An International Multicenter Evaluation of Type 5 Long QT Syndrome: A Low Penetrant Primary Arrhythmic Condition.

Adolescent Adult Death, Sudden, Cardiac Electric Countershock Electrocardiography Female Heart Arrest / genetics Humans Long QT Syndrome / genetics Male Middle Aged Penetrance Potassium Channels, Voltage-Gated / genetics Registries
arrhythmia genetics long QT syndrome penetrance sudden cardiac death

Journal

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

Informations de publication

Date de publication:
11 02 2020
Historique:
pubmed: 17 1 2020
medline: 12 8 2020
entrez: 17 1 2020
Statut: ppublish

Résumé

Insight into type 5 long QT syndrome (LQT5) has been limited to case reports and small family series. Improved understanding of the clinical phenotype and genetic features associated with rare Patients with either presumed autosomal dominant LQT5 (N = 229) or the recessive Type 2 Jervell and Lange-Nielsen syndrome (N = 19) were enrolled from 22 genetic arrhythmia clinics and 4 registries from 9 countries. A total of 32 distinct The present study suggests that putative/confirmed loss-of-function

Sections du résumé

BACKGROUND
Insight into type 5 long QT syndrome (LQT5) has been limited to case reports and small family series. Improved understanding of the clinical phenotype and genetic features associated with rare
METHODS
Patients with either presumed autosomal dominant LQT5 (N = 229) or the recessive Type 2 Jervell and Lange-Nielsen syndrome (N = 19) were enrolled from 22 genetic arrhythmia clinics and 4 registries from 9 countries.
RESULTS
A total of 32 distinct
CONCLUSIONS
The present study suggests that putative/confirmed loss-of-function

Identifiants

DOI: 10.1161/CIRCULATIONAHA.119.043114 PMID: 31941373 PMC: PMC7035205
pubmed: 31941373
doi: 10.1161/CIRCULATIONAHA.119.043114
pmc: PMC7035205
mid: NIHMS1548649
doi:

Substances chimiques

KCNE1 protein, human 0
Potassium Channels, Voltage-Gated 0

Types de publication

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

Langues

eng

Sous-ensembles de citation

IM

Pagination

429-439

Subventions

Organisme : NHLBI NIH HHS
ID : K08 HL136839
Pays : United States
Organisme : NCATS NIH HHS
ID : UL1 TR002548
Pays : United States
Organisme : CIHR
ID : MOP-142218
Pays : Canada
Organisme : CIHR
ID : SRG-15-P09-001
Pays : Canada

Commentaires et corrections

Type : CommentIn

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Auteurs

Jason D Roberts (JD)

Section of Cardiac Electrophysiology, Division of Cardiology, Department of Medicine, Western University, London, Ontario, Canada (J.D.R., I.E.H., M.D.Y., L.J.G., P.L.-S.).

S Yukiko Asaki (SY)

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

Andrea Mazzanti (A)

Molecular Cardiology, Istituti Clinici Scientifici Maugeri, Istituto di Ricovero e Cura a Carattere Scientifico and Department of Molecular Medicine, University of Pavia, Italy (A.M., D.K., S.G.P.).
European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (A.M., I.T., L.C., A.B., D.K., B.S., C.S., Y.D.W., S.D., A.A.M.W., E.R.B., J.T.-H., J.P.K., F.D., P.J.S., E.S.-B., S.G.P.).

J Martijn Bos (JM)

Izabela Tuleta (I)

European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (A.M., I.T., L.C., A.B., D.K., B.S., C.S., Y.D.W., S.D., A.A.M.W., E.R.B., J.T.-H., J.P.K., F.D., P.J.S., E.S.-B., S.G.P.).
Department of Cardiology I (I.T.), University Hospital Muenster, Germany.

Alison R Muir (AR)

Northern Ireland Inherited Cardiac Conditions Service, Belfast City Hospital, United Kingdom (A.R.M.).

