{"id":7139,"date":"2012-04-22T13:50:49","date_gmt":"2012-04-22T13:50:49","guid":{"rendered":"http:\/\/cardiophile.org\/?p=7139"},"modified":"2023-08-03T13:57:06","modified_gmt":"2023-08-03T08:27:06","slug":"costello-syndrome","status":"publish","type":"post","link":"https:\/\/johnsonfrancis.org\/professional\/costello-syndrome\/","title":{"rendered":"Costello syndrome"},"content":{"rendered":"<p><iframe loading=\"lazy\" width=\"560\" height=\"315\" src=\"https:\/\/www.youtube.com\/embed\/v17I6RU9IBs\" title=\"YouTube video player\" frameborder=\"0\" allow=\"accelerometer; autoplay; clipboard-write; encrypted-media; gyroscope; picture-in-picture; web-share\" allowfullscreen=\"\"><\/iframe><\/p>\n<h2><span style=\"color: #008000;\">Costello syndrome<\/span><\/h2>\n<p>Costello syndrome is a genetic disorder due to missense mutations in HRAS gene [1], which is detected in 80 \u2013 90% of those with the clinical diagnosis and can have cardiac involvement. Aoki et al identified four heterozygous de novo mutations of HRAS in twelve of thirteen patients studied by them. These have been previously reported as somatic and oncogenic mutations in various tumours. The authors noted that germline mutations in HRAS alter human development and increase susceptibility to tumours. Patients with Costello syndrome have a 15% lifetime risk of malignant tumors including rhabdomyosarcoma, neuroblastoma and transitional cell carcinoma. Inheritance is in an autosomal dominant pattern.<\/p>\n<p>Cardiac involvement in Costello syndrome occurs in the form of <a href=\"https:\/\/johnsonfrancis.org\/professional\/hcm-with-mild-ar\/\">hypertrophic cardiomyopathy<\/a>, valvular pulmonary stenosis and atrial arrhythmias (chaotic atrial rhythm\/multifocal atrial tachycardia or ectopic atrial tachycardia). Children with Costello syndrome have failure to thrive, short stature, developmental delay, intellectual disability, coarse facial features, hypotonia and joint laxity. Polyhydramnios, often severe, is an important prenatal association (90%) as well as severe postnatal feeding difficulties.<\/p>\n<p><strong><span style=\"color: #0000ff;\">Reference<\/span><\/strong><\/p>\n<ol>\n<li>Yoko Aoki, Tetsuya Niihori, Hiroshi Kawame, Kenji Kurosawa, Hirofumi Ohashi, Yukichi Tanaka, Mirella Filocamo, Kumi Kato, Yoichi Suzuki, Shigeo Kure, Yoichi Matsubara. <a href=\"http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/16170316\">Germline mutations in HRAS proto-oncogene cause Costello syndrome<\/a>. Nat Genet. 2005 Oct;37(10):1038-40.<\/li>\n<\/ol>\n","protected":false},"excerpt":{"rendered":"<p>Cardiac involvement in Costello syndrome: hypertrophic cardiomyopathy, valvular pulmonary stenosis, atrial arrhythmias (chaotic atrial rhythm\/ MAT or EAT).<\/p>\n","protected":false},"author":1,"featured_media":60374,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"nf_dc_page":"","footnotes":""},"categories":[9],"tags":[],"class_list":["post-7139","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-general"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.9 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Costello syndrome<\/title>\n<meta name=\"description\" content=\"Cardiac involvement in Costello syndrome: hypertrophic cardiomyopathy, valvular pulmonary stenosis, atrial arrhythmias (chaotic atrial rhythm\/ MAT or EAT).