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Long-Term Follow-Up of Patients With Short QT Syndrome
Open accessAbstract
Objectives The aim of this study was to investigate the clinical characteristics and the long-term course of a large cohort of patients with short QT syndrome (SQTS). Background SQTS is a rare channelopathy characterized by an increased risk of sudden death. Data on the long-term outcome of SQTS patients are not available. Methods Fifty-three patients from the European Short QT Registry (75% males; median age: 26 years) were followed up for 64 ± 27 months. Results A familial or personal history of cardiac arrest was present in 89%. Sudden death was the clinical presentation in 32%. The average QTc was 314 ± 23 ms. A mutation in genes related to SQTS was found in 23% of the probands; most of them had a gain of function mutation in HERG (SQTS1). Twenty-four patients received an implantable cardioverter defibrillator, and 12 patients received long-term prophylaxis with hydroquinidine (HQ), which was effective in preventing the induction of ventricular arrhythmias. Patients with a HERG mutation had shorter QTc at baseline and a greater QTc prolongation after treatment with HQ. During follow-up, 2 already symptomatic patients received appropriate implantable cardioverter defibrillator shocks and 1 had syncope. Nonsustained polymorphic ventricular tachycardia was recorded in 3 patients. The event rate was 4.9% per year in the patients without antiarrhythmic therapy. No arrhythmic events occurred in patients receiving HQ. Conclusions SQTS carries a high risk of sudden death in all age groups. Symptomatic patients have a high risk of recurrent arrhythmic events. HQ is effective in preventing ventricular tachyarrhythmia induction and arrhythmic events during long-term follow-up.
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“Quinidine therapy might provide some protection against VA; however, there are insufficient data to make any recommendations (305,306).”
From 2017 ACC/AHA/HRS Guideline for the Evaluation and Management of Patients With Syncope (2017) · cites this paper as [306]
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Self-citationEpidemiology of inherited arrhythmias
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Self-citationThe Phenotypic Spectrum of a Mutation Hotspot Responsible for the Short QT Syndrome.
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Self-citationLong‐Term Follow‐Up of Patients With Short QT Syndrome: Clinical Profile and Outcome
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Self-citationImplantable defibrillators in primary prevention of genetic arrhythmias. A shocking choice?
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Self-citationImpact of Antiarrhythmic Drugs on the Outcome of Short QT Syndrome
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Self-citation
Metadata
- Authors
- Giustetto, C., Schimpf, R., Mazzanti, A., Scrocco, C., Maury, P., Anttonen, O., Probst, V., Blanc, J.-J., Sbragia, P., Dalmasso, P., Borggrefe, M., & Gaita, F.
- Affiliations
- Azienda Ospedaliero Universitaria San Giovanni Battista (IT)
- University Medical Centre Mannheim (DE)
- Hôpital Rangueil (FR)
- Päijät-Hämeen Keskussairaala (FI)
- Institut du Thorax (FR)
- Université de Bretagne Occidentale (FR)
- Hôpital Nord (FR)
- University of Turin (IT)
- Corresponding author
- Giustetto, Carla
- ORCID
- Venue
- Journal of the American College of Cardiology
- Publisher
- Elsevier BV
- Published
- 2011-08
- Volume
- 58
- Issue
- 6
- Pages
- 587-595
- ISSN
- 0735-1097 (ISSN-L)
- OpenAlex
- W2006047900
- Cited by
- 325
- References
- 25
- Citations by year
- 2026: 10 · 2025: 11 · 2024: 20 · 2023: 14 · 2022: 14 · 2021: 17 · 2020: 26 · 2019: 21 · 2018: 26 · 2017: 32 · 2016: 16 · 2015: 33 · 2014: 21 · 2013: 31 · 2012: 28
- FWCI
- 18.70
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Journal of the American College of Cardiology (publishedVersion)
- PubMed (publishedVersion)
- Institutional Research Information System University of Turin (University of Turin) (submittedVersion, other-oa)
- Funders
- Foundation Cassa di Risparmio of Asti
- 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
- short QT syndrome, sudden cardiac death, sudden cardiac arrest, gain-of-function mutations, QTc prolongation, hydroquinidine, implantable cardioverter-defibrillator, ventricular tachyarrhythmia, long-term follow-up, channelopathies, antiarrhythmic prophylaxis
- MeSH terms
- ERG1 Potassium Channel, Adolescent, Adult, Anti-Arrhythmia Agents, Arrhythmias, Cardiac, Death, Sudden, Electrocardiography, Female, Follow-Up Studies, Humans, Male, Middle Aged, Mutation, Quinidine, Syncope, Cohort Studies, Treatment Outcome, Defibrillators, Implantable, Ether-A-Go-Go Potassium Channels
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