Lia Crotti (L)

European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (A.M., I.T., L.C., A.B., D.K., B.S., C.S., Y.D.W., S.D., A.A.M.W., E.R.B., J.T.-H., J.P.K., F.D., P.J.S., E.S.-B., S.G.P.).
Istituto Auxologico Italiano, IRCCS, Center for Cardiac Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics, Milan, Italy (L.C., C.S., P.J.S.).
Department of Medicine and Surgery, University of Milano-Bicocca, Italy (L.C.).
Istituto Auxologico Italiano, IRCCS, Department of Cardiovascular, Neural and Metabolic Sciences, San Luca Hospital, Milan, Italy (L.C.).

Andrew D Krahn (AD)

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

Valentina Kutyifa (V)

Clinical Cardiovascular Research Center, University of Rochester Medical Center, NY (V.K., W.Z.).

M Benjamin Shoemaker (MB)

Department of Cardiovascular Medicine, Division of Heart Rhythm Services, Department of Pediatric and Adolescent Medicine, Division of Pediatric Cardiology, Department of Molecular Pharmacology & Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, MN (M.B., J.R.G., M.J.A.).
Departments of Medicine (M.B.S., N.C., D.M.R.), Vanderbilt University Medical Center, Nashville, TN.

Christopher L Johnsrude (CL)

Division of Pediatric Cardiology, Department of Pediatrics, University of Louisville, KY (C.L.J.).

Takeshi Aiba (T)

Department of Cardiovascular Medicine, National Cerebral and Cardiovascular Center, Suita, Japan (T.A., K.S., W.S.).

Luciana Marcondes (L)

Cardiac Inherited Disease Group New Zealand, Paediatric and Congenital Cardiac Services, Starship Children's Hospital, Auckland (L.M., J.R.S.).

Anwar Baban (A)

European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (A.M., I.T., L.C., A.B., D.K., B.S., C.S., Y.D.W., S.D., A.A.M.W., E.R.B., J.T.-H., J.P.K., F.D., P.J.S., E.S.-B., S.G.P.).
Pediatric Cardiology and Cardiac Arrhythmias Complex Unit, Department of Pediatric Cardiology and Cardiac Surgery, Bambino Gesù Children's Hospital and Research Institute, Rome, Italy (A.B., F.D.).

Sharmila Udupa (S)

Children's Hospital of Eastern Ontario, Department of Pediatrics, University of Ottawa, Canada (S.U., R.M.G.).

Brynn Dechert (B)

Division of Cardiology, Department of Pediatrics, University of Michigan Children's Hospital, University of Michigan, Ann Arbor (B.D.).

Peter Fischbach (P)

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

Linda M Knight (LM)

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

Eric Vittinghoff (E)

Department of Epidemiology and Biostatistics (E.V.), University of California San Francisco.

Deni Kukavica (D)

Molecular Cardiology, Istituti Clinici Scientifici Maugeri, Istituto di Ricovero e Cura a Carattere Scientifico and Department of Molecular Medicine, University of Pavia, Italy (A.M., D.K., S.G.P.).
European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (A.M., I.T., L.C., A.B., D.K., B.S., C.S., Y.D.W., S.D., A.A.M.W., E.R.B., J.T.-H., J.P.K., F.D., P.J.S., E.S.-B., S.G.P.).

Birgit Stallmeyer (B)

European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (A.M., I.T., L.C., A.B., D.K., B.S., C.S., Y.D.W., S.D., A.A.M.W., E.R.B., J.T.-H., J.P.K., F.D., P.J.S., E.S.-B., S.G.P.).
Institute for Genetics of Heart Disease (B.S., S.D., E.S.-B.), University Hospital Muenster, Germany.

John R Giudicessi (JR)

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

Carla Spazzolini (C)

European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (A.M., I.T., L.C., A.B., D.K., B.S., C.S., Y.D.W., S.D., A.A.M.W., E.R.B., J.T.-H., J.P.K., F.D., P.J.S., E.S.-B., S.G.P.).
Istituto Auxologico Italiano, IRCCS, Center for Cardiac Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics, Milan, Italy (L.C., C.S., P.J.S.).

Keiko Shimamoto (K)

Department of Cardiovascular Medicine, National Cerebral and Cardiovascular Center, Suita, Japan (T.A., K.S., W.S.).

