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type=\u0022text\/css\u0022 rel=\u0022stylesheet\u0022 href=\u0022\/\/d282kpwvnogo5m.cloudfront.net\/sites\/default\/files\/cdn\/css\/http\/css_Xg7z6oCTVgud_Q0huYz9x9iiD5H_2YPSJ5z2ZViSWdY.css\u0022 media=\u0022all\u0022 \/\u003E\n\u003Clink rel=\u0027stylesheet\u0027 type=\u0027text\/css\u0027 href=\u0027\/sites\/all\/modules\/contrib\/panels\/plugins\/layouts\/onecol\/onecol.css\u0027 \/\u003E\u003C\/head\u003E\u003Cbody\u003E\u003Cdiv class=\u0022panels-ajax-tab-panel panels-ajax-tab-panel-sageoa-tab-art\u0022\u003E\u003Cdiv class=\u0022panel-display panel-1col clearfix\u0022 \u003E\n  \u003Cdiv class=\u0022panel-panel panel-col\u0022\u003E\n    \u003Cdiv\u003E\u003Cdiv class=\u0022panel-pane pane-highwire-markup\u0022 \u003E\n  \n      \n  \n  \u003Cdiv class=\u0022pane-content\u0022\u003E\n    \u003Cdiv class=\u0022highwire-markup\u0022\u003E\u003Cdiv xmlns=\u0022http:\/\/www.w3.org\/1999\/xhtml\u0022 id=\u0022content-block-markup\u0022 xmlns:xhtml=\u0022http:\/\/www.w3.org\/1999\/xhtml\u0022\u003E\u003Cdiv class=\u0022article fulltext-view \u0022\u003E\u003Cspan class=\u0022highwire-journal-article-marker-start\u0022\u003E\u003C\/span\u003E\u003Cdiv class=\u0022section abstract\u0022 id=\u0022abstract-1\u0022\u003E\u003Ch2\u003ESummary\u003C\/h2\u003E\n            \u003Cp id=\u0022p-1\u0022\u003EArrhythmogenic right ventricular cardiomyopathy (ARVC), an inherited myocardial disorder, is associated with arrhythmias, heart failure, and sudden death [Syrris P et al. \u003Cem\u003EAm J Hum Genet\u003C\/em\u003E 2006; Yang Z et al. \u003Cem\u003ECirculation Res\u003C\/em\u003E 2006]. Clinical diagnosis of ARVC can be complicated, because multiple diagnostic tests are required and clinical presentation varies. This article discussed the etiology of ARVC and recent breakthroughs concerning detection, as well as the issue of hypertrophic cardiomyopathy.\u003C\/p\u003E\n         \u003C\/div\u003E\u003Cul class=\u0022kwd-group\u0022\u003E\u003Cli class=\u0022kwd\u0022\u003Ecardiology genomics\u003C\/li\u003E\u003Cli class=\u0022kwd\u0022\u003Einflammatory disease\u003C\/li\u003E\u003C\/ul\u003E\u003Cdiv class=\u0022section\u0022 id=\u0022sec-1\u0022\u003E\n         \n         \u003Cp id=\u0022p-2\u0022\u003EArrhythmogenic right ventricular cardiomyopathy (ARVC), an inherited myocardial disorder, is associated with arrhythmias, heart failure, and sudden death [Syrris P et al. \u003Cem\u003EAm J Hum Genet\u003C\/em\u003E 2006; Yang Z et al. \u003Cem\u003ECirculation Res\u003C\/em\u003E 2006]. Clinical diagnosis of ARVC can be complicated, because multiple diagnostic tests are required and clinical presentation varies. William McKenna, MD, University College London, London, UK, discussed the etiology of ARVC and recent breakthroughs concerning detection.\u003C\/p\u003E\n         \u003Cp id=\u0022p-3\u0022\u003EDesmosomes consist of several proteins that serve as specialized intercellular junctions of the cardiac and endothelial tissue that are involved in cell-to-cell adhesion and intracellular signaling. ARVC is a genetic disorder that involves desmosomal mutations, particularly in the desmoplakin, N-cadherin, and plakoglobin pathways. Within single families that carry these mutations, there are variations in ARVC presentation, such as age at onset, clinical features, and outcomes [Bauce B et al. \u003Cem\u003EEur Heart J\u003C\/em\u003E 2005; Norman M et al. \u003Cem\u003ECirculation\u003C\/em\u003E 2005; Kannankeril PJ et al. \u003Cem\u003EHeart Rhythm\u003C\/em\u003E 2006; Syrris P et al. \u003Cem\u003EEur Heart J\u003C\/em\u003E 2007].