{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,16]],"date-time":"2026-01-16T07:17:55Z","timestamp":1768547875699,"version":"3.49.0"},"reference-count":14,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2023,2,23]],"date-time":"2023-02-23T00:00:00Z","timestamp":1677110400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCDD"],"abstract":"<jats:p>Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) is a rare electrical genetic disease characterized by ventricular polymorphic tachycardia and\/or bidirectional ventricular tachycardia induced by the release of catecholamines caused by intense physical or emotional stress in structurally normal hearts. Mostly, it is caused by mutations in genes that are involved in calcium homeostasis, in particular in the gene encoding for cardiac ryanodine receptor (RyR2). Our observation is the first description of familial CPVT caused by mutation of the RyR2 gene, linked to the complete AV block.<\/jats:p>","DOI":"10.3390\/jcdd10030097","type":"journal-article","created":{"date-parts":[[2023,2,23]],"date-time":"2023-02-23T04:32:33Z","timestamp":1677126753000},"page":"97","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["CPVT and Complete Atrio-Ventricular Block: The Flipside of the Same Coin"],"prefix":"10.3390","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9587-2746","authenticated-orcid":false,"given":"Mattia","family":"Petrungaro","sequence":"first","affiliation":[{"name":"Unit of Electrophysiology, Belcolle Hospital, 01100 Viterbo, Italy"},{"name":"Department of Clinical and Molecular Medicine, Sapienza University of Rome, 00100 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonio","family":"Scar\u00e0","sequence":"additional","affiliation":[{"name":"Unit of Cardiology and Electrophysiology, San Carlo di Nancy Hospital, 00100 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6698-7181","authenticated-orcid":false,"given":"Alessio","family":"Borrelli","sequence":"additional","affiliation":[{"name":"Unit of Cardiology and Electrophysiology, San Carlo di Nancy Hospital, 00100 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9669-1330","authenticated-orcid":false,"given":"Luigi","family":"Sciarra","sequence":"additional","affiliation":[{"name":"Department of Life, Health and Environmental Sciences, University of L\u2019Aquila, 67100 L\u2019Aquila, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,2,23]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"3997","DOI":"10.1093\/eurheartj\/ehac262","article-title":"2022 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death","volume":"43","author":"Zeppenfeld","year":"2022","journal-title":"Eur. Heart J."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"2817","DOI":"10.1113\/JP276757","article-title":"Molecular and tissue mechanisms of catecholaminergic polymorphic ventricular tachycardia","volume":"598","author":"Wleklinski","year":"2020","journal-title":"J. Physiol."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"1146","DOI":"10.1111\/jce.12763","article-title":"New Family with Catecholaminergic Polymorphic Ventricular Tachycardia Linked to the Triadin Gene","volume":"26","author":"Rooryck","year":"2015","journal-title":"J. Cardiovasc. 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Cardiol."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"790","DOI":"10.1016\/j.str.2011.03.016","article-title":"The deletion of exon 3 in the cardiac ryanodine receptor is rescued by b strand switching","volume":"19","author":"Lobo","year":"2011","journal-title":"Structure"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"1569","DOI":"10.1161\/CIRCULATIONAHA.107.711606","article-title":"Expanding spectrum of human RYR2-related disease: New electrocardiographic, structural, and genetic features","volume":"116","author":"Bhuiyan","year":"2007","journal-title":"Circulation"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1016\/j.jelectrocard.2016.09.006","article-title":"A novel RYR2 loss-of-function mutation (I4855M) is associated with left ventricular non-compaction and atypical catecholaminergic polymorphic ventricular tachycardia","volume":"50","author":"Roston","year":"2017","journal-title":"J. Electrocardiol."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"226","DOI":"10.1253\/circj.CJ-19-0720","article-title":"Co-Phenotype of Left Ventricular Non-Compaction Cardiomyopathy and Atypical Catecholaminergic Polymorphic Ventricular Tachycardia in Association with R169Q, a Ryanodine Receptor Type 2 Missense Mutation","volume":"84","author":"Nozaki","year":"2020","journal-title":"Circ. J."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1016\/j.seizure.2019.02.017","article-title":"Ryanodine receptor 2 (RYR2) mutation: A potentially novel neurocardiac calcium channelopathy manifesting as primary generalised epilepsy","volume":"67","author":"Yap","year":"2019","journal-title":"Seizure"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"629610","DOI":"10.3389\/fnins.2021.629610","article-title":"RYR2 Mutations Are Associated with Benign Epilepsy of Childhood with Centrotemporal Spikes with or without Arrhythmia","volume":"15","author":"Ma","year":"2021","journal-title":"Front. Neurosci."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"752","DOI":"10.1016\/j.hrthm.2017.12.027","article-title":"Structural and functional remodeling of the atrioventricular node with aging in rats: The role of hyperpolarization-activated cyclic nucleotide\u2013gated and ryanodine 2 channels","volume":"15","author":"Saeed","year":"2018","journal-title":"Hear. Rhythm."}],"container-title":["Journal of Cardiovascular Development and Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2308-3425\/10\/3\/97\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T18:40:21Z","timestamp":1760121621000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2308-3425\/10\/3\/97"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,2,23]]},"references-count":14,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2023,3]]}},"alternative-id":["jcdd10030097"],"URL":"https:\/\/doi.org\/10.3390\/jcdd10030097","relation":{},"ISSN":["2308-3425"],"issn-type":[{"value":"2308-3425","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,2,23]]}}}