{"id":1389,"date":"2019-11-29T15:51:10","date_gmt":"2019-11-29T15:51:10","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1389"},"modified":"2026-02-24T00:21:59","modified_gmt":"2026-02-24T00:21:59","slug":"cardiac-valve-involvement-in-adar-related-type-i-interferonopathy","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2019\/11\/29\/cardiac-valve-involvement-in-adar-related-type-i-interferonopathy\/","title":{"rendered":"Cardiac valve involvement in ADAR-related type I interferonopathy (Contributed by Dr Nandaki Keshavan)"},"content":{"rendered":"<p>The contribution of inflammation to inherited neurological diseases is not well understood. One subgroup of neurological diseases is caused by abnormalities of chemicals known as Type I interferons. We report for the first time heart valve calcification in three children that occurred as a complication of Type I interferon-associated neurodisability caused by mutations in the gene <em>ADAR<\/em>. Progression of heart valve calcification in these children led to heart failure in two cases and death in one. High interferon levels were detected in one of these patients, confirming that this type of inflammation may play a significant role in this disease. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2019\/11\/26\/jmedgenet-2019-106457\">https:\/\/jmg.bmj.com\/content\/early\/2019\/11\/26\/jmedgenet-2019-106457<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2019\/11\/29\/cardiac-valve-involvement-in-adar-related-type-i-interferonopathy\/fig-1-3\/\" rel=\"attachment wp-att-1390\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1390\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2019\/11\/Fig-1-300x225.jpg\" alt=\"\" width=\"300\" height=\"225\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2019\/11\/Fig-1-300x225.jpg 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2019\/11\/Fig-1-768x576.jpg 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2019\/11\/Fig-1-1024x768.jpg 1024w, https:\/\/blogs.bmj.com\/jmg\/files\/2019\/11\/Fig-1-640x480.jpg 640w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><\/p>\n<p><b>Figure 1<\/b>. Echocardiogram and CT imaging. Images are annotated with a red asterisk to indicate the position of calcifications.<\/p>\n<p>1A Four-chamber view demonstrating mitral valve calcification in patient 1<\/p>\n<p>1B Doppler echocardiogram demonstrating severe mitral regurgitation in patient 1<\/p>\n<p>1C Long axis view demonstrating aortic valve calcification in patient 1<\/p>\n<p>1D Short axis view demonstrating calcification of non-coronary and left coronary cusps of the aortic valve in patient 1<\/p>\n<p>1E Four-chamber view demonstrating mitral valve calcification in patient 2<\/p>\n<p>1F Doppler echocardiogram demonstrating mild mitral regurgitation in patient 2<\/p>\n<p>1G Computed tomography (CT) imaging demonstrating mitral valve calcification in patient 3<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>The contribution of inflammation to inherited neurological diseases is not well understood. One subgroup of neurological diseases is caused by abnormalities of chemicals known as Type I interferons. We report for the first time heart valve calcification in three children that occurred as a complication of Type I interferon-associated neurodisability caused by mutations in the [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2019\/11\/29\/cardiac-valve-involvement-in-adar-related-type-i-interferonopathy\/\">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-1389","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>Cardiac valve involvement in ADAR-related type I interferonopathy (Contributed by Dr Nandaki Keshavan) - 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\/2019\/11\/29\/cardiac-valve-involvement-in-adar-related-type-i-interferonopathy\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Cardiac valve involvement in ADAR-related type I interferonopathy (Contributed by Dr Nandaki Keshavan) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"The contribution of inflammation to inherited neurological diseases is not well understood. One subgroup of neurological diseases is caused by abnormalities of chemicals known as Type I interferons. We report for the first time heart valve calcification in three children that occurred as a complication of Type I interferon-associated neurodisability caused by mutations in the [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2019\/11\/29\/cardiac-valve-involvement-in-adar-related-type-i-interferonopathy\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2019-11-29T15:51:10+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-24T00:21:59+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2019\/11\/Fig-1.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"2999\" \/>\n\t<meta property=\"og:image:height\" content=\"2249\" \/>\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=\"2 minutes\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/11\\\/29\\\/cardiac-valve-involvement-in-adar-related-type-i-interferonopathy\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/11\\\/29\\\/cardiac-valve-involvement-in-adar-related-type-i-interferonopathy\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Cardiac valve involvement in ADAR-related type I interferonopathy (Contributed by Dr Nandaki Keshavan)\",\"datePublished\":\"2019-11-29T15:51:10+00:00\",\"dateModified\":\"2026-02-24T00:21:59+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/11\\\/29\\\/cardiac-valve-involvement-in-adar-related-type-i-interferonopathy\\\/\"},\"wordCount\":214,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/11\\\/29\\\/cardiac-valve-involvement-in-adar-related-type-i-interferonopathy\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2019\\\/11\\\/Fig-1-300x225.jpg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/11\\\/29\\\/cardiac-valve-involvement-in-adar-related-type-i-interferonopathy\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/11\\\/29\\\/cardiac-valve-involvement-in-adar-related-type-i-interferonopathy\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/11\\\/29\\\/cardiac-valve-involvement-in-adar-related-type-i-interferonopathy\\\/\",\"name\":\"Cardiac valve involvement in ADAR-related type I interferonopathy (Contributed by Dr Nandaki Keshavan) - 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