Rafik Tadros (R)

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

Julia Cadrin-Tourigny (J)

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

Henry J Duff (HJ)

Department of Cardiac Sciences, Libin Cardiovascular Institute of Alberta, Cumming School of Medicine, University of Calgary, Canada (H.J.D.).

Christopher S Simpson (CS)

Division of Cardiology, Queen's University, Kingston, Ontario, Canada (C.S.S.).

Thomas M Roston (TM)

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

Yanushi D Wijeyeratne (YD)

European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (A.M., I.T., L.C., A.B., D.K., B.S., C.S., Y.D.W., S.D., A.A.M.W., E.R.B., J.T.-H., J.P.K., F.D., P.J.S., E.S.-B., S.G.P.).
Cardiology Clinical Academic Group, Molecular and Clinical Sciences Research Institute, St. George's University of London, and St. George's University Hospitals NHS Foundation Trust, United Kingdom (Y.D.W., E.R.B.).

Imane El Hajjaji (I)

Section of Cardiac Electrophysiology, Division of Cardiology, Department of Medicine, Western University, London, Ontario, Canada (J.D.R., I.E.H., M.D.Y., L.J.G., P.L.-S.).

Maisoon D Yousif (MD)

Section of Cardiac Electrophysiology, Division of Cardiology, Department of Medicine, Western University, London, Ontario, Canada (J.D.R., I.E.H., M.D.Y., L.J.G., P.L.-S.).

Lorne J Gula (LJ)

Section of Cardiac Electrophysiology, Division of Cardiology, Department of Medicine, Western University, London, Ontario, Canada (J.D.R., I.E.H., M.D.Y., L.J.G., P.L.-S.).

Peter Leong-Sit (P)

Section of Cardiac Electrophysiology, Division of Cardiology, Department of Medicine, Western University, London, Ontario, Canada (J.D.R., I.E.H., M.D.Y., L.J.G., P.L.-S.).

Nikhil Chavali (N)

Departments of Medicine (M.B.S., N.C., D.M.R.), Vanderbilt University Medical Center, Nashville, TN.

Andrew P Landstrom (AP)

Department of Pediatrics, Division of Pediatric Cardiology, and Department of Cell Biology, Duke University School of Medicine, Durham, NC (A.P.L.).

Gregory M Marcus (GM)

Amsterdam University Medical Centre, location AMC, Heart Center, Department of Clinical and Experimental Cardiology, The Netherlands (G.M.M., A.A.M.W.).

Sven Dittmann (S)

European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (A.M., I.T., L.C., A.B., D.K., B.S., C.S., Y.D.W., S.D., A.A.M.W., E.R.B., J.T.-H., J.P.K., F.D., P.J.S., E.S.-B., S.G.P.).
Institute for Genetics of Heart Disease (B.S., S.D., E.S.-B.), University Hospital Muenster, Germany.

Arthur A M Wilde (AAM)

European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (A.M., I.T., L.C., A.B., D.K., B.S., C.S., Y.D.W., S.D., A.A.M.W., E.R.B., J.T.-H., J.P.K., F.D., P.J.S., E.S.-B., S.G.P.).
Amsterdam University Medical Centre, location AMC, Heart Center, Department of Clinical and Experimental Cardiology, The Netherlands (G.M.M., A.A.M.W.).

Elijah R Behr (ER)

European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (A.M., I.T., L.C., A.B., D.K., B.S., C.S., Y.D.W., S.D., A.A.M.W., E.R.B., J.T.-H., J.P.K., F.D., P.J.S., E.S.-B., S.G.P.).
Cardiology Clinical Academic Group, Molecular and Clinical Sciences Research Institute, St. George's University of London, and St. George's University Hospitals NHS Foundation Trust, United Kingdom (Y.D.W., E.R.B.).

Jacob Tfelt-Hansen (J)

European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (A.M., I.T., L.C., A.B., D.K., B.S., C.S., Y.D.W., S.D., A.A.M.W., E.R.B., J.T.-H., J.P.K., F.D., P.J.S., E.S.-B., S.G.P.).
The Department of Cardiology, The Heart Centre, Copenhagen University Hospital, Rigshospitalet, Denmark (J.T.-H.).

