{"id":1400,"date":"2020-01-11T16:00:00","date_gmt":"2020-01-11T16:00:00","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1400"},"modified":"2026-02-24T00:19:58","modified_gmt":"2026-02-24T00:19:58","slug":"flnc-truncations-cause-arrhythmogenic-right-ventricular-cardiomyopathy","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2020\/01\/11\/flnc-truncations-cause-arrhythmogenic-right-ventricular-cardiomyopathy\/","title":{"rendered":"FLNC truncations cause arrhythmogenic right ventricular cardiomyopathy (Contributed by Prof. Luisa Mestroni)"},"content":{"rendered":"

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heart muscle disease that affects predominantly the right ventricle and cause sudden cardiac death. We studied 156 ARVC patients lacking variants in known ARVC genes, and identified two unique FLNCtv<\/em> variants in two families fulfilling \u201cdefinite\u201d diagnosis according to the 2010 ARVC Task Force Criteria. Segregation analysis revealed that one of them was a de novo variant<\/em>. In both families the disease phenotype was characterized by prominent ventricular arrhythmias and sudden cardiac arrest. Our findings should prompt inclusion of FLNC<\/em> genetic testing in ARVC to improve diagnostic yield and testing of at-risk relatives. (https:\/\/jmg.bmj.com\/content\/early\/2020\/01\/10\/jmedgenet-2019-106394<\/a> )<\/p>\n

\"\"<\/a><\/p>\n","protected":false},"excerpt":{"rendered":"

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heart muscle disease that affects predominantly the right ventricle and cause sudden cardiac death. We studied 156 ARVC patients lacking variants in known ARVC genes, and identified two unique FLNCtv variants in two families fulfilling \u201cdefinite\u201d diagnosis according to the 2010 ARVC Task Force Criteria. Segregation analysis revealed […]<\/p>\n

Read More…<\/a><\/p>\n","protected":false},"author":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-1400","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"\nFLNC truncations cause arrhythmogenic right ventricular cardiomyopathy (Contributed by Prof. Luisa Mestroni) - JMG Contact blog<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/blogs.bmj.com\/jmg\/2020\/01\/11\/flnc-truncations-cause-arrhythmogenic-right-ventricular-cardiomyopathy\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"FLNC truncations cause arrhythmogenic right ventricular cardiomyopathy (Contributed by Prof. Luisa Mestroni) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heart muscle disease that affects predominantly the right ventricle and cause sudden cardiac death. We studied 156 ARVC patients lacking variants in known ARVC genes, and identified two unique FLNCtv variants in two families fulfilling \u201cdefinite\u201d diagnosis according to the 2010 ARVC Task Force Criteria. Segregation analysis revealed [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2020\/01\/11\/flnc-truncations-cause-arrhythmogenic-right-ventricular-cardiomyopathy\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2020-01-11T16:00:00+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-24T00:19:58+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2020\/01\/unnamed.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"2500\" \/>\n\t<meta property=\"og:image:height\" content=\"1875\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/jpeg\" \/>\n<meta name=\"author\" content=\"hqqu\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@HuiQiQu\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"hqqu\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"1 minute\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/01\\\/11\\\/flnc-truncations-cause-arrhythmogenic-right-ventricular-cardiomyopathy\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/01\\\/11\\\/flnc-truncations-cause-arrhythmogenic-right-ventricular-cardiomyopathy\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"FLNC truncations cause arrhythmogenic right ventricular cardiomyopathy (Contributed by Prof. Luisa Mestroni)\",\"datePublished\":\"2020-01-11T16:00:00+00:00\",\"dateModified\":\"2026-02-24T00:19:58+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/01\\\/11\\\/flnc-truncations-cause-arrhythmogenic-right-ventricular-cardiomyopathy\\\/\"},\"wordCount\":118,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/01\\\/11\\\/flnc-truncations-cause-arrhythmogenic-right-ventricular-cardiomyopathy\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2020\\\/01\\\/unnamed-300x225.jpg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/01\\\/11\\\/flnc-truncations-cause-arrhythmogenic-right-ventricular-cardiomyopathy\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/01\\\/11\\\/flnc-truncations-cause-arrhythmogenic-right-ventricular-cardiomyopathy\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/01\\\/11\\\/flnc-truncations-cause-arrhythmogenic-right-ventricular-cardiomyopathy\\\/\",\"name\":\"FLNC truncations cause arrhythmogenic right ventricular cardiomyopathy (Contributed by Prof. Luisa Mestroni) - 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