Cited by 848Cardiac electrophysiology and arrhythmiasIon channel regulation and functionCardiovascular Effects of Exercise

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Sudden Death Associated With Short-QT Syndrome Linked to Mutations in HERG

Brugada, Ramon, Hong, Kui, Dumaine, Robert, Cordeiro, Jonathan, Gaita, Fiorenzo, Borggrefe, Martin, Menendez, Teresa M., Brugada, Josep, Pollevick, Guido D., Wolpert, Christian, Burashnikov, Elena, Matsuo, Kiyotaka, Sheng Wu, Yue, Guerchicoff, Alejandra, Bianchi, Francesca, Giustetto, Carla, Schimpf, Rainer, Brugada, Pedro, Antzelevitch, Charles·2004·Circulation

DOI 10.1161/01.cir.0000109482.92774.3a

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Abstract

BACKGROUND: Sudden cardiac death takes the lives of more than 300 000 Americans annually. Malignant ventricular arrhythmias occurring in individuals with structurally normal hearts account for a subgroup of these sudden deaths. The present study describes the genetic basis for a new clinical entity characterized by sudden death and short-QT intervals in the ECG. METHODS AND RESULTS: Three families with hereditary short-QT syndrome and a high incidence of ventricular arrhythmias and sudden cardiac death were studied. In 2 of them, we identified 2 different missense mutations resulting in the same amino acid change (N588K) in the S5-P loop region of the cardiac IKr channel HERG (KCNH2). The mutations dramatically increase IKr, leading to heterogeneous abbreviation of action potential duration and refractoriness, and reduce the affinity of the channels to IKr blockers. CONCLUSIONS: We demonstrate a novel genetic and biophysical mechanism responsible for sudden death in infants, children, and young adults caused by mutations in KCNH2. The occurrence of sudden cardiac death in the first 12 months of life in 2 patients suggests the possibility of a link between KCNH2 gain of function mutations and sudden infant death syndrome. KCNH2 is the binding target for a wide spectrum of cardiac and noncardiac pharmacological compounds. Our findings may provide better understanding of drug interaction with KCNH2 and have implications for diagnosis and therapy of this and other arrhythmogenic diseases.

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Sudden cardiac death
Zipes, D. P., & Wellens, H. J. J. (1998) · Circulation · doi:10.1161/01.cir.98.21.2334 · Cited by 2,744
A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome
Curran, M. E., Splawski, I., Timothy, K. W., Vincent, G. M., Green, E. D., & Keating, M. T. (1995) · Cell · doi:10.1016/0092-8674(95)90358-5 · Cited by 2,253
Genetic basis and molecular mechanism for idiopathic ventricular fibrillation
Chen, Q., Kirsch, G. E., Zhang, D., Brugada, R., Brugada, J., Brugada, P., Potenza, D. R., Moya‐Mitjans, À., Borggrefe, M., BREITHARDT, G. E., et al. (1998) · Nature · doi:10.1038/32675 · Cited by 1,823
Two components of cardiac delayed rectifier K+ current. Differential sensitivity to block by class III antiarrhythmic agents.
Sanguinetti, M. C., & Jurkiewicz, N. K. (1990) · The Journal of General Physiology · doi:10.1085/jgp.96.1.195 · Cited by 1,462
KCNQ1 Gain-of-Function Mutation in Familial Atrial Fibrillation
Chen, Y.-H., Xu, S.-J., Bendahhou, S., Wang, X.-L., Wang, Y., Xu, W.-Y., Jin, H., Sun, H., Su, X.-Y., Zhuang, Q.-N., et al. (2003) · Science · doi:10.1126/science.1077771 · Cited by 989
Short QT Syndrome: A Familial Cause of Sudden Death
Gaita, F., Giustetto, C., Bianchi, F., Wolpert, C., Schimpf, R., Riccardi, R., Grossi, S., Richiardi, E., & Borggrefe, M. (2003) · Circulation · doi:10.1161/01.cir.0000085071.28695.c4 · Cited by 708
Self-citation
Idiopathic Short QT Interval:A New Clinical Syndrome?
Gussak, I. B., Brugada, P., Brugada, J., Wright, R. S., Kopecky, S. L., CHAITMAN, B. R., & Bjerregaard, P. (2000) · Cardiology · doi:10.1159/000047299 · Cited by 669
Multiple Mechanisms in the Long-QT Syndrome
Roden, D. M., Lazzara, R., Rosen, M. R., Schwartz, P. J., Towbin, J. A., & Vincent, G. M. (1996) · Circulation · doi:10.1161/01.cir.94.8.1996 · Cited by 631
NovelSCN5AMutation Leading Either to Isolated Cardiac Conduction Defect or Brugada Syndrome in a Large French Family
Kyndt, F., Probst, V., Potet, F., Demolombe, S., Chevallier, J.-C., Baró, I., Moisan, J., Boisseau, P., Schott, J., Escande, D., et al. (2001) · Circulation · doi:10.1161/hc5001.100834 · Cited by 363
HERG, a Primary Human Ventricular Target of the Nonsedating Antihistamine Terfenadine
Roy, M. L., Dumaine, R., & Brown, A. M. (1996) · Circulation · doi:10.1161/01.cir.94.4.817 · Cited by 302

