Genotype-Phenotype Correlation of

Adolescent Adult Aged Brugada Syndrome / genetics Electrocardiography Female Genotype Humans Male Middle Aged NAV1.5 Voltage-Gated Sodium Channel / genetics Sex Factors
Brugada syndrome ethnic groups genotype mutation sudden cardiac death

Journal

Circulation. Genomic and precision medicine
ISSN: 2574-8300
Titre abrégé: Circ Genom Precis Med
Pays: United States
ID NLM: 101714113

Informations de publication

Date de publication:
10 2021
Historique:
pubmed: 1 9 2021
medline: 15 2 2022
entrez: 31 8 2021
Statut: ppublish

Résumé

Brugada syndrome (BrS) is associated with mutations in the cardiac sodium channel gene, Survey on Arrhythmic Events in Brugada Syndrome is a survey of 10 Western and 4 Asian countries, gathering 678 patients with BrS with first arrhythmic event. Only probands were included, and The study group comprised 392 probands: 92 (23.5%) The genetic basis of BrS has a complex relationship with gender, ethnicity, and age. Probands hosting a P/LP variant tended to experience their first arrhythmic event at a younger age and to have events triggered by fever compared with patients with

Sections du résumé

BACKGROUND
Brugada syndrome (BrS) is associated with mutations in the cardiac sodium channel gene,
METHODS
Survey on Arrhythmic Events in Brugada Syndrome is a survey of 10 Western and 4 Asian countries, gathering 678 patients with BrS with first arrhythmic event. Only probands were included, and
RESULTS
The study group comprised 392 probands: 92 (23.5%)
CONCLUSIONS
The genetic basis of BrS has a complex relationship with gender, ethnicity, and age. Probands hosting a P/LP variant tended to experience their first arrhythmic event at a younger age and to have events triggered by fever compared with patients with

Identifiants

DOI: 10.1161/CIRCGEN.120.003222 PMID: 34461752
pubmed: 34461752
doi: 10.1161/CIRCGEN.120.003222
doi:

Substances chimiques

NAV1.5 Voltage-Gated Sodium Channel 0
SCN5A protein, human 0

Types de publication

Clinical Trial Comparative Study Journal Article Multicenter Study

Langues

eng

Sous-ensembles de citation

IM

Pagination

e003222

Subventions

Organisme : British Heart Foundation
ID : PG/19/58/34581
Pays : United Kingdom

Auteurs

Anat Milman (A)

Leviev Heart Institute, The Chaim Sheba Medical Center, Tel Hashomer, Israel (A. Milman).
Sackler School of Medicine, Tel Aviv University, Israel (A. Milman, A.H., B.B.).
ORCID: 0000-0002-8551-4101

Elijah R Behr (ER)

European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (E.R.B., D.C.J., A.A., J.-B.G., P.G.P., Y.M., A. Mazzanti, C.H.J., D.C., J.T.-H., S.G.P., A.A.M.W., V.P.).
Cardiovascular Clinical Academic Group, St George's, University of London & St. George's University Hospitals NHS Foundation Trust, United Kingdom (E.R.B., B.G., D.C.J.).
ORCID: 0000-0002-8551-4101

Belinda Gray (B)

Cardiovascular Clinical Academic Group, St George's, University of London & St. George's University Hospitals NHS Foundation Trust, United Kingdom (E.R.B., B.G., D.C.J.).
ORCID: 0000-0002-8551-4101

David C Johnson (DC)

European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (E.R.B., D.C.J., A.A., J.-B.G., P.G.P., Y.M., A. Mazzanti, C.H.J., D.C., J.T.-H., S.G.P., A.A.M.W., V.P.).
Cardiovascular Clinical Academic Group, St George's, University of London & St. George's University Hospitals NHS Foundation Trust, United Kingdom (E.R.B., B.G., D.C.J.).
ORCID: 0000-0002-3688-3170

Antoine Andorin (A)

