An International Multicenter Evaluation of Inheritance Patterns, Arrhythmic Risks, and Underlying Mechanisms of

Calsequestrin / genetics Female Heterozygote Homozygote Humans Male Mutation, Missense Risk Factors Tachycardia, Ventricular / genetics
arrhythmias, cardiac catecholaminergic polymorphic ventricular tachycardia death, sudden, cardiac genetics

Journal

Circulation
ISSN: 1524-4539
Titre abrégé: Circulation
Pays: United States
ID NLM: 0147763

Informations de publication

Date de publication:
08 09 2020
Historique:
pubmed: 23 7 2020
medline: 1 9 2021
entrez: 23 7 2020
Statut: ppublish

Résumé

Genetic variants in calsequestrin-2 ( Genotype-phenotype segregation in 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 This international multicenter study of

Sections du résumé

BACKGROUND
Genetic variants in calsequestrin-2 (
METHODS
Genotype-phenotype segregation in
RESULTS
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
CONCLUSIONS
This international multicenter study of

Identifiants

DOI: 10.1161/CIRCULATIONAHA.120.045723 PMID: 32693635 PMC: PMC7484339
pubmed: 32693635
doi: 10.1161/CIRCULATIONAHA.120.045723
pmc: PMC7484339
mid: NIHMS1617616
doi:

Substances chimiques

CASQ2 protein, human 0
Calsequestrin 0

Types de publication

Clinical Trial Journal Article Multicenter Study Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

932-947

Subventions

Organisme : NHLBI NIH HHS
ID : R01 HL140731
Pays : United States
Organisme : NIGMS NIH HHS
ID : T32 GM007618
Pays : United States
Organisme : NHLBI NIH HHS
ID : F30 HL137329
Pays : United States
Organisme : CIHR
ID : RN380020-406814
Pays : Canada
Organisme : NHLBI NIH HHS
ID : DP2 HL123228
Pays : United States

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Auteurs

Kevin Ng (K)

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.).
Cairns Hospital, Queensland, Australia (K.N.).

Erron W Titus (EW)

Cardiovascular Research Institute (E.W.T., F.H.D., N.J.R., R.C.D.), University of California, San Francisco.

Krystien V Lieve (KV)

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.).
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.).

Thomas M Roston (TM)

Heart Rhythm Services, Division of Cardiology, Department of Medicine (T.M.R., A.D.K.), University of British Columbia, Vancouver, Canada.

Andrea Mazzanti (A)

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.).
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.).

Frederick H Deiter (FH)

Cardiovascular Research Institute (E.W.T., F.H.D., N.J.R., R.C.D.), University of California, San Francisco.

Isabelle Denjoy (I)

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.).
Service de Cardiologie et CNMR Maladies Cardiacques Héréditaires Rares, Hôpital Bichat, Paris, France (I.D., A, Maltret, A.L.).

Jodie Ingles (J)

Agnes Ginges Centre for Molecular Cardiology at Centenary Institute, The University of Sydney, Australia (J.I., C. Semsarian).

Jan Till (J)

Department of Cardiology, Royal Brompton Hospital, London, United Kingdom (J.T., F.R.I.N.).

Tomas Robyns (T)

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.).
Department of Cardiovascular Disease, University Hospitals Leuven, Belgium (T.R.).

Sean P Connors (SP)

Section of Cardiac Electrophysiology, Division of Cardiology, Department of Medicine, Memorial University, St. John's, Newfoundland and Labrador, Canada (S.P.C., S.A.D.).

Christian Steinberg (C)

Quebec Heart and Lung Center, Laval University, Quebec City, Canada (C. Steinberg).

Dominic J Abrams (DJ)

Inherited Cardiac Arrhythmia Program, Boston Children's Hospital, Harvard Medical School, MA (D.J.A.).

Benjamin Pang (B)

Arrhythmia Service, University of Ottawa Heart Institute, ON, Canada (B.P., M.S.G., J.R.).

Melvin M Scheinman (MM)

Section of Cardiac Electrophysiology, Division of Cardiology, Department of Medicine (M.M.S., R.C.D.), University of California, San Francisco.

J Martijn Bos (JM)

Departments of Cardiovascular Medicine (Division of Heart Rhythm Services), Pediatric and Adolescent Medicine (Division of Pediatric Cardiology), and Molecular Pharmacology & Experimental Therapeutics (Windland Smith Rice Sudden Death Genomics Laboratory), Mayo Clinic, Rochester, MN (J.M.B., M.J.A.).

Stephen A Duffett (SA)

Section of Cardiac Electrophysiology, Division of Cardiology, Department of Medicine, Memorial University, St. John's, Newfoundland and Labrador, Canada (S.P.C., S.A.D.).

Christian van der Werf (C)

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.).
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.).

Alice Maltret (A)

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.).
Service de Cardiologie et CNMR Maladies Cardiacques Héréditaires Rares, Hôpital Bichat, Paris, France (I.D., A, Maltret, A.L.).

Martin S Green (MS)

Arrhythmia Service, University of Ottawa Heart Institute, ON, Canada (B.P., M.S.G., J.R.).