Show all 27 references

Research works printed but not linked: 8

10.1161/circ.98.21.2334 · DOI
10.1161/circ.94.8.1996 · DOI
10.1161/circ.104.25.3081 · DOI
1998, J Pharmacol Exp Ther, 286, 727
10.1161/circ.94.4.817 · DOI
2000, Mol Pharmacol, 57, 367
10.1161/res.82.3.386 · DOI
10.1161/res.87.11.1012 · DOI

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[Intermittent short QT interval in a patient with sudden cardiac death].
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Martinez-Barrios, E., Cruzalegui, J. C., César, S., Chipa, F., Arbelo, E., Fiol, V., Brugada, J., Sarquella‐Brugada, G., & Campuzano, Ó. (2022) · IntechOpen eBooks · doi:10.5772/intechopen.106808 · Cited by 1
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Crotti, L., Insolia, R., & Schwartz, P. J. (2011) · Cardiac Electrophysiology Clinics · doi:10.1016/j.ccep.2010.10.008 · Cited by 1
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Evaluation and Management of Arrhythmias in the Pediatric Population
Vetter, V. L., & Rhodes, L. A. (2012) · Elsevier eBooks · doi:10.1016/b978-1-4377-0285-9.00077-6 · Cited by 1
Prevalence of Genetic Variants Associated with Sudden Cardiac Death in a Population Sample in Colombia
Ariza, J. A., Rocha, A. H. M., Cabrera-Pérez, R., & Bermúdez-Santana, C. I. (2023) · doi:10.47275/2332-4864-126
Dysrhythmias/Channelopathies and Signaling Pathways
Marı́n-Garcı́a, J. (2011) · Springer eBooks · doi:10.1007/978-1-4419-9461-5_17 · Cited by 1
The Role of Genotyping in Diagnosing Cardiac Channelopathies
Vincent, G. M., & Zhang, L. (2005) · Molecular Diagnosis · doi:10.1007/bf03260079 · Cited by 1
Syncope in a Patient with a Short QT Interval
Giustetto, C., & Gaita, F. (2006) · Syncope Cases · doi:10.1002/9780470995013.ch62 · Cited by 1
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Brugada, R. (2008) · doi:10.1002/9780470696354.ch3 · Cited by 1
Cardiac Safety of Noncardiac Drugs
Lipicky, R. J. (2007) · Humana Press eBooks · doi:10.1007/978-1-59259-884-7_1 · Cited by 1
Le syndrome du QT court
Maury, P., Extramiana, F., Sbragia, P., Giustetto, C., Schimpf, R., Duparc, A., Wolpert, C., Denjoy, I., Delay, M., Borggrefe, M. M., et al. (2008) · Archives des Maladies du Coeur et des Vaisseaux - Pratique · doi:10.1016/s1261-694x(08)70573-x · Cited by 1
Short QT Syndromes.
Gaita, F., Giustetto, C., & Mazzanti, A. (2010) · Cardiac Electrophysiology Clinics · doi:10.1016/j.ccep.2010.09.004 · Cited by 4
Seven Reflections on a First Episode of Lone Atrial Fibrillation
Farré, J. (2006) · Revista Española de Cardiología (English Edition) · doi:10.1016/s1885-5857(07)60056-5 · Cited by 1
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Escudero, J. B., Parajon, J. R., Moreno, G., & Serrano, C. M. (2005) · Medicine - Programa de Formación Médica Continuada Acreditado · doi:10.1016/s0211-3449(05)73730-9 · Cited by 1
T-vector and T-loop morphology analysis of ventricular repolarization in ischemic heart disease
Rubulis, A. (2007) · Figshare · Cited by 1
Epicardial activation increases transmural dispersion of repolarization in a heterogeneous model of wild-type and short QT mutant tissue
Weiss, D. L., Seemann, G., Sachse, F. B., & Dössel, O. (2005) · Computers in cardiology · doi:10.1109/cic.2005.1588048 · Cited by 1
The Routine ECG as a Marker of Sudden Cardiac Death
AMBROGGI, L. D. (2007) · Springer eBooks · doi:10.1007/978-88-470-0636-2_45 · Cited by 1
Autopsia molecolare nella morte improvvisa
Carturan, E., Basso, C., & Thiene, G. (2007) · Giornale italiano di cardiologia · doi:10.1714/689.7963 · Cited by 1
