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

Affiliations

¹ 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.).
² University of Lyon, Claude Bernard Lyon 1 University, MeLiS, CNRS UMR 5284, INSERM U1314, Institut NeuroMyoGène, Lyon, France (A.D., P.C.).
³ Arrhythmia Unit, Department of Cardiology, Centre Hospitalier Universitaire Vaudois (CHUV), Lausanne, Switzerland (C.H.-S., E.P.).
⁴ Cardiology, Arrhythmia, and Cardiac Stimulation Service, Amiens-Picardie University Hospital, Amiens, France (A.H., J.-S.H.).
⁵ Pediatric Cardiology Unit, Woman-Mother-Child Department, Centre Hospitalier Universitaire Vaudois (CHUV), Lausanne, Switzerland (S.B.-D.).
⁶ Cardiogenetic laboratory, Centre de biologie et pathologie Est, Hospices Civils de Lyon (HCL), Lyon, France (G.M., A.J.).
⁷ Department of Cardiology, Inselspital, Bern University Hospital, Bern, Switzerland (B.A.).

Antoine Delinière et al. Circ Genom Precis Med. 2023 Jun.

. 2023 Jun;16(3):280-282.

doi: 10.1161/CIRCGEN.122.004010. Epub 2023 Apr 3.

¹ 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.).
² University of Lyon, Claude Bernard Lyon 1 University, MeLiS, CNRS UMR 5284, INSERM U1314, Institut NeuroMyoGène, Lyon, France (A.D., P.C.).
³ Arrhythmia Unit, Department of Cardiology, Centre Hospitalier Universitaire Vaudois (CHUV), Lausanne, Switzerland (C.H.-S., E.P.).
⁴ Cardiology, Arrhythmia, and Cardiac Stimulation Service, Amiens-Picardie University Hospital, Amiens, France (A.H., J.-S.H.).
⁵ Pediatric Cardiology Unit, Woman-Mother-Child Department, Centre Hospitalier Universitaire Vaudois (CHUV), Lausanne, Switzerland (S.B.-D.).
⁶ Cardiogenetic laboratory, Centre de biologie et pathologie Est, Hospices Civils de Lyon (HCL), Lyon, France (G.M., A.J.).
⁷ Department of Cardiology, Inselspital, Bern University Hospital, Bern, Switzerland (B.A.).

No abstract available

Keywords: Timothy syndrome; atrioventricular block; long QT syndrome; mexiletine; ranolazine; sudden death; ventricular fibrillation.

Conflict of interest statement

Disclosures None.