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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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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