{"id":63833,"date":"2025-06-28T07:49:14","date_gmt":"2025-06-28T02:19:14","guid":{"rendered":"https:\/\/johnsonfrancis.org\/professional\/?p=63833"},"modified":"2025-06-28T07:55:10","modified_gmt":"2025-06-28T02:25:10","slug":"what-is-ankyrin-b-syndrome","status":"publish","type":"post","link":"https:\/\/johnsonfrancis.org\/professional\/what-is-ankyrin-b-syndrome\/","title":{"rendered":"What is Ankyrin-B syndrome?"},"content":{"rendered":"<iframe loading=\"lazy\" width=\"560\" height=\"315\" src=\"https:\/\/www.youtube.com\/embed\/r-q7dPVsQ0I?si=3kEDgxcGrOEQqZYc\" title=\"YouTube video player\" frameborder=\"0\" allow=\"accelerometer; autoplay; clipboard-write; encrypted-media; gyroscope; picture-in-picture; web-share\" referrerpolicy=\"strict-origin-when-cross-origin\" allowfullscreen><\/iframe>\n\n<p class=\"wp-block-paragraph\">Ankyrin-B syndrome is due to ANK2 variants which result in ankyrin-B loss of function. Ankyrin B has roles in expression, localization and regulation of proteins important in cardiac excitability, cytoskeletal integrity and signaling [1,2]. It is a complex cardiac phenotype which may include bradycardia, conduction block, atrial fibrillation, QT interval prolongation and catecholaminergic polymorphic ventricular tachycardia (CPVT). Representative image indicates bidirectional ventricular tachycardia classical of CPVT. On a side note, other causes of bidirectional VT are digitalis toxicity and Andersen-Tawil syndrome. In CPVT, the arrhythmia can typically be reproduced by a very cautiously conducted exercise test [3].<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Usually Ankyrin-B syndrome is due to ANK2 loss-of-function point mutations. An interesting situation in which large chromosomal translocations resulted in ANK2 haploinsufficiency has also been reported [4]. In the family reported, reciprocal chromosomal translocation between chromosomes 4q25 and 9q26 that transects the ANK2 gene on chromosome 4 resulted in loss-of-function of ankyrin-B. Some family members with ankyrin-B haploinsufficiency due to the translocation displayed clinical features of ankyrin-B syndrome. Evaluation of primary lymphoblasts from a carrier of translocation showed altered levels of ankyrin-B and reduced expression of downstream ankyrin-binding partners.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>References<\/strong><\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li class=\"\">Koenig SN, Mohler PJ. The evolving role of ankyrin-B in cardiovascular disease. Heart Rhythm. 2017 Dec;14(12):1884-1889. doi: 10.1016\/j.hrthm.2017.07.032. Epub 2017 Jul 29. PMID: 28765088; PMCID: PMC5712256.<\/li>\n\n\n\n<li class=\"\">Huq AJ, Pertile MD, Davis AM, Landon H, James PA, Kline CF, Vohra J, Mohler PJ, Delatycki MB. A Novel Mechanism for Human Cardiac Ankyrin-B Syndrome due to Reciprocal Chromosomal Translocation. Heart Lung Circ. 2017 Jun;26(6):612-618. doi: 10.1016\/j.hlc.2016.09.013. Epub 2016 Nov 16. PMID: 27916589; PMCID: PMC5413386.<\/li>\n\n\n\n<li class=\"\">Song J, Sasmita BR, Deng G. Ankyrin-2 genetic variants: A case of Ankyrin-B syndrome. Ann Noninvasive Electrocardiol. 2022 Jul;27(4):e12933. doi: 10.1111\/anec.12933. Epub 2022 Feb 28. PMID: 35224819; PMCID: PMC9296800.<\/li>\n\n\n\n<li class=\"\">Huq AJ, Pertile MD, Davis AM, Landon H, James PA, Kline CF, Vohra J, Mohler PJ, Delatycki MB. A Novel Mechanism for Human Cardiac Ankyrin-B Syndrome due to Reciprocal Chromosomal Translocation. Heart Lung Circ. 2017 Jun;26(6):612-618. doi: 10.1016\/j.hlc.2016.09.013. Epub 2016 Nov 16. PMID: 27916589; PMCID: PMC5413386.