{"id":673,"date":"2014-08-25T21:53:02","date_gmt":"2014-08-25T21:53:02","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=673"},"modified":"2026-02-25T19:41:43","modified_gmt":"2026-02-25T19:41:43","slug":"titin-and-desmosomal-genes-in-the-natural-history-of-arrhythmogenic-right-ventricular-cardiomyopathy","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2014\/08\/25\/titin-and-desmosomal-genes-in-the-natural-history-of-arrhythmogenic-right-ventricular-cardiomyopathy\/","title":{"rendered":"Titin and desmosomal genes in the natural history of arrhythmogenic right ventricular cardiomyopathy (Contributed by Drs. Francesca Brun and Luisa Mestroni for the authors)"},"content":{"rendered":"<p>Our study investigated the relationship between rare gene variants, clinical features and natural history in arrhythmogenic right ventricular cardiomyopathy. In particular, we explored the phenotype and outcome of rare variant carriers of the giant gene titin and desmosomal genes in a cohort of families with a long-term follow-up, up to 22 years. We found that desmosomal gene rare variant carriers were characterized by a severe prognosis and specific clinical and electrocardiographic features, while titin gene carriers had an intermediate outcome, supraventricular arrhythmias and severe conduction defects, information that may be useful in the clinical practice. (<a href=\"http:\/\/jmg.bmj.com\/content\/early\/2014\/08\/25\/jmedgenet-2014-102591\">http:\/\/jmg.bmj.com\/content\/early\/2014\/08\/25\/jmedgenet-2014-102591<\/a> )<\/p>\n<p>&nbsp;<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/files\/2014\/08\/photo-4-copy.jpg\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-full wp-image-674\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2014\/08\/photo-4-copy.jpg\" alt=\"photo (4) copy\" width=\"231\" height=\"238\" \/><\/a><\/p>\n<p>The two first authors, Francesca Brun , MD, and Carl Barnes, MD, presenting their work at the AHA meeting in Dallas, 2013.<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Our study investigated the relationship between rare gene variants, clinical features and natural history in arrhythmogenic right ventricular cardiomyopathy. In particular, we explored the phenotype and outcome of rare variant carriers of the giant gene titin and desmosomal genes in a cohort of families with a long-term follow-up, up to 22 years. We found that [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2014\/08\/25\/titin-and-desmosomal-genes-in-the-natural-history-of-arrhythmogenic-right-ventricular-cardiomyopathy\/\">Read More&#8230;<\/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-673","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.6 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Titin and desmosomal genes in the natural history of arrhythmogenic right ventricular cardiomyopathy (Contributed by Drs. Francesca Brun and Luisa Mestroni for the authors) - 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\/2014\/08\/25\/titin-and-desmosomal-genes-in-the-natural-history-of-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=\"Titin and desmosomal genes in the natural history of arrhythmogenic right ventricular cardiomyopathy (Contributed by Drs. Francesca Brun and Luisa Mestroni for the authors) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Our study investigated the relationship between rare gene variants, clinical features and natural history in arrhythmogenic right ventricular cardiomyopathy. In particular, we explored the phenotype and outcome of rare variant carriers of the giant gene titin and desmosomal genes in a cohort of families with a long-term follow-up, up to 22 years. We found that [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2014\/08\/25\/titin-and-desmosomal-genes-in-the-natural-history-of-arrhythmogenic-right-ventricular-cardiomyopathy\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2014-08-25T21:53:02+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-25T19:41:43+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2014\/08\/photo-4-copy.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"231\" \/>\n\t<meta property=\"og:image:height\" content=\"238\" \/>\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\\\/2014\\\/08\\\/25\\\/titin-and-desmosomal-genes-in-the-natural-history-of-arrhythmogenic-right-ventricular-cardiomyopathy\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2014\\\/08\\\/25\\\/titin-and-desmosomal-genes-in-the-natural-history-of-arrhythmogenic-right-ventricular-cardiomyopathy\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Titin and desmosomal genes in the natural history of arrhythmogenic right ventricular cardiomyopathy (Contributed by Drs. 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