European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (E.R.B., D.C.J., A.A., J.-B.G., P.G.P., Y.M., A. Mazzanti, C.H.J., D.C., J.T.-H., S.G.P., A.A.M.W., V.P.).
Service de Cardiologie, CHU de Nantes, France (A.A., J.-B.G., V.P.).
ORCID: 0000-0001-6848-5452

Aviram Hochstadt (A)

Sackler School of Medicine, Tel Aviv University, Israel (A. Milman, A.H., B.B.).
Department of Cardiology, Tel-Aviv Sourasky Medical Center, Israel (A.H.).
ORCID: 0000-0002-9404-3145

Jean-Baptiste Gourraud (JB)

European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (E.R.B., D.C.J., A.A., J.-B.G., P.G.P., Y.M., A. Mazzanti, C.H.J., D.C., J.T.-H., S.G.P., A.A.M.W., V.P.).
Service de Cardiologie, CHU de Nantes, France (A.A., J.-B.G., V.P.).
ORCID: 0000-0002-6961-2131

Shingo Maeda (S)

Heart Rhythm Center, Tokyo Medical and Dental University, Tokyo, Japan (S.M., Y.T., K.H.).

Yoshihide Takahashi (Y)

Heart Rhythm Center, Tokyo Medical and Dental University, Tokyo, Japan (S.M., Y.T., K.H.).
ORCID: 0000-0003-0335-996X

Jimmy Jm Juang (J)

Cardiovascular Center and Division of Cardiology, National Taiwan University Hospital & University College of Medicine, Taipei (J.J.M.J.).
ORCID: 0000-0003-4767-7636

Sung-Hwan Kim (SH)

Division of Cardiology, College of Medicine, The Catholic University of Korea, Seoul, Korea (S.-H.K.).

Tsukasa Kamakura (T)

Division of Arrhythmia and Electrophysiology, National Cerebral and Cardiovascular Center, Osaka, Japan (T.K., T.A., K.F.K.).
ORCID: 0000-0001-9815-7927

Takeshi Aiba (T)

Division of Arrhythmia and Electrophysiology, National Cerebral and Cardiovascular Center, Osaka, Japan (T.K., T.A., K.F.K.).
ORCID: 0000-0003-2863-9159

Pieter G Postema (PG)

European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (E.R.B., D.C.J., A.A., J.-B.G., P.G.P., Y.M., A. Mazzanti, C.H.J., D.C., J.T.-H., S.G.P., A.A.M.W., V.P.).
Amsterdam UMC, University of Amsterdam, Heart Center; Department of Clinical & Experimental Cardiology, the Netherlands (P.G.P., Y.M., A.A.M.W.).
ORCID: 0000-0003-2863-9159

Yuka Mizusawa (Y)

European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (E.R.B., D.C.J., A.A., J.-B.G., P.G.P., Y.M., A. Mazzanti, C.H.J., D.C., J.T.-H., S.G.P., A.A.M.W., V.P.).
Amsterdam UMC, University of Amsterdam, Heart Center; Department of Clinical & Experimental Cardiology, the Netherlands (P.G.P., Y.M., A.A.M.W.).
ORCID: 0000-0003-1858-0923

Isabelle Denjoy (I)

Service de Cardiologie et CNMR Maladies Cardiaques Héréditaires Rares, Hôpital Bichat & Université Paris Diderot, Sorbonne, France (I.D., A.L.).
ORCID: 0000-0003-2863-9159

Carla Giustetto (C)

Division of Cardiology, University of Torino, Department of Medical Sciences, Città della Salute e della Scienza Hospital, Italy (C.G., F.G.).
Heart Rhythm Management Centre, UZ-VUB, Brussels, Belgium (G.C., P.B.).
ORCID: 0000-0002-5102-3398

Giulio Conte (G)

ORCID: 0000-0003-2863-9159

Zhengrong Huang (Z)

Department of Cardiology, the First Affiliated Hospital of Xiamen University, Fujian, China (Z.H.).
ORCID: 0000-0003-0007-9321

Georgia Sarquella-Brugada (G)

Pediatric Arrhythmias, Electrophysiology and Sudden Death Unit Cardiology, Department Hospital Sant Joan de Déu, Barcelona - Universitat de Barcelona, Spain (G.S.-B.).