Surgeons With the American Association for Thoracic Surgery and Society of Thoracic Developed in Collaboration Cardiac Pacemakers and Antiarrhythmia Devices) Revise the ACC/AHA/NASPE 2002 Guideline Update for Implantation of Heart Association Task Force on Practice Guidelines (Writing Committee to Abnormalities: A Report of the American College of Cardiology/American ACC/AHA/HRS 2008 Guidelines for Device-Based Therapy of Cardiac Rhythm
Sweeney, M. O., Schoenfeld, M. H., Silka, M. J., Stevenson, L. W., Hammill, S. C., Hayes, D. L., Hlatky, M. A., Newby, L. K., Freedman, A. L., Gettes, L. S., et al. (2011) · Cited by 1
Traitement médical des troubles du rythme
Dinanian, S. (2006) · EMC - Cardiologie · doi:10.1016/s1166-4568(05)10614-7 · Cited by 1
Genetics of inherited arrhythmias in children.
Shah, M. J. (2008) · PubMed Central · Cited by 1
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Maragna, R., Mazzanti, A., & Priori, S. (2017) · Encyclopedia of Life Sciences · doi:10.1002/9780470015902.a0024386 · Cited by 3
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Zeghichi, S. (2009) · OpenGrey (Institut de l'Information Scientifique et Technique) · Cited by 1
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Scheinman, M. M., & Keung, E. C. (2005) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2005.01.001 · Cited by 1
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Adler, A., & Gollob, M. H. (2017) · Elsevier eBooks · doi:10.1016/b978-0-12-809657-4.99760-6 · Cited by 1
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Schimpf, R., & Borggrefe, M. (2015) · Springer eBooks · doi:10.1007/978-3-642-54676-1_178-1
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Gwanyanya, A. (2008) · Lirias
Ventricular arrhythmias at risk of sudden cardiac death in young athletes. Non invasive cardiac examinations during preparticipation screening for sport eligibility.
Steriotis, A. K. (2011) · Padua Research Archive (University of Padova)
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Darbar, D., Kannankeril, P. J., & Roden, D. M. (2009) · Wiley eBooks · doi:10.1002/9781444309768.ch44
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Brian, P. (2012) · InTech eBooks · doi:10.5772/37980
Nachsorge von Patienten nach malignen Arrhythmien
Muller, D. W. (2011) · Notfall + Rettungsmedizin · doi:10.1007/s10049-010-1387-7
Myocardial K+Channels: Primary Determinants of Action Potential Repolarization
Niwa, N., & Nerbonne, J. M. (2009) · doi:10.1002/9780470561416.ch2
Immunzytochemischer Nachweis von ether-à-go-go-related-gene Kaliumkanaluntereinheiten in nativem Gewebe und heterologen Expressionssystemen
Stamm, N. (2011)
Genetic and Functional Studies of Severe Ventricular Arrhythmias
Fodstad, H. (2005) · Työväentutkimus Vuosikirja
Mort subite et complexes moléculaires des canaux ioniques cardiaques
Amarouch, M. (2010)
Short QT: The Novel Gaita Syndrome?
Gaïta, F., Giustetto, C., Monte, F. D., Schimpf, R., Wolpert, C., & Borggrefe, M. (2005) · Springer eBooks · doi:10.1007/88-470-0341-5_30
ICD Therapy for Short QT Syndrome: The Risk of Inappropriate Shocks and How to Avoid Them
Borggrefe, M., Wolpert, C., Giustetto, C., Gaïta, F., Bauersfeld, U., & Schimpf, R. (2006) · Springer eBooks · doi:10.1007/88-470-0371-7_41
K+ Channelopathies (IKs, IKr, and Ito)
Sampson, K. J., & Kass, R. S. (2013) · Springer eBooks · doi:10.1007/978-1-4471-4881-4_14
Genetics of inherited arrhythmias in children.
Shah, M. J. (2008) · PubMed Central