<\/li>\n<\/ol>\n","protected":false},"excerpt":{"rendered":"<p>Ankyrin-B syndrome is due to ANK2 variants which result in ankyrin-B loss of function. Ankyrin B has roles in expression, localization and regulation of proteins important in cardiac excitability, cytoskeletal integrity and signaling [1,2]. It is a complex cardiac phenotype which may include bradycardia, conduction block, atrial fibrillation, QT interval prolongation and catecholaminergic polymorphic ventricular [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":63834,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"nf_dc_page":"","footnotes":""},"categories":[9],"tags":[],"class_list":["post-63833","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>What is Ankyrin-B syndrome? - All About Cardiovascular System and Disorders<\/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:\/\/johnsonfrancis.org\/professional\/what-is-ankyrin-b-syndrome\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"What is Ankyrin-B syndrome? - All About Cardiovascular System and Disorders\" \/>\n<meta property=\"og:description\" content=\"Ankyrin-B syndrome is due to ANK2 variants which result in ankyrin-B loss of function. Ankyrin B has roles in expression, localization and regulation of proteins important in cardiac excitability, cytoskeletal integrity and signaling [1,2]. It is a complex cardiac phenotype which may include bradycardia, conduction block, atrial fibrillation, QT interval prolongation and catecholaminergic polymorphic ventricular [&hellip;]\" \/>\n<meta property=\"og:url\" content=\"https:\/\/johnsonfrancis.org\/professional\/what-is-ankyrin-b-syndrome\/\" \/>\n<meta property=\"og:site_name\" content=\"All About Cardiovascular System and Disorders\" \/>\n<meta property=\"article:published_time\" content=\"2025-06-28T02:19:14+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2025-06-28T02:25:10+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/johnsonfrancis.org\/professional\/wp-content\/uploads\/2025\/06\/What-is-Ankyrin-B-syndrome.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"1209\" \/>\n\t<meta property=\"og:image:height\" content=\"675\" \/>\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=\"2 minutes\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/johnsonfrancis.org\\\/professional\\\/what-is-ankyrin-b-syndrome\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/johnsonfrancis.org\\\/professional\\\/what-is-ankyrin-b-syndrome\\\/\"},\"author\":{\"name\":\"Johnson Francis\",\"@id\":\"https:\\\/\\\/johnsonfrancis.org\\\/professional\\\/#\\\/schema\\\/person\\\/5441d907049b914770f4bd98fb57feec\"},\"headline\":\"What is Ankyrin-B syndrome?\",\"datePublished\":\"2025-06-28T02:19:14+00:00\",\"dateModified\":\"2025-06-28T02:25:10+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/johnsonfrancis.org\\\/professional\\\/what-is-ankyrin-b-syndrome\\\/\"},\"wordCount\":325,\"publisher\":{\"@id\":\"https:\\\/\\\/johnsonfrancis.org\\\/professional\\\/#\\\/schema\\\/person\\\/5441d907049b914770f4bd98fb57feec\"},\"image\":{\"@id\":\"https:\\\/\\\/johnsonfrancis.org\\\/professional\\\/what-is-ankyrin-b-syndrome\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/johnsonfrancis.org\\\/professional\\\/wp-content\\\/uploads\\\/2025\\\/06\\\/What-is-Ankyrin-B-syndrome.jpg\",\"articleSection\":[\"General Cardiology\"],\"inLanguage\":\"en-US\"},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/johnsonfrancis.org\\\/professional\\\/what-is-ankyrin-b-syndrome\\\/\",\"url\":\"https:\\\/\\\/johnsonfrancis.org\\\/professional\\\/what-is-ankyrin-b-syndrome\\\/\",\"name\":\"What is Ankyrin-B syndrome? 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