Andrea Mazzanti (A)

European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (E.R.B., D.C.J., A.A., J.-B.G., P.G.P., Y.M., A. Mazzanti, C.H.J., D.C., J.T.-H., S.G.P., A.A.M.W., V.P.).
Molecular Cardiology, Istituti Clinici Scientifici Maugeri IRCCS, Pavia, Italy (A. Mazzanti, S.G.P.).
ORCID: 0000-0002-0208-2172

Camilla H Jespersen (CH)

European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (E.R.B., D.C.J., A.A., J.-B.G., P.G.P., Y.M., A. Mazzanti, C.H.J., D.C., J.T.-H., S.G.P., A.A.M.W., V.P.).
The Heart Centre, Copenhagen University Hospital, Denmark (C.H.J., J.T.-H.).
Department of Forensic Medicine, Faculty of Medical Sciences, University of Copenhagen, Denmark (C.H.J., J.T.-H.).
ORCID: 0000-0001-9664-9637

Elena Arbelo (E)

Cardiovascular Institute, Hospital Clinic and IDIBAPS, Barcelona, Catalonia, Spain (E.A., J.B.).
ORCID: 0000-0003-0424-6393

Ramon Brugada (R)

Cardiovascular Genetics Center, University of Girona-IDIBGI, Spain (R.B.).
Medical Science Department, School of Medicine, University of Girona, Spain (R.B.).
Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), Madrid, Spain (R.B.).
ORCID: 0000-0001-6607-3032

Leonardo Calo (L)

Division of Cardiology, Policlinico Casilino, Roma, Italy (L.C.).
ORCID: 0000-0002-4752-8617

Domenico Corrado (D)

European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (E.R.B., D.C.J., A.A., J.-B.G., P.G.P., Y.M., A. Mazzanti, C.H.J., D.C., J.T.-H., S.G.P., A.A.M.W., V.P.).
Department of Cardiac, Thoracic and Vascular Sciences University of Padova, Italy (D.C.).
ORCID: 0000-0003-1487-0392

Ruben Casado-Arroyo (R)

Department of Cardiology, Erasme University Hospital, Université Libre de Bruxelles, Brussels, Belgium (R.C.-A.).
ORCID: 0000-0002-3876-6074

Giuseppe Allocca (G)

Division of Cardiology, Hospital of Peschiera del Garda, Veneto, Italy (G.A., P.D.).
ORCID: 0000-0002-2274-2131

Masahiko Takagi (M)

Division of Cardiac Arrhythmia, Kansai Medical University Medical Center, Moriguchi, Japan (M.T.).
ORCID: 0000-0001-7712-8529

Pietro Delise (P)

Division of Cardiology, Hospital of Peschiera del Garda, Veneto, Italy (G.A., P.D.).

Josep Brugada (J)

Cardiovascular Institute, Hospital Clinic and IDIBAPS, Barcelona, Catalonia, Spain (E.A., J.B.).
ORCID: 0000-0002-5662-8302

Jacob Tfelt-Hansen (J)

European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (E.R.B., D.C.J., A.A., J.-B.G., P.G.P., Y.M., A. Mazzanti, C.H.J., D.C., J.T.-H., S.G.P., A.A.M.W., V.P.).
The Heart Centre, Copenhagen University Hospital, Denmark (C.H.J., J.T.-H.).
Department of Forensic Medicine, Faculty of Medical Sciences, University of Copenhagen, Denmark (C.H.J., J.T.-H.).