Julie Rutberg (J)

Arrhythmia Service, University of Ottawa Heart Institute, ON, Canada (B.P., M.S.G., J.R.).

Seshadri Balaji (S)

Department of Pediatrics, Division of Cardiology, Oregon Health & Science University, Portland (S.B.).

Julia Cadrin-Tourigny (J)

Cardiovascular Genetics Center, Montreal Heart Institute, Université de Montréal, Canada (J.C.-T.).

Kate M Orland (KM)

University of Wisconsin-Madison Inherited Arrhythmia Clinic, Division of Cardiovascular Medicine, Department of Medicine (K.M.O., C.T.J., L.L.E.), University of Wisconsin-Madison.

Linda M Knight (LM)

Children's Healthcare of Atlanta, Sibley Heart Center Cardiology, GA (L.M.K., P.F.).

Caitlin Brateng (C)

Children's Hospital Colorado, University of Colorado School of Medicine, Aurora (C.B., K.K.C.).

Jeremy Wu (J)

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.).

Anthony S Tang (AS)

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.).

Allan C Skanes (AC)

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.).

Jaimie Manlucu (J)

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.).

Jeff S Healey (JS)

Population Health Research Institute, McMaster University, Hamilton, ON, Canada (J.S.H.).

Craig T January (CT)

University of Wisconsin-Madison Inherited Arrhythmia Clinic, Division of Cardiovascular Medicine, Department of Medicine (K.M.O., C.T.J., L.L.E.), University of Wisconsin-Madison.
Cellular and Molecular Arrhythmia Research Program (C.T.J., L.L.E.), University of Wisconsin-Madison.

Andrew D Krahn (AD)

Heart Rhythm Services, Division of Cardiology, Department of Medicine (T.M.R., A.D.K.), University of British Columbia, Vancouver, Canada.

Kathryn K Collins (KK)

Children's Hospital Colorado, University of Colorado School of Medicine, Aurora (C.B., K.K.C.).

Kathleen R Maginot (KR)

Department of Pediatrics, University of Wisconsin School of Medicine & Public Health, Madison (K.R.M.).

Peter Fischbach (P)

Children's Healthcare of Atlanta, Sibley Heart Center Cardiology, GA (L.M.K., P.F.).

Susan P Etheridge (SP)

Department of Pediatrics, University of Utah, and Primary Children's Hospital, Salt Lake City (S.P.E.).

Lee L Eckhardt (LL)

University of Wisconsin-Madison Inherited Arrhythmia Clinic, Division of Cardiovascular Medicine, Department of Medicine (K.M.O., C.T.J., L.L.E.), University of Wisconsin-Madison.
Cellular and Molecular Arrhythmia Research Program (C.T.J., L.L.E.), University of Wisconsin-Madison.

Robert M Hamilton (RM)

The Labatt Family Heart Centre (Department of Pediatrics) and Translational Medicine, The Hospital for Sick Children and the University of Toronto, ON, Canada (R.M.H.).

Michael J Ackerman (MJ)

Departments of Cardiovascular Medicine (Division of Heart Rhythm Services), Pediatric and Adolescent Medicine (Division of Pediatric Cardiology), and Molecular Pharmacology & Experimental Therapeutics (Windland Smith Rice Sudden Death Genomics Laboratory), Mayo Clinic, Rochester, MN (J.M.B., M.J.A.).

Ferran Rosés I Noguer (FRI)

Department of Cardiology, Royal Brompton Hospital, London, United Kingdom (J.T., F.R.I.N.).

Christopher Semsarian (C)

Agnes Ginges Centre for Molecular Cardiology at Centenary Institute, The University of Sydney, Australia (J.I., C. Semsarian).

Natalia Jura (N)

Department of Cellular and Molecular Pharmacology (N.J.), University of California, San Francisco.

Antoine Leenhardt (A)

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.).
Service de Cardiologie et CNMR Maladies Cardiacques Héréditaires Rares, Hôpital Bichat, Paris, France (I.D., A, Maltret, A.L.).

Michael H Gollob (MH)

Department of Physiology and Department of Medicine, Toronto General Hospital, University of Toronto, ON, Canada (M.H.G.).

Silvia G Priori (SG)

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.).
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.).

Shubhayan Sanatani (S)

Department of Pediatrics, Children's Heart Centre, BC Children's Hospital (S.S.), University of British Columbia, Vancouver, Canada.

Arthur A M Wilde (AAM)

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.).
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.).

Rahul C Deo (RC)

Cardiovascular Research Institute (E.W.T., F.H.D., N.J.R., R.C.D.), University of California, San Francisco.
Section of Cardiac Electrophysiology, Division of Cardiology, Department of Medicine (M.M.S., R.C.D.), University of California, San Francisco.
One Brave Idea and Division of Cardiovascular Medicine, Brigham and Women's Hospital, Boston, MA (R.C.D.).
Harvard Medical School, Harvard University, Boston, MA (R.C.D.).

Jason D Roberts (JD)

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.).

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Classifications MeSH

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