{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T16:15:15Z","timestamp":1790957715901,"version":"4.1.0"},"reference-count":105,"publisher":"Oxford University Press (OUP)","issue":"6","license":[{"start":{"date-parts":[[2023,6,30]],"date-time":"2023-06-30T00:00:00Z","timestamp":1688083200000},"content-version":"vor","delay-in-days":29,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/100004411","name":"Heart and Stroke Foundation","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100004411","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Paul Brunes Chair in Heart Rhythm Disorders"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,6,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>The sarcoplasmatic reticulum (SR) cardiac ryanodine receptor\/calcium release channel RyR2 is an essential regulator of cardiac excitation\u2013contraction coupling and intracellular calcium homeostasis. Mutations of the RYR2 are the cause of rare, potentially lethal inherited arrhythmia disorders. Catecholaminergic polymorphic ventricular tachycardia (CPVT) was first described more than 20 years ago and is the most common and most extensively studied cardiac ryanodinopathy. Over time, other distinct inherited arrhythmia syndromes have been related to abnormal RyR2 function. In addition to CPVT, there are at least two other distinct RYR2-ryanodinopathies that differ mechanistically and phenotypically from CPVT: RYR2 exon-3 deletion syndrome and the recently identified calcium release deficiency syndrome (CRDS). The pathophysiology of the different cardiac ryanodinopathies is characterized by complex mechanisms resulting in excessive spontaneous SR calcium release or SR calcium release deficiency. While the vast majority of CPVT cases are related to gain-of-function variants of the RyR2 protein, the recently identified CRDS is linked to RyR2 loss-of-function variants. The increasing number of these cardiac \u2018ryanodinopathies\u2019 reflects the complexity of RYR2-related cardiogenetic disorders and represents an ongoing challenge for clinicians.<\/jats:p>\n               <jats:p>This state-of-the-art review summarizes our contemporary understanding of RYR2-related inherited arrhythmia disorders and provides a systematic and comprehensive description of the distinct cardiac ryanodinopathies discussing clinical aspects and molecular insights. Accurate identification of the underlying type of cardiac ryanodinopathy is essential for the clinical management of affected patients and their families.<\/jats:p>","DOI":"10.1093\/europace\/euad156","type":"journal-article","created":{"date-parts":[[2023,6,30]],"date-time":"2023-06-30T09:08:03Z","timestamp":1688116083000},"source":"Crossref","is-referenced-by-count":65,"title":["RYR2-ryanodinopathies: from calcium overload to calcium deficiency"],"prefix":"10.1093","volume":"25","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4112-0028","authenticated-orcid":false,"given":"Christian","family":"Steinberg","sequence":"first","affiliation":[{"name":"Institut universitaire de cardiologie et pneumologie de Qu\u00e9bec, Laval University , 2725, Chemin Ste-Foy, Quebec G1V 4G5 , Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5663-4377","authenticated-orcid":false,"given":"Thomas M","family":"Roston","sequence":"additional","affiliation":[{"name":"Centre for Cardiovascular Innovation, Division of Cardiology, St. Paul\u2019s Hospital, University of British Columbia , 211-1033 Davie Street, Vancouver, BC, V6E 1M7 , Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8703-8527","authenticated-orcid":false,"given":"Christian","family":"van der Werf","sequence":"additional","affiliation":[{"name":"Amsterdam UMC, Department of Clinical and Experimental Cardiology, University of Amsterdam, Heart Centre, Amsterdam Cardiovascular Sciences , Amsterdam , the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9296-7400","authenticated-orcid":false,"given":"Shubhayan","family":"Sanatani","sequence":"additional","affiliation":[{"name":"Division of Cardiology, Department of Pediatrics, BC Children\u2019s Hospital, University of British Columbia , Vancouver , Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5808-0304","authenticated-orcid":false,"given":"S R Wayne","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Physiology and Pharmacology, Libin Cardiovascular Institute, University of Calgary , Calgary , Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0528-0852","authenticated-orcid":false,"given":"Arthur A M","family":"Wilde","sequence":"additional","affiliation":[{"name":"Amsterdam UMC, Department of Clinical and Experimental Cardiology, University of Amsterdam, Heart Centre, Amsterdam Cardiovascular Sciences , Amsterdam , the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7982-1586","authenticated-orcid":false,"given":"Andrew D","family":"Krahn","sequence":"additional","affiliation":[{"name":"Centre for Cardiovascular Innovation, Division 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