Sudden death associated with short-QT syndrome linked to mutations in HERG
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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AF prevalence in short QT syndrome is up to 70%.
“Short QT syndrome KCNH2 KCNQ1 KCNJ2 CACNA1C CACNB2b IKr IKs IK1 ICa ICa Up to 70% 853, 856-858”
From 2016 ESC Guidelines for the management of atrial fibrillation developed in collaboration with EACTS (2016) · cites this paper as [856]
AF prevalence ranges from 5% to 20% in patients with long QT syndrome or Brugada syndrome, and is up to 70% in short QT syndrome.
“AF prevalence ranges from 5% to 20% in patients with long QT syndrome or Brugada syndrome, and is up to 70% in short QT syndrome (Table 20).853,[856][857][858]”
From 2016 ESC Guidelines for the management of atrial fibrillation developed in collaboration with EACTS (2016) · cites this paper as [856]
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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
- Venue
- Circulation
- Published
- 2004-01-06
- Volume
- 109
- Issue
- 1
- Pages
- 30-35
- ISSN
- 0009-7322 (ISSN-L)
- 1524-4539
- 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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