Melvin M Scheinman (MM)

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

Marco V Perez (MV)

Division of Cardiovascular Medicine, Stanford University School of Medicine, CA (M.V.P.).

Juan Pablo Kaski (JP)

European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (A.M., I.T., L.C., A.B., D.K., B.S., C.S., Y.D.W., S.D., A.A.M.W., E.R.B., J.T.-H., J.P.K., F.D., P.J.S., E.S.-B., S.G.P.).
Centre for Inherited Cardiovascular Diseases, Great Ormond Street Hospital and UCL Institute of Cardiovascular Science, London, United Kingdom (J.P.K.).

Robert M Gow (RM)

Children's Hospital of Eastern Ontario, Department of Pediatrics, University of Ottawa, Canada (S.U., R.M.G.).

Fabrizio Drago (F)

European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (A.M., I.T., L.C., A.B., D.K., B.S., C.S., Y.D.W., S.D., A.A.M.W., E.R.B., J.T.-H., J.P.K., F.D., P.J.S., E.S.-B., S.G.P.).
Pediatric Cardiology and Cardiac Arrhythmias Complex Unit, Department of Pediatric Cardiology and Cardiac Surgery, Bambino Gesù Children's Hospital and Research Institute, Rome, Italy (A.B., F.D.).

Peter F Aziz (PF)

Department of Pediatric Cardiology, Cleveland Clinic, OH (P.F.A.).

Dominic J Abrams (DJ)

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

Michael H Gollob (MH)

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

Jonathan R Skinner (JR)

Cardiac Inherited Disease Group New Zealand, Paediatric and Congenital Cardiac Services, Starship Children's Hospital, Auckland (L.M., J.R.S.).

Wataru Shimizu (W)

Department of Cardiovascular Medicine, National Cerebral and Cardiovascular Center, Suita, Japan (T.A., K.S., W.S.).
Department of Cardiovascular Medicine, Nippon Medical School, Tokyo, Japan (W.S.).

Elizabeth S Kaufman (ES)

The Heart and Vascular Research Center, Metro-Health Campus, Case Western Reserve University, Cleveland, OH (E.S.K.).

Dan M Roden (DM)

Departments of Medicine (M.B.S., N.C., D.M.R.), Vanderbilt University Medical Center, Nashville, TN.
Pharmacology (D.M.R.), Vanderbilt University Medical Center, Nashville, TN.
Biomedical Informatics (D.M.R.), Vanderbilt University Medical Center, Nashville, TN.

Wojciech Zareba (W)

Clinical Cardiovascular Research Center, University of Rochester Medical Center, NY (V.K., W.Z.).

Peter J Schwartz (PJ)

European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (A.M., I.T., L.C., A.B., D.K., B.S., C.S., Y.D.W., S.D., A.A.M.W., E.R.B., J.T.-H., J.P.K., F.D., P.J.S., E.S.-B., S.G.P.).
Istituto Auxologico Italiano, IRCCS, Center for Cardiac Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics, Milan, Italy (L.C., C.S., P.J.S.).

Eric Schulze-Bahr (E)

European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (A.M., I.T., L.C., A.B., D.K., B.S., C.S., Y.D.W., S.D., A.A.M.W., E.R.B., J.T.-H., J.P.K., F.D., P.J.S., E.S.-B., S.G.P.).
Institute for Genetics of Heart Disease (B.S., S.D., E.S.-B.), University Hospital Muenster, Germany.

Susan P Etheridge (SP)

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

Silvia G Priori (SG)

Molecular Cardiology, Istituti Clinici Scientifici Maugeri, Istituto di Ricovero e Cura a Carattere Scientifico and Department of Molecular Medicine, University of Pavia, Italy (A.M., D.K., S.G.P.).
European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (A.M., I.T., L.C., A.B., D.K., B.S., C.S., Y.D.W., S.D., A.A.M.W., E.R.B., J.T.-H., J.P.K., F.D., P.J.S., E.S.-B., S.G.P.).

Michael J Ackerman (MJ)

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

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Classifications MeSH

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