\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/johnsonfrancis.org\/professional\/costello-syndrome\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Costello syndrome\" \/>\n<meta property=\"og:description\" content=\"Cardiac involvement in Costello syndrome: hypertrophic cardiomyopathy, valvular pulmonary stenosis, atrial arrhythmias (chaotic atrial rhythm\/ MAT or EAT).\" \/>\n<meta property=\"og:url\" content=\"https:\/\/johnsonfrancis.org\/professional\/costello-syndrome\/\" \/>\n<meta property=\"og:site_name\" content=\"All About Cardiovascular System and Disorders\" \/>\n<meta property=\"article:published_time\" content=\"2012-04-22T13:50:49+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2023-08-03T08:27:06+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/johnsonfrancis.org\/professional\/wp-content\/uploads\/2012\/04\/Costello-Syndrome.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"1200\" \/>\n\t<meta property=\"og:image:height\" content=\"891\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/jpeg\" \/>\n<meta name=\"author\" content=\"Johnson Francis\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"Johnson Francis\" \/>\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:\\\/\\\/johnsonfrancis.org\\\/professional\\\/costello-syndrome\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/johnsonfrancis.org\\\/professional\\\/costello-syndrome\\\/\"},\"author\":{\"name\":\"Johnson Francis\",\"@id\":\"https:\\\/\\\/johnsonfrancis.org\\\/professional\\\/#\\\/schema\\\/person\\\/5441d907049b914770f4bd98fb57feec\"},\"headline\":\"Costello syndrome\",\"datePublished\":\"2012-04-22T13:50:49+00:00\",\"dateModified\":\"2023-08-03T08:27:06+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/johnsonfrancis.org\\\/professional\\\/costello-syndrome\\\/\"},\"wordCount\":204,\"publisher\":{\"@id\":\"https:\\\/\\\/johnsonfrancis.org\\\/professional\\\/#\\\/schema\\\/person\\\/5441d907049b914770f4bd98fb57feec\"},\"image\":{\"@id\":\"https:\\\/\\\/johnsonfrancis.org\\\/professional\\\/costello-syndrome\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/johnsonfrancis.org\\\/professional\\\/wp-content\\\/uploads\\\/2012\\\/04\\\/Costello-Syndrome.jpg\",\"articleSection\":[\"General Cardiology\"],\"inLanguage\":\"en-US\"},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/johnsonfrancis.org\\\/professional\\\/costello-syndrome\\\/\",\"url\":\"https:\\\/\\\/johnsonfrancis.org\\\/professional\\\/costello-syndrome\\\/\",\"name\":\"Costello syndrome\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/johnsonfrancis.org\\\/professional\\\/#website\"},\"primaryImageOfPage\":{\"@id\":\"https:\\\/\\\/johnsonfrancis.org\\\/professional\\\/costello-syndrome\\\/#primaryimage\"},\"image\":{\"@id\":\"https:\\\/\\\/johnsonfrancis.org\\\/professional\\\/costello-syndrome\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/johnsonfrancis.org\\\/professional\\\/wp-content\\\/uploads\\\/2012\\\/04\\\/Costello-Syndrome.jpg\",\"datePublished\":\"2012-04-22T13:50:49+00:00\",\"dateModified\":\"2023-08-03T08:27:06+00:00\",\"description\":\"Cardiac involvement in Costello syndrome: hypertrophic cardiomyopathy, valvular pulmonary stenosis, atrial arrhythmias (chaotic atrial rhythm\\\/ MAT or EAT).