Authors: Brugada, R., Hong, K., Dumaine, R., Cordeiro, J., Gaita, F., Borggrefe, M., Menendez, T. M., Brugada, J., Pollevick, G. D., Wolpert, C., Burashnikov, E., Matsuo, K., Sheng Wu, Y., Guerchicoff, A., Bianchi, F., Giustetto, C., Schimpf, R., Brugada, P., & Antzelevitch, C.
Affiliations: From the Molecular Genetics (R.B., K.H., G.D.P., E.B., K.M., A.G.), Molecular Biology (R.D., Y.S.W.), and Experimental Cardiology (J.C., C.A.) Programs, Masonic Medical Research Laboratory, Utica, NY; Division of Cardiology (F.G., F.B., C.G.), Ospedale Mauriziano Umberto I, Torino, Italy; First Department of Medicine (M.B., C.W., R.S.), University Hospital Mannheim, University of Heidelberg, Mannheim, Germany; North Texas Heart Center (T.M.M.), Dallas, Tex; Arrhythmia Section (J.B.), Cardiovascular...
Heidelberg University (DE)
ORCID: Hong, Kui
Dumaine, Robert
Cordeiro, Jonathan
Borggrefe, Martin
Guerchicoff, Alejandra
Giustetto, Carla
Brugada, Pedro
Antzelevitch, Charles
Venue: Circulation
Publisher: Ovid Technologies (Wolters Kluwer Health)
Published: 2004-01-06
Volume: 109
Issue: 1
Pages: 30-35
ISSN: 0009-7322 (ISSN-L)
1524-4539
DOI: 10.1161/01.cir.0000109482.92774.3a
OpenAlex: W2129393568
Cited by: 847
References: 27
Citations by year: 2026: 6 · 2025: 15 · 2024: 22 · 2023: 16 · 2022: 14 · 2021: 25 · 2020: 31 · 2019: 22 · 2018: 29 · 2017: 48 · 2016: 29 · 2015: 28 · 2014: 35 · 2013: 48 · 2012: 58
FWCI: 31.40
Type: journal article
Language: en
Open access: closed
Locations: Circulation (publishedVersion)
PubMed (publishedVersion)
Institutional Research Information System University of Turin (University of Turin) (submittedVersion)
VUBIR (Vrije Universiteit Brussel) (submittedVersion)
Topics: Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiac electrophysiology and arrhythmias
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Ion channel regulation and function
Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiovascular Effects of Exercise
Keywords: sudden cardiac death, short QT syndrome, hERG, KCNH2, gain-of-function mutations, ventricular arrhythmias, action potential duration, sudden infant death syndrome, drug interactions, hereditary arrhythmia
MeSH terms: ERG1 Potassium Channel, Adult, Arrhythmias, Cardiac, Cell Line, Electrocardiography, Female, Humans, Infant, Ion Channels, Male, Middle Aged, Syndrome, Death, Sudden, Cardiac, Genetic Heterogeneity, Mutation, Missense, Potassium Channels, Voltage-Gated, Ether-A-Go-Go Potassium Channels

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Sudden Death Associated With Short-QT Syndrome Linked to Mutations in HERG

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