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</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>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central</collection><collection>ProQuest One Community College</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Biochemistry Abstracts 1</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>MEDLINE - Academic</collection><jtitle>Cardiology in the young</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Cataldo, Stefania</au><au>Annoni, Giuseppe A.</au><au>Marziliano, Nicola</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>The perfect storm? Histiocytoid cardiomyopathy and compound CACNA2D1 and RANGRF mutation in a baby</atitle><jtitle>Cardiology in the young</jtitle><addtitle>Cardiol Young</addtitle><date>2015-01-01</date><risdate>2015</risdate><volume>25</volume><issue>1</issue><spage>174</spage><epage>176</epage><pages>174-176</pages><issn>1047-9511</issn><eissn>1467-1107</eissn><abstract>A female baby suffered from a rare association between histiocytoid cardiomyopathy, left ventricular non-compaction, and Wolff–Parkinson–White syndrome causing severe and recurrent arrhythmic storms. Antiarrhythmic drugs, radiofrequency ablation of Purkinje tissue, and sympathetic denervation were ineffective. The implant of a cardiac defibrillator allowed her to survive till heart transplant. Compound mutation of CACNA2D1 and RANGRF genes were found. To the best of our knowledge, this is the first comprehensive description of the concurrence of these two mutations and histiocytoid cardiomyopathy.</abstract><cop>Cambridge, UK</cop><pub>Cambridge University Press</pub><pmid>24438356</pmid><doi>10.1017/S1047951113002382</doi><tpages>3</tpages></addata></record> |
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| subjects | Alleles Brief Reports Calcium Channels - genetics Calcium Channels - metabolism Cardiac arrhythmia Cardiomyopathies - congenital Cardiomyopathies - diagnosis Cardiomyopathies - genetics Cardiomyopathies - metabolism DNA - genetics DNA Mutational Analysis Electron Transport Complex III - deficiency Electron Transport Complex III - genetics Electron Transport Complex III - metabolism Electrophysiologic Techniques, Cardiac Female Heart attacks Humans Infant, Newborn Medical research Mutation ran GTP-Binding Protein - genetics ran GTP-Binding Protein - metabolism |
| title | The perfect storm? Histiocytoid cardiomyopathy and compound CACNA2D1 and RANGRF mutation in a baby |
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