\",\"breadcrumb\":{\"@id\":\"https:\\\/\\\/johnsonfrancis.org\\\/professional\\\/costello-syndrome\\\/#breadcrumb\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\\\/\\\/johnsonfrancis.org\\\/professional\\\/costello-syndrome\\\/\"]}]},{\"@type\":\"ImageObject\",\"inLanguage\":\"en-US\",\"@id\":\"https:\\\/\\\/johnsonfrancis.org\\\/professional\\\/costello-syndrome\\\/#primaryimage\",\"url\":\"https:\\\/\\\/johnsonfrancis.org\\\/professional\\\/wp-content\\\/uploads\\\/2012\\\/04\\\/Costello-Syndrome.jpg\",\"contentUrl\":\"https:\\\/\\\/johnsonfrancis.org\\\/professional\\\/wp-content\\\/uploads\\\/2012\\\/04\\\/Costello-Syndrome.jpg\",\"width\":1200,\"height\":891},{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\\\/\\\/johnsonfrancis.org\\\/professional\\\/costello-syndrome\\\/#breadcrumb\",\"itemListElement\":[{\"@type\":\"ListItem\",\"position\":1,\"name\":\"Home\",\"item\":\"https:\\\/\\\/johnsonfrancis.org\\\/professional\\\/\"},{\"@type\":\"ListItem\",\"position\":2,\"name\":\"Costello syndrome\"}]},{\"@type\":\"WebSite\",\"@id\":\"https:\\\/\\\/johnsonfrancis.org\\\/professional\\\/#website\",\"url\":\"https:\\\/\\\/johnsonfrancis.org\\\/professional\\\/\",\"name\":\"All About Cardiovascular System and Disorders\",\"description\":\"\",\"publisher\":{\"@id\":\"https:\\\/\\\/johnsonfrancis.org\\\/professional\\\/#\\\/schema\\\/person\\\/5441d907049b914770f4bd98fb57feec\"},\"potentialAction\":[{\"@type\":\"SearchAction\",\"target\":{\"@type\":\"EntryPoint\",\"urlTemplate\":\"https:\\\/\\\/johnsonfrancis.org\\\/professional\\\/?s={search_term_string}\"},\"query-input\":{\"@type\":\"PropertyValueSpecification\",\"valueRequired\":true,\"valueName\":\"search_term_string\"}}],\"inLanguage\":\"en-US\"},{\"@type\":[\"Person\",\"Organization\"],\"@id\":\"https:\\\/\\\/johnsonfrancis.org\\\/professional\\\/#\\\/schema\\\/person\\\/5441d907049b914770f4bd98fb57feec\",\"name\":\"Johnson Francis\",\"image\":{\"@type\":\"ImageObject\",\"inLanguage\":\"en-US\",\"@id\":\"https:\\\/\\\/secure.gravatar.com\\\/avatar\\\/80861b82c3f559be9e413245c5643b6c483c93495507facfe32cf96ccd8bcffd?s=96&d=mm&r=g\",\"url\":\"https:\\\/\\\/secure.gravatar.com\\\/avatar\\\/80861b82c3f559be9e413245c5643b6c483c93495507facfe32cf96ccd8bcffd?s=96&d=mm&r=g\",\"contentUrl\":\"https:\\\/\\\/secure.gravatar.com\\\/avatar\\\/80861b82c3f559be9e413245c5643b6c483c93495507facfe32cf96ccd8bcffd?s=96&d=mm&r=g\",\"caption\":\"Johnson Francis\"},\"logo\":{\"@id\":\"https:\\\/\\\/secure.gravatar.com\\\/avatar\\\/80861b82c3f559be9e413245c5643b6c483c93495507facfe32cf96ccd8bcffd?s=96&d=mm&r=g\"},\"description\":\"Former Professor of Cardiology, Calicut Govt. Medical Kozhikode, Kerala, India. Editor-in-Chief, BMH Medical Journal\",\"url\":\"https:\\\/\\\/johnsonfrancis.org\\\/professional\\\/author\\\/jf\\\/\"}]}<\/script>\n<!