Phenotypic Characterization of Timothy Syndrome Caused by the CACNA1C p.Gly402Ser Variant

HomeCirculation: Genomic and Precision MedicineVol. 16, No. 3Phenotypic Characterization of Timothy Syndrome Caused by the CACNA1C p.Gly402Ser Variant No AccessResearch ArticleRequest AccessFull TextAboutView Full TextView PDFView EPUBSections ToolsAdd to favoritesDownload citationsTrack citationsPermissions ShareShare onFacebookTwitterLinked InMendeleyReddit Jump toNo AccessResearch ArticleRequest AccessFull TextPhenotypic Characterization of Timothy Syndrome Caused by the CACNA1C p.Gly402Ser Variant Antoine Delinière, Christelle Haddad, Claudia Herrera-Siklódy, Alexis Hermida, Etienne Pruvot, Sabrina Bressieux-Degueldre, Gilles Millat, Alexandre Janin, Jean-Sylvain Hermida, Babken Asatryan and Philippe Chevalier Antoine DelinièreAntoine Delinière https://orcid.org/0000-0002-3742-9674 National Reference Center for Inherited Arrhythmias of Lyon, Department of Cardiac Electrophysiology, Hôpital Cardiologique Louis Pradel, Hospices Civils de Lyon (HCL), Lyon, France (A.D., C.H., P.C.). University of Lyon, Claude Bernard Lyon 1 University, MeLiS, CNRS UMR 5284, INSERM U1314, Institut NeuroMyoGène, Lyon, France (A.D., P.C.). Search for more papers by this author , Christelle HaddadChristelle Haddad National Reference Center for Inherited Arrhythmias of Lyon, Department of Cardiac Electrophysiology, Hôpital Cardiologique Louis Pradel, Hospices Civils de Lyon (HCL), Lyon, France (A.D., C.H., P.C.). Search for more papers by this author , Claudia Herrera-SiklódyClaudia Herrera-Siklódy https://orcid.org/0000-0001-6881-3073 Arrhythmia Unit, Department of Cardiology, Centre Hospitalier Universitaire Vaudois (CHUV), Lausanne, Switzerland (C.H.-S., E.P.). Search for more papers by this author , Alexis HermidaAlexis Hermida https://orcid.org/0000-0003-2392-3759 Cardiology, Arrhythmia, and Cardiac Stimulation Service, Amiens-Picardie University Hospital, Amiens, France (A.H., J.-S.H.). Search for more papers by this author , Etienne PruvotEtienne Pruvot https://orcid.org/0000-0003-1386-9285 Arrhythmia Unit, Department of Cardiology, Centre Hospitalier Universitaire Vaudois (CHUV), Lausanne, Switzerland (C.H.-S., E.P.). Search for more papers by this author , Sabrina Bressieux-DegueldreSabrina Bressieux-Degueldre https://orcid.org/0000-0001-5011-1495 Pediatric Cardiology Unit, Woman-Mother-Child Department, Centre Hospitalier Universitaire Vaudois (CHUV), Lausanne, Switzerland (S.B.-D.). Search for more papers by this author , Gilles MillatGilles Millat https://orcid.org/0000-0001-6127-0694 Cardiogenetic laboratory, Centre de biologie et pathologie Est, Hospices Civils de Lyon (HCL), Lyon, France (G.M., A.J.). Search for more papers by this author , Alexandre JaninAlexandre Janin https://orcid.org/0000-0003-3571-003X Cardiogenetic laboratory, Centre de biologie et pathologie Est, Hospices Civils de Lyon (HCL), Lyon, France (G.M., A.J.). Search for more papers by this author , Jean-Sylvain HermidaJean-Sylvain Hermida https://orcid.org/0000-0001-9276-2886 Cardiology, Arrhythmia, and Cardiac Stimulation Service, Amiens-Picardie University Hospital, Amiens, France (A.H., J.-S.H.). Search for more papers by this author , Babken AsatryanBabken Asatryan https://orcid.org/0000-0002-0050-5717 Department of Cardiology, Inselspital, Bern University Hospital, Bern, Switzerland (B.A.). Search for more papers by this author and Philippe ChevalierPhilippe Chevalier Correspondence to: Philippe Chevalier, MD, PhD, Department of Rhythmology, Louis Pradel Cardiovascular Hospital, 26 Avenue du Doyen Jean Lépine 69500 Bron, France. Email E-mail Address: [email protected] https://orcid.org/0000-0001-8185-2229 National Reference Center for Inherited Arrhythmias of Lyon, Department of Cardiac Electrophysiology, Hôpital Cardiologique Louis Pradel, Hospices Civils de Lyon (HCL), Lyon, France (A.D., C.H., P.C.). University of Lyon, Claude Bernard Lyon 1 University, MeLiS, CNRS UMR 5284, INSERM U1314, Institut NeuroMyoGène, Lyon, France (A.D., P.C.). Search for more papers by this author Originally published3 Apr 2023https://doi.org/10.1161/CIRCGEN.122.004010Circulation: Genomic and Precision Medicine. 2023;16:280–282FootnotesFor Sources of Funding and Disclosures, see page 281.Circulation: Genomic and Precision Medicine is available at www.ahajournals.org/journal/circgenCorrespondence to: Philippe Chevalier, MD, PhD, Department of Rhythmology, Louis Pradel Cardiovascular Hospital, 26 Avenue du Doyen Jean Lépine 69500 Bron, France. Email philippe.[email protected].frReferences1. Reichenbach H, Meister EM, Theile H. The heart-hand syndrome. A new variant of disorders of heart conduction and syndactylia including osseous changes in hands and feet.Kinderarztl Prax. 1992; 60:54–56. PMID: 1318983MedlineGoogle Scholar2. Walsh MA, Turner C, Timothy KW, Seller N, Hares DL, James AF, Hancox JC, Uzun O, Boyce D, Stuart AG, et al. A multicentre study of patients with Timothy syndrome.Europace. 2018; 20:377–385. doi: 10.1093/europace/euw433CrossrefMedlineGoogle Scholar3. Splawski I, Timothy KW, Decher N, Kumar P, Sachse FB, Beggs AH, Sanguinetti MC, Keating MT. Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations.Proc Natl Acad Sci U S A. 2005; 102:8089–8096; discussion 8086. doi: 10.1073/pnas.0502506102CrossrefMedlineGoogle Scholar4. Giudicessi JR, Ackerman MJ. Calcium revisited: new insights into the molecular basis of long-QT syndrome.Circ Arrhythm Electrophysiol. 2016; 9:002480. doi: 10.1161/CIRCEP.116.002480LinkGoogle Scholar5. Hermida A, Jedraszak G, Kubala M, Bourgain M, Bodeau S, Hermida J-S. Use of ranolazine as rescue therapy in a patient with Timothy syndrome type 2.Rev Esp Cardiol (Engl Ed). 2022; 75:447–448. doi: 10.1016/j.rec.2021.11.003CrossrefMedlineGoogle Scholar eLetters(0)eLetters should relate to an article recently published in the journal and are not a forum for providing unpublished data. Comments are reviewed for appropriate use of tone and language. Comments are not peer-reviewed. Acceptable comments are posted to the journal website only. Comments are not published in an issue and are not indexed in PubMed. Comments should be no longer than 500 words and will only be posted online. References are limited to 10. 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