\u003C\/p\u003E\n         \u003Cp id=\u0022p-4\u0022\u003EIn a recent study by Asimaki and colleagues, routine immunohistochemical analysis of endomyocardial biopsy samples revealed high sensitivity (91%) and specificity (82%) for ARVC diagnostic testing (\u003Ca id=\u0022xref-table-wrap-1-1\u0022 class=\u0022xref-table\u0022 href=\u0022#T1\u0022\u003ETable 1\u003C\/a\u003E). Ten of 11 subjects were correctly diagnosed with ARVC based on clinical criteria, and AVRC was accurately ruled out in 10 of 11 subjects without ARVC (positive predictive value 83% and negative predictive value 90%; \u003Ca id=\u0022xref-fig-1-1\u0022 class=\u0022xref-fig\u0022 href=\u0022#F1\u0022\u003EFigure 1\u003C\/a\u003E) [Asimaki A et al. \u003Cem\u003EN Engl J Med\u003C\/em\u003E 2009]. Prof. McKenna concluded that these recent findings and ongoing genetic studies may have practical implications for ARVC detection in the clinical setting.\u003C\/p\u003E\n         \u003Cdiv id=\u0022T1\u0022 class=\u0022table pos-float\u0022\u003E\u003Cdiv class=\u0022table-inline\u0022\u003E\u003Cdiv class=\u0022callout\u0022\u003E\u003Cspan\u003EView this table:\u003C\/span\u003E\u003Cul class=\u0022callout-links\u0022\u003E\u003Cli class=\u00220 first\u0022\u003E\u003Ca href=\u0022\/\u0022 class=\u0022table-expand-inline\u0022 data-table-url=\u0022\/highwire\/markup\/11533\/expansion?postprocessors=highwire_figures%2Chighwire_math%2Chighwire_inline_linked_media%2Chighwire_embed\u0026amp;table-expand-inline=1\u0022 html=\u00221\u0022 fragment=\u0022#\u0022 external=\u00221\u0022 data-icon-position=\u0022\u0022 data-hide-link-title=\u00220\u0022\u003EView inline\u003C\/a\u003E\u003C\/li\u003E\u003Cli class=\u00221\u0022\u003E\u003Ca href=\u0022\/highwire\/markup\/11533\/expansion?width=1000\u0026amp;height=500\u0026amp;iframe=true\u0026amp;postprocessors=highwire_figures%2Chighwire_math%2Chighwire_inline_linked_media\u0022 class=\u0022colorbox colorbox-load table-expand-popup\u0022 rel=\u0022gallery-fragment-tables\u0022 data-icon-position=\u0022\u0022 data-hide-link-title=\u00220\u0022\u003EView popup\u003C\/a\u003E\u003C\/li\u003E\u003Cli class=\u00222 last\u0022\u003E\u003Ca href=\u0022\/highwire\/powerpoint\/11533\u0022 class=\u0022highwire-figure-link highwire-figure-link-ppt\u0022 data-icon-position=\u0022\u0022 data-hide-link-title=\u00220\u0022\u003EDownload powerpoint\u003C\/a\u003E\u003C\/li\u003E\u003C\/ul\u003E\u003C\/div\u003E\u003C\/div\u003E\u003Cdiv class=\u0022table-caption\u0022\u003E\u003Cspan class=\u0022table-label\u0022\u003ETable 1.\u003C\/span\u003E \n               \u003Cp id=\u0022p-5\u0022 class=\u0022first-child\u0022\u003EClinical and Immunohistological Diagnoses in Blinded Analysis of Cardiac Biopsy Specimens.\u003C\/p\u003E\n            \u003Cdiv class=\u0022sb-div caption-clear\u0022\u003E\u003C\/div\u003E\u003C\/div\u003E\u003C\/div\u003E\n         \u003Cdiv id=\u0022F1\u0022 class=\u0022fig pos-float  odd\u0022\u003E\u003Cdiv class=\u0022highwire-figure\u0022\u003E\u003Cdiv class=\u0022fig-inline-img-wrapper\u0022\u003E\u003Cdiv class=\u0022fig-inline-img\u0022\u003E\u003Ca href=\u0022http:\/\/d282kpwvnogo5m.cloudfront.net\/content\/spmdc\/9\/6\/17\/F1.large.jpg?width=800\u0026amp;height=600\u0026amp;carousel=1\u0022 title=\u0022Immunofluorescence Images of Endomyocardial Biopsy Samples from Two Subjects with ARVC and Two Subjects without ARVC.