-- \/ Yoast SEO plugin. -->","yoast_head_json":{"title":"Costello syndrome","description":"Cardiac involvement in Costello syndrome: hypertrophic cardiomyopathy, valvular pulmonary stenosis, atrial arrhythmias (chaotic atrial rhythm\/ MAT or EAT).","robots":{"index":"index","follow":"follow","max-snippet":"max-snippet:-1","max-image-preview":"max-image-preview:large","max-video-preview":"max-video-preview:-1"},"canonical":"https:\/\/johnsonfrancis.org\/professional\/costello-syndrome\/","og_locale":"en_US","og_type":"article","og_title":"Costello syndrome","og_description":"Cardiac involvement in Costello syndrome: hypertrophic cardiomyopathy, valvular pulmonary stenosis, atrial arrhythmias (chaotic atrial rhythm\/ MAT or EAT).","og_url":"https:\/\/johnsonfrancis.org\/professional\/costello-syndrome\/","og_site_name":"All About Cardiovascular System and Disorders","article_published_time":"2012-04-22T13:50:49+00:00","article_modified_time":"2023-08-03T08:27:06+00:00","og_image":[{"width":1200,"height":891,"url":"https:\/\/johnsonfrancis.org\/professional\/wp-content\/uploads\/2012\/04\/Costello-Syndrome.jpg","type":"image\/jpeg"}],"author":"Johnson Francis","twitter_card":"summary_large_image","twitter_misc":{"Written by":"Johnson Francis","Est. reading time":"1 minute"},"schema":{"@context":"https:\/\/schema.org","@graph":[{"@type":"Article","@id":"https:\/\/johnsonfrancis.org\/professional\/costello-syndrome\/#article","isPartOf":{"@id":"https:\/\/johnsonfrancis.org\/professional\/costello-syndrome\/"},"author":{"name":"Johnson Francis","@id":"https:\/\/johnsonfrancis.org\/professional\/#\/schema\/person\/5441d907049b914770f4bd98fb57feec"},"headline":"Costello syndrome","datePublished":"2012-04-22T13:50:49+00:00","dateModified":"2023-08-03T08:27:06+00:00","mainEntityOfPage":{"@id":"https:\/\/johnsonfrancis.org\/professional\/costello-syndrome\/"},"wordCount":204,"publisher":{"@id":"https:\/\/johnsonfrancis.org\/professional\/#\/schema\/person\/5441d907049b914770f4bd98fb57feec"},"image":{"@id":"https:\/\/johnsonfrancis.org\/professional\/costello-syndrome\/#primaryimage"},"thumbnailUrl":"https:\/\/johnsonfrancis.org\/professional\/wp-content\/uploads\/2012\/04\/Costello-Syndrome.jpg","articleSection":["General Cardiology"],"inLanguage":"en-US"},{"@type":"WebPage","@id":"https:\/\/johnsonfrancis.org\/professional\/costello-syndrome\/","url":"https:\/\/johnsonfrancis.org\/professional\/costello-syndrome\/","name":"Costello syndrome","isPartOf":{"@id":"https:\/\/johnsonfrancis.org\/professional\/#website"},"primaryImageOfPage":{"@id":"https:\/\/johnsonfrancis.org\/professional\/costello-syndrome\/#primaryimage"},"image":{"@id":"https:\/\/johnsonfrancis.org\/professional\/costello-syndrome\/#primaryimage"},"thumbnailUrl":"https:\/\/johnsonfrancis.org\/professional\/wp-content\/uploads\/2012\/04\/Costello-Syndrome.jpg","datePublished":"2012-04-22T13:50:49+00:00","dateModified":"2023-08-03T08:27:06+00:00","description":"Cardiac involvement in Costello syndrome: hypertrophic cardiomyopathy, valvular pulmonary stenosis, atrial arrhythmias (chaotic atrial rhythm\/ MAT or EAT).","breadcrumb":{"@id":"https:\/\/johnsonfrancis.org\/professional\/costello-syndrome\/#breadcrumb"},"inLanguage":"en-US","potentialAction":[{"@type":"ReadAction","target":["https:\/\/johnsonfrancis.org\/professional\/costello-syndrome\/"]}]},{"@type":"ImageObject","inLanguage":"en-US","@id":"https:\/\/johnsonfrancis.org\/professional\/costello-syndrome\/#primaryimage","url":"https:\/\/johnsonfrancis.org\/professional\/wp-content\/uploads\/2012\/04\/Costello-Syndrome.jpg","contentUrl":"https:\/\/johnsonfrancis.org\/professional\/wp-content\/uploads\/2012\/04\/Costello-Syndrome.jpg","width":1200,"height":891},{"@type":"BreadcrumbList","@id":"https:\/\/johnsonfrancis.org\/professional\/costello-syndrome\/#breadcrumb","itemListElement":[{"@type":"ListItem","position":1,"name":"Home","item":"https:\/\/johnsonfrancis.org\/professional\/"},{"@type":"ListItem","position":2,"name":"Costello