{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T12:22:28Z","timestamp":1789647748358,"version":"4.0.0"},"reference-count":113,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2023,2,8]],"date-time":"2023-02-08T00:00:00Z","timestamp":1675814400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Calcium (Ca2+) is the major mediator of cardiac contractile function. It plays a key role in regulating excitation\u2013contraction coupling and modulating the systolic and diastolic phases. Defective handling of intracellular Ca2+ can cause different types of cardiac dysfunction. Thus, the remodeling of Ca2+ handling has been proposed to be a part of the pathological mechanism leading to electrical and structural heart diseases. Indeed, to ensure appropriate electrical cardiac conduction and contraction, Ca2+ levels are regulated by several Ca2+-related proteins. This review focuses on the genetic etiology of cardiac diseases related to calcium mishandling. We will approach the subject by focalizing on two clinical entities: catecholaminergic polymorphic ventricular tachycardia (CPVT) as a cardiac channelopathy and hypertrophic cardiomyopathy (HCM) as a primary cardiomyopathy. Further, this review will illustrate the fact that despite the genetic and allelic heterogeneity of cardiac defects, calcium-handling perturbations are the common pathophysiological mechanism. The newly identified calcium-related genes and the genetic overlap between the associated heart diseases are also discussed in this review.<\/jats:p>","DOI":"10.3390\/ijms24043365","type":"journal-article","created":{"date-parts":[[2023,2,8]],"date-time":"2023-02-08T04:21:59Z","timestamp":1675830119000},"page":"3365","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["Calcium Handling in Inherited Cardiac Diseases: A Focus on Catecholaminergic Polymorphic Ventricular Tachycardia and Hypertrophic Cardiomyopathy"],"prefix":"10.3390","volume":"24","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0811-418X","authenticated-orcid":false,"given":"St\u00e9phane","family":"Zaffran","sequence":"first","affiliation":[{"name":"Marseille Medical Genetics, INSERM, Aix Marseille University, U1251 Marseille, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lilia","family":"Kraoua","sequence":"additional","affiliation":[{"name":"Department of Congenital and Hereditary Diseases, Charles Nicolle Hospital, Tunis 1006, Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6806-0072","authenticated-orcid":false,"given":"Hager","family":"Jaouadi","sequence":"additional","affiliation":[{"name":"Marseille Medical Genetics, INSERM, Aix Marseille University, U1251 Marseille, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,2,8]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1038\/415198a","article-title":"Cardiac excitation\u2013contraction coupling","volume":"415","author":"Bers","year":"2002","journal-title":"Nature"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1007\/5584_2017_106","article-title":"New Insights in Cardiac Calcium Handling and Excitation-Contraction Coupling","volume":"1067","author":"Gambardella","year":"2018","journal-title":"Adv. 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