{"id":1863,"date":"2023-07-01T14:12:15","date_gmt":"2023-07-01T14:12:15","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1863"},"modified":"2026-02-23T00:06:11","modified_gmt":"2026-02-23T00:06:11","slug":"mutation-in-mitral-valve-prolapse-susceptible-gene-dchs1-causes-familial-mitral-annular-disjunction","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2023\/07\/01\/mutation-in-mitral-valve-prolapse-susceptible-gene-dchs1-causes-familial-mitral-annular-disjunction\/","title":{"rendered":"Mutation in Mitral Valve Prolapse Susceptible Gene DCHS1 Causes Familial Mitral Annular Disjunction (Contributed by Nan ZHOU MD.,PhD.)"},"content":{"rendered":"<p>Mitral annular disjunction (MAD) is supposed to be the anatomic substrate of mitral valve prolapse (MVP) and ventricular arrhythmias, whereas little is known about its molecular genesis, if any. Herein, we conducted the initial genetic screening among sporadic and familial MAD cases. Our findings supported that longitudinally extensive MAD, rather than MAD with any distance, tended to be a genetically-predisposing phenotype. We also reported the first case that a mutation in DCHS1 co-segregated with familial MAD independent of MVP. The current study might expand the knowledge regarding the relationship between MAD and MVP, facilitating risk stratification and genetic counselling for these patients. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2023\/06\/29\/jmg-2023-109278\">https:\/\/jmg.bmj.com\/content\/early\/2023\/06\/29\/jmg-2023-109278<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2023\/07\/01\/mutation-in-mitral-valve-prolapse-susceptible-gene-dchs1-causes-familial-mitral-annular-disjunction\/untitled-67\/\" rel=\"attachment wp-att-1864\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1864\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2023\/07\/Untitled-300x108.png\" alt=\"\" width=\"300\" height=\"108\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2023\/07\/Untitled-300x108.png 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2023\/07\/Untitled-1024x370.png 1024w, https:\/\/blogs.bmj.com\/jmg\/files\/2023\/07\/Untitled-768x278.png 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2023\/07\/Untitled-640x231.png 640w, https:\/\/blogs.bmj.com\/jmg\/files\/2023\/07\/Untitled.png 1140w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Mitral annular disjunction (MAD) is supposed to be the anatomic substrate of mitral valve prolapse (MVP) and ventricular arrhythmias, whereas little is known about its molecular genesis, if any. Herein, we conducted the initial genetic screening among sporadic and familial MAD cases. Our findings supported that longitudinally extensive MAD, rather than MAD with any distance, [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2023\/07\/01\/mutation-in-mitral-valve-prolapse-susceptible-gene-dchs1-causes-familial-mitral-annular-disjunction\/\">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-1863","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.5 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Mutation in Mitral Valve Prolapse Susceptible Gene DCHS1 Causes Familial Mitral Annular Disjunction (Contributed by Nan ZHOU MD.,PhD.) - 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\/2023\/07\/01\/mutation-in-mitral-valve-prolapse-susceptible-gene-dchs1-causes-familial-mitral-annular-disjunction\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Mutation in Mitral Valve Prolapse Susceptible Gene DCHS1 Causes Familial Mitral Annular Disjunction (Contributed by Nan ZHOU MD.,PhD.) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Mitral annular disjunction (MAD) is supposed to be the anatomic substrate of mitral valve prolapse (MVP) and ventricular arrhythmias, whereas little is known about its molecular genesis, if any. Herein, we conducted the initial genetic screening among sporadic and familial MAD cases. Our findings supported that longitudinally extensive MAD, rather than MAD with any distance, [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2023\/07\/01\/mutation-in-mitral-valve-prolapse-susceptible-gene-dchs1-causes-familial-mitral-annular-disjunction\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2023-07-01T14:12:15+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-23T00:06:11+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2023\/07\/Untitled.png\" \/>\n\t<meta property=\"og:image:width\" content=\"1140\" \/>\n\t<meta property=\"og:image:height\" content=\"412\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/png\" \/>\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\\\/2023\\\/07\\\/01\\\/mutation-in-mitral-valve-prolapse-susceptible-gene-dchs1-causes-familial-mitral-annular-disjunction\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/07\\\/01\\\/mutation-in-mitral-valve-prolapse-susceptible-gene-dchs1-causes-familial-mitral-annular-disjunction\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Mutation in Mitral Valve Prolapse Susceptible Gene DCHS1 Causes Familial Mitral Annular Disjunction (Contributed by Nan ZHOU MD.,PhD.)\",\"datePublished\":\"2023-07-01T14:12:15+00:00\",\"dateModified\":\"2026-02-23T00:06:11+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/07\\\/01\\\/mutation-in-mitral-valve-prolapse-susceptible-gene-dchs1-causes-familial-mitral-annular-disjunction\\\/\"},\"wordCount\":129,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/07\\\/01\\\/mutation-in-mitral-valve-prolapse-susceptible-gene-dchs1-causes-familial-mitral-annular-disjunction\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2023\\\/07\\\/Untitled-300x108.png\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/07\\\/01\\\/mutation-in-mitral-valve-prolapse-susceptible-gene-dchs1-causes-familial-mitral-annular-disjunction\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/07\\\/01\\\/mutation-in-mitral-valve-prolapse-susceptible-gene-dchs1-causes-familial-mitral-annular-disjunction\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/07\\\/01\\\/mutation-in-mitral-valve-prolapse-susceptible-gene-dchs1-causes-familial-mitral-annular-disjunction\\\/\",\"name\":\"Mutation in Mitral Valve Prolapse Susceptible Gene DCHS1 Causes Familial Mitral Annular Disjunction (Contributed by Nan ZHOU MD.,PhD.) - 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