Silvia G Priori (SG)

European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (E.R.B., D.C.J., A.A., J.-B.G., P.G.P., Y.M., A. Mazzanti, C.H.J., D.C., J.T.-H., S.G.P., A.A.M.W., V.P.).
Molecular Cardiology, Istituti Clinici Scientifici Maugeri IRCCS, Pavia, Italy (A. Mazzanti, S.G.P.).
ORCID: 0000-0001-6877-0288

Christian Veltmann (C)

Hannover Heart Rhythm Center, Department of Cardiology & Angiology, Hannover Medical School, Hannover, Germany (C.V.).
ORCID: 0000-0003-2863-9159

Gan-Xin Yan (GX)

Lankenau Medical Center, Wynnewood, PA (G.-X.Y.).
ORCID: 0000-0002-3118-5680

Pedro Brugada (P)

Heart Rhythm Management Centre, UZ-VUB, Brussels, Belgium (G.C., P.B.).
ORCID: 0000-0003-3172-6106

Fiorenzo Gaita (F)

Division of Cardiology, University of Torino, Department of Medical Sciences, Città della Salute e della Scienza Hospital, Italy (C.G., F.G.).

Antoine Leenhardt (A)

Service de Cardiologie et CNMR Maladies Cardiaques Héréditaires Rares, Hôpital Bichat & Université Paris Diderot, Sorbonne, France (I.D., A.L.).
ORCID: 0000-0003-2863-9159

Arthur A M Wilde (AAM)

European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (E.R.B., D.C.J., A.A., J.-B.G., P.G.P., Y.M., A. Mazzanti, C.H.J., D.C., J.T.-H., S.G.P., A.A.M.W., V.P.).
Amsterdam UMC, University of Amsterdam, Heart Center; Department of Clinical & Experimental Cardiology, the Netherlands (P.G.P., Y.M., A.A.M.W.).
ORCID: 0000-0003-2863-9159

Kengo F Kusano (KF)

Division of Arrhythmia and Electrophysiology, National Cerebral and Cardiovascular Center, Osaka, Japan (T.K., T.A., K.F.K.).

Gi-Byoung Nam (GB)

Division of Cardiology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea (G.-B.N.).
ORCID: 0000-0003-4391-5406

Kenzo Hirao (K)

Heart Rhythm Center, Tokyo Medical and Dental University, Tokyo, Japan (S.M., Y.T., K.H.).

Vincent Probst (V)

European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (E.R.B., D.C.J., A.A., J.-B.G., P.G.P., Y.M., A. Mazzanti, C.H.J., D.C., J.T.-H., S.G.P., A.A.M.W., V.P.).
Service de Cardiologie, CHU de Nantes, France (A.A., J.-B.G., V.P.).
ORCID: 0000-0003-2863-9159

Bernard Belhassen (B)

Sackler School of Medicine, Tel Aviv University, Israel (A. Milman, A.H., B.B.).
Heart Institute, Hadassah University Hospital, Jerusalem, Israel (B.B.).
ORCID: 0000-0002-7468-2054

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Classifications MeSH

questionsmedicales.fr › Personnes › Tranches d'âge › Adolescent › Genotype-Phenotype Correlation of
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Genotype-Phenotype Correlation of
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Sujet âgé › Genotype-Phenotype Correlation of
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Syndrome de Brugada › Genotype-Phenotype Correlation of
questionsmedicales.fr › Diagnostic › Techniques et procédures diagnostiques › Électrodiagnostic › Électrocardiographie › Genotype-Phenotype Correlation of
questionsmedicales.fr › Phénomènes génétiques › Génotype › Genotype-Phenotype Correlation of
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Genotype-Phenotype Correlation of
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Adulte d'âge moyen › Genotype-Phenotype Correlation of
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines de tissu nerveux › Canaux sodiques voltage-dépendants › Canal sodique voltage-dépendant NAV1.5 › Genotype-Phenotype Correlation of
questionsmedicales.fr › Environnement et santé publique › Santé publique › Facteurs épidémiologiques › Facteurs sexuels › Genotype-Phenotype Correlation of