{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T13:15:08Z","timestamp":1790946908458,"version":"4.1.0"},"reference-count":71,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"10","content-domain":{"domain":["www.ahajournals.org"],"crossmark-restriction":true},"short-container-title":["Circulation"],"published-print":{"date-parts":[[2020,9,8]]},"abstract":"<jats:sec>\n            <jats:title>Background:<\/jats:title>\n            <jats:p>\n              Genetic variants in calsequestrin-2 (\n              <jats:italic>CASQ2<\/jats:italic>\n              ) cause an autosomal recessive form of catecholaminergic polymorphic ventricular tachycardia (CPVT), although isolated reports have identified arrhythmic phenotypes among heterozygotes. Improved insight into the inheritance patterns, arrhythmic risks, and molecular mechanisms of\n              <jats:italic>CASQ2<\/jats:italic>\n              -CPVT was sought through an international multicenter collaboration.\n            <\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods:<\/jats:title>\n            <jats:p>\n              Genotype-phenotype segregation in\n              <jats:italic>CASQ2<\/jats:italic>\n              -CPVT families was assessed, and the impact of genotype on arrhythmic risk was evaluated using Cox regression models. Putative dominant\n              <jats:italic>CASQ2<\/jats:italic>\n              missense variants and the established recessive CASQ2-p.R33Q variant were evaluated using oligomerization assays and their locations mapped to a recent CASQ2 filament structure.\n            <\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results:<\/jats:title>\n            <jats:p>\n              A total of 112 individuals, including 36 CPVT probands (24 homozygotes\/compound heterozygotes and 12 heterozygotes) and 76 family members possessing at least 1 presumed pathogenic\n              <jats:italic>CASQ2<\/jats:italic>\n              variant, were identified. Among\n              <jats:italic>CASQ2<\/jats:italic>\n              homozygotes and compound heterozygotes, clinical penetrance was 97.1% and 26 of 34 (76.5%) individuals had experienced a potentially fatal arrhythmic event with a median age of onset of 7 years (95% CI, 6\u201311). Fifty-one of 66\n              <jats:italic>CASQ2<\/jats:italic>\n              heterozygous family members had undergone clinical evaluation, and 17 of 51 (33.3%) met diagnostic criteria for CPVT. Relative to\n              <jats:italic>CASQ2<\/jats:italic>\n              heterozygotes,\n              <jats:italic>CASQ2<\/jats:italic>\n              homozygote\/compound heterozygote genotype status in probands was associated with a 3.2-fold (95% CI, 1.3\u20138.0;\n              <jats:italic>P<\/jats:italic>\n              =0.013) increased hazard of a composite of cardiac syncope, aborted cardiac arrest, and sudden cardiac death, but a 38.8-fold (95% CI, 5.6\u2013269.1;\n              <jats:italic>P<\/jats:italic>\n              &lt;0.001) increased hazard in genotype-positive family members. In vitro turbidity assays revealed that p.R33Q and all 6 candidate dominant\n              <jats:italic>CASQ2<\/jats:italic>\n              missense variants evaluated exhibited filamentation defects, but only p.R33Q convincingly failed to dimerize. Structural analysis revealed that 3 of these 6 putative dominant negative missense variants localized to an electronegative pocket considered critical for back-to-back binding of dimers.\n            <\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusions:<\/jats:title>\n            <jats:p>\n              This international multicenter study of\n              <jats:italic>CASQ2<\/jats:italic>\n              -CPVT redefines its heritability and confirms that pathogenic heterozygous\n              <jats:italic>CASQ2<\/jats:italic>\n              variants may manifest with a CPVT phenotype, indicating a need to clinically screen these individuals. A dominant mode of inheritance appears intrinsic to certain missense variants because of their location and function within the CASQ2 filament structure.\n            <\/jats:p>\n          <\/jats:sec>","DOI":"10.1161\/circulationaha.120.045723","type":"journal-article","created":{"date-parts":[[2020,7,22]],"date-time":"2020-07-22T09:00:34Z","timestamp":1595408434000},"page":"932-947","update-policy":"https:\/\/doi.org\/10.1161\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":82,"title":["An International Multicenter Evaluation of Inheritance Patterns, Arrhythmic Risks, and Underlying Mechanisms of\n            <i>CASQ2<\/i>\n            -Catecholaminergic Polymorphic Ventricular Tachycardia"],"prefix":"10.1161","volume":"142","author":[{"given":"Kevin","family":"Ng","sequence":"first","affiliation":[{"name":"Section of Cardiac Electrophysiology, Division of Cardiology, Department of Medicine, Western University, London, ON, Canada (K.N., J.W., A.S.T., A.C.S., J.M., J.D.R.)."},{"name":"Cairns Hospital, Queensland, Australia (K.N.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6868-9121","authenticated-orcid":true,"given":"Erron W.","family":"Titus","sequence":"additional","affiliation":[{"name":"Cardiovascular Research Institute (E.W.T., F.H.D., N.J.R., R.C.D.), University of California, San Francisco."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Krystien V.","family":"Lieve","sequence":"additional","affiliation":[{"name":"Amsterdam University Medical Centre, University of Amsterdam, Heart Centre, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences, The Netherlands (K.V.L., C.v.d.W., A.A.M.W.)."},{"name":"European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (K.V.L., A. Mazzanti, I.D., T.R., C.v.d.W., A. Maltret, A.L., A.A.M.W., S.G.P.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas M.","family":"Roston","sequence":"additional","affiliation":[{"name":"Heart Rhythm Services, Division of Cardiology, Department of Medicine (T.M.R., A.D.K.), University of British Columbia, Vancouver, Canada."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Mazzanti","sequence":"additional","affiliation":[{"name":"European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (K.V.L., A. Mazzanti, I.D., T.R., C.v.d.W., A. Maltret, A.L., A.A.M.W., S.G.P.)."},{"name":"Molecular Cardiology, Istituti Clinici Scientifici Maugeri, Istituto di Ricovero e Cura a Carattere Scientifico and Department of Molecular Medicine, University of Pavia, Italy (A. Mazzanti, S.G.P.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4454-6489","authenticated-orcid":true,"given":"Frederick H.","family":"Deiter","sequence":"additional","affiliation":[{"name":"Cardiovascular Research Institute (E.W.T., F.H.D., N.J.R., R.C.D.), University of California, San Francisco."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Denjoy","sequence":"additional","affiliation":[{"name":"European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (K.V.L., A. Mazzanti, I.D., T.R., C.v.d.W., A. 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Martijn","family":"Bos","sequence":"additional","affiliation":[{"name":"Departments of Cardiovascular Medicine (Division of Heart Rhythm Services), Pediatric and Adolescent Medicine (Division of Pediatric Cardiology), and Molecular Pharmacology &amp; Experimental Therapeutics (Windland Smith Rice Sudden Death Genomics Laboratory), Mayo Clinic, Rochester, MN (J.M.B., M.J.A.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4315-8604","authenticated-orcid":true,"given":"Stephen A.","family":"Duffett","sequence":"additional","affiliation":[{"name":"Section of Cardiac Electrophysiology, Division of Cardiology, Department of Medicine, Memorial University, St. John\u2019s, Newfoundland and Labrador, Canada (S.P.C., S.A.D.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"van der Werf","sequence":"additional","affiliation":[{"name":"Amsterdam University Medical Centre, University of Amsterdam, Heart Centre, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences, The Netherlands (K.V.L., C.v.d.W., A.A.M.W.)."},{"name":"European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (K.V.L., A. 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