syndrome"}]},{"@type":"WebSite","@id":"https:\/\/johnsonfrancis.org\/professional\/#website","url":"https:\/\/johnsonfrancis.org\/professional\/","name":"All About Cardiovascular System and Disorders","description":"","publisher":{"@id":"https:\/\/johnsonfrancis.org\/professional\/#\/schema\/person\/5441d907049b914770f4bd98fb57feec"},"potentialAction":[{"@type":"SearchAction","target":{"@type":"EntryPoint","urlTemplate":"https:\/\/johnsonfrancis.org\/professional\/?s={search_term_string}"},"query-input":{"@type":"PropertyValueSpecification","valueRequired":true,"valueName":"search_term_string"}}],"inLanguage":"en-US"},{"@type":["Person","Organization"],"@id":"https:\/\/johnsonfrancis.org\/professional\/#\/schema\/person\/5441d907049b914770f4bd98fb57feec","name":"Johnson Francis","image":{"@type":"ImageObject","inLanguage":"en-US","@id":"https:\/\/secure.gravatar.com\/avatar\/80861b82c3f559be9e413245c5643b6c483c93495507facfe32cf96ccd8bcffd?s=96&d=mm&r=g","url":"https:\/\/secure.gravatar.com\/avatar\/80861b82c3f559be9e413245c5643b6c483c93495507facfe32cf96ccd8bcffd?s=96&d=mm&r=g","contentUrl":"https:\/\/secure.gravatar.com\/avatar\/80861b82c3f559be9e413245c5643b6c483c93495507facfe32cf96ccd8bcffd?s=96&d=mm&r=g","caption":"Johnson Francis"},"logo":{"@id":"https:\/\/secure.gravatar.com\/avatar\/80861b82c3f559be9e413245c5643b6c483c93495507facfe32cf96ccd8bcffd?s=96&d=mm&r=g"},"description":"Former Professor of Cardiology, Calicut Govt. Medical Kozhikode, Kerala, India. Editor-in-Chief, BMH Medical Journal","url":"https:\/\/johnsonfrancis.org\/professional\/author\/jf\/"}]}},"amp_enabled":true,"_links":{"self":[{"href":"https:\/\/johnsonfrancis.org\/professional\/wp-json\/wp\/v2\/posts\/7139","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/johnsonfrancis.org\/professional\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/johnsonfrancis.org\/professional\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/johnsonfrancis.org\/professional\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/johnsonfrancis.org\/professional\/wp-json\/wp\/v2\/comments?post=7139"}],"version-history":[{"count":6,"href":"https:\/\/johnsonfrancis.org\/professional\/wp-json\/wp\/v2\/posts\/7139\/revisions"}],"predecessor-version":[{"id":60376,"href":"https:\/\/johnsonfrancis.org\/professional\/wp-json\/wp\/v2\/posts\/7139\/revisions\/60376"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/johnsonfrancis.org\/professional\/wp-json\/wp\/v2\/media\/60374"}],"wp:attachment":[{"href":"https:\/\/johnsonfrancis.org\/professional\/wp-json\/wp\/v2\/media?parent=7139"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/johnsonfrancis.org\/professional\/wp-json\/wp\/v2\/categories?post=7139"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/johnsonfrancis.org\/professional\/wp-json\/wp\/v2\/tags?post=7139"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}