\u0022 class=\u0022fragment-images colorbox-load\u0022 rel=\u0022gallery-fragment-images-238061728\u0022 data-figure-caption=\u0022Immunofluorescence Images of Endomyocardial Biopsy Samples from Two Subjects with ARVC and Two Subjects without ARVC.\u0022 data-icon-position=\u0022\u0022 data-hide-link-title=\u00220\u0022\u003E\u003Cimg class=\u0022fragment-image\u0022 alt=\u0022Figure 1.\u0022 src=\u0022http:\/\/d282kpwvnogo5m.cloudfront.net\/content\/spmdc\/9\/6\/17\/F1.medium.gif\u0022\/\u003E\u003C\/a\u003E\u003C\/div\u003E\u003C\/div\u003E\u003Cul class=\u0022highwire-figure-links inline\u0022\u003E\u003Cli class=\u00220 first\u0022\u003E\u003Ca href=\u0022http:\/\/d282kpwvnogo5m.cloudfront.net\/content\/spmdc\/9\/6\/17\/F1.large.jpg?download=true\u0022 class=\u0022highwire-figure-link highwire-figure-link-download\u0022 title=\u0022Download Figure 1.\u0022 data-icon-position=\u0022\u0022 data-hide-link-title=\u00220\u0022\u003EDownload figure\u003C\/a\u003E\u003C\/li\u003E\u003Cli class=\u00221\u0022\u003E\u003Ca href=\u0022http:\/\/d282kpwvnogo5m.cloudfront.net\/content\/spmdc\/9\/6\/17\/F1.large.jpg\u0022 class=\u0022highwire-figure-link highwire-figure-link-newtab\u0022 target=\u0022_blank\u0022 data-icon-position=\u0022\u0022 data-hide-link-title=\u00220\u0022\u003EOpen in new tab\u003C\/a\u003E\u003C\/li\u003E\u003Cli class=\u00222 last\u0022\u003E\u003Ca href=\u0022\/highwire\/powerpoint\/11529\u0022 class=\u0022highwire-figure-link highwire-figure-link-ppt\u0022 data-icon-position=\u0022\u0022 data-hide-link-title=\u00220\u0022\u003EDownload powerpoint\u003C\/a\u003E\u003C\/li\u003E\u003C\/ul\u003E\u003C\/div\u003E\u003Cdiv class=\u0022fig-caption attrib\u0022\u003E\u003Cspan class=\u0022fig-label\u0022\u003EFigure 1.\u003C\/span\u003E \n               \u003Cp id=\u0022p-7\u0022 class=\u0022first-child\u0022\u003EImmunofluorescence Images of Endomyocardial Biopsy Samples from Two Subjects with ARVC and Two Subjects without ARVC.\u003C\/p\u003E\n            \u003Cq class=\u0022attrib\u0022 id=\u0022attrib-2\u0022\u003ECopyright \u00a9 2009 Massachusetts Medical Society. All rights reserved.\u003C\/q\u003E\u003Cdiv class=\u0022sb-div caption-clear\u0022\u003E\u003C\/div\u003E\u003C\/div\u003E\u003C\/div\u003E\n         \u003Cp id=\u0022p-8\u0022\u003ERepresentative images from a blinded analysis of endomyocardial biopsy samples show that immunoreactive signal levels for n-cadherin and plakoglobin in two subjects with AVRC differ from the signal levels in two subjects without ARVC. Numbers in parentheses correspond to the subject numbers in \u003Ca id=\u0022xref-table-wrap-1-2\u0022 class=\u0022xref-table\u0022 href=\u0022#T1\u0022\u003ETable 1.\u003C\/a\u003E\n         \u003C\/p\u003E\n         \u003Cp id=\u0022p-9\u0022\u003EPatrick O\u0027Gara, MD, Brigham \u0026amp; Women\u0027s Hospital, Boston, MA, discussed the issue of hypertrophic cardiomyopathy (HCM), which also involves genetic mutations that lead to myocyte disarray and increased collagen production (sarcomere mutations, including \u03b2-MHC, MBP-C, and Tn; nonsarcomere mutations, including PRKAG2, LAMP-2, and glycogen storage disease). \u201cThere is extraordinary phenotypic variability associated with hypertrophic cardiomyopathy, making it more difficult to identify and treat,\u201d said Dr. O\u0027Gara.\u003C\/p\u003E\n         \u003Cp id=\u0022p-10\u0022\u003EIdentification of HCM and potential obstruction consists of noninvasive imaging of myocardial structure as well as left ventricular outflow gradient assessment by either provoking a response by positioning (valsalva versus rest) in the clinical setting or performing exercise and imaging in the echocardiography lab. Outflow tract obstruction is present in 70% of patients with HCM, of which only 33% is revealed following exercise-related provocation. Identifying obstruction is clinically important, because its presence is associated with increased mortality, and such patients deserve closer clinical follow-up and consideration for more aggressive therapy [Maron M et al. \u003Cem\u003EN Engl J Med\u003C\/em\u003E 2003]. Currently, there are no data available regarding pharmaceutical therapy and its impact on sudden cardiac death rates in these patients, Dr. O\u0027Gara noted.\u003C\/p\u003E\n         \u003Cp id=\u0022p-11\u0022\u003EPossible \u003Cem\u003Einterventional\u003C\/em\u003E options for HCM patients include septal myectomy and alcohol septal ablation. Alcohol septal ablation involves creating an ethanol-induced myocardial infarction, while septal myectomy entails surgical removal of the hypertrophied basal septum. Myectomy has a 90% rate of success, while alcohol septal ablation has a slightly lower chance of successful outcome (70% to 80%). However, the safety of both of these interventions has been established (\u0026lt;2% to 3% mortality) [Nishimura R \u0026amp; Holmes D. \u003Cem\u003EN Engl J Med\u003C\/em\u003E 2004; Maron BJ et al. \u003Cem\u003ECirculation\u003C\/em\u003E 2007]. Septal myectomy is the preferred surgical intervention for HCM in the presence of concomitant problems, such as multivessel coronary disease, intrinsic mitral valve disease, midventricular obstruction, and fixed subaortic obstruction [Nishimura R \u0026amp; Holmes D. \u003Cem\u003EN Engl J Med\u003C\/em\u003E 2004].\u003C\/p\u003E\n         \u003Cp id=\u0022p-12\u0022\u003EDr. O\u0027Gara concluded that HCM screening is important, especially for first-degree relatives. Screening should include examination, ECG, and echocardiography annually during adolescence (age 12 to 18 years) and every 3 to 5 years after age 18 years if echocardiograms are normal. When more than one family member is affected, further genetic testing may be indicated.\u003C\/p\u003E\n      \u003C\/div\u003E\u003Cul class=\u0022copyright-statement\u0022\u003E\u003Cli class=\u0022fn\u0022 id=\u0022copyright-statement-1\u0022\u003E\u00a9 2010 MD Conference Express\u003C\/li\u003E\u003C\/ul\u003E\u003Cspan class=\u0022highwire-journal-article-marker-end\u0022\u003E\u003C\/span\u003E\u003C\/div\u003E\u003Cspan id=\u0022related-urls\u0022\u003E\u003C\/span\u003E\u003C\/div\u003E\u003Ca href=\u0022http:\/\/mdc.sagepub.com\/content\/9\/6\/17.abstract\u0022 class=\u0022hw-link hw-link-article-abstract\u0022 data-icon-position=\u0022\u0022 data-hide-link-title=\u00220\u0022\u003EView Summary\u003C\/a\u003E\u003C\/div\u003E  \u003C\/div\u003E\n\n  \n  \u003C\/div\u003E\n\u003C\/div\u003E\n  \u003C\/div\u003E\n\u003C\/div\u003E\n\u003C\/div\u003E\u003Cscript type=\u0022text\/javascript\u0022 src=\u0022http:\/\/mdc.sagepub.com\/sites\/all\/modules\/highwire\/highwire\/plugins\/highwire_markup_process\/js\/highwire_figures.js?nzmuu2\u0022\u003E\u003C\/script\u003E\n\u003Cscript type=\u0022text\/javascript\u0022 src=\u0022http:\/\/mdc.sagepub.com\/sites\/all\/modules\/highwire\/highwire\/plugins\/highwire_markup_process\/js\/highwire_openurl.js?nzmuu2\u0022\u003E\u003C\/script\u003E\n\u003Cscript type=\u0022text\/javascript\u0022 src=\u0022http:\/\/mdc.sagepub.com\/sites\/all\/modules\/highwire\/highwire\/plugins\/highwire_markup_process\/js\/highwire_tables.js?nzmuu2\u0022\u003E\u003C\/script\u003E\n\u003C\/body\u003E\u003C\/html\u003E"}