Short QT syndrome: Clinical findings and diagnostic-therapeutic implications
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AIMS: Clinical presentation, occurrence of sudden infant death, and results of the available therapies in the largest group of patients with short QT syndrome (SQTS), studied so far, are reported. METHODS AND RESULTS: Clinical history, physical examination, electrocardiogram (ECG), exercise stress testing, electrophysiological study, morphological evaluation, genetic analysis and therapy results in 29 patients with SQTS and personal and/or familial history of cardiac arrest are reported. The median age at diagnosis was 30 years (range 4-80). In all subjects, structural heart disease was excluded. Eighteen patients were symptomatic (62%): 10 had cardiac arrest (34%) and in 8 (28%) this was the first clinical presentation. Cardiac arrest had occurred in the first months of life in two patients. Seven patients had syncope (24%); 9 (31%) had palpitations with atrial fibrillation documented even in young subjects. At ECG, patients exhibited a QT interval < or = 320 ms and QTc < or = 340 ms. Fourteen patients received an implantable cardioverter-defibrillator (ICD) and 10 hydroquinidine prophylaxis. At a median follow-up of 23 months (range 9-49), one patient received an appropriate shock from the ICD; no patient on hydroquinidine had sudden death or syncope. CONCLUSION: SQTS carries a high risk of sudden death and may be a cause of death in early infancy. ICD is the first choice therapy; hydroquinidine may be proposed in children and in the patients who refuse the implant.
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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 [858]
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- Authors
- Giustetto, C., Di Monte, F., Wolpert, C., Borggrefe, M., Schimpf, R., Sbragia, P., Leone, G., Maury, P., Anttonen, O., Haissaguerre, M., & Gaita, F.
- Affiliations
- Azienda Sanitaria Locale di Asti (IT)
- University Medical Centre Mannheim (DE)
- Hôpital Nord (FR)
- Hôpital Rangueil (FR)
- Päijät-Hämeen Keskussairaala (FI)
- Corresponding author
- Giustetto, C.
- Venue
- European Heart Journal
- Publisher
- Oxford University Press (OUP)
- Published
- 2006-09-04
- Volume
- 27
- Issue
- 20
- Pages
- 2440-2447
- ISSN
- 0195-668X (ISSN-L)
- 1522-9645
- OpenAlex
- W2050841780
- Cited by
- 339
- References
- 18
- Citations by year
- 2026: 6 · 2025: 11 · 2024: 8 · 2023: 3 · 2022: 8 · 2021: 9 · 2020: 18 · 2019: 14 · 2018: 16 · 2017: 25 · 2016: 13 · 2015: 15 · 2014: 20 · 2013: 18 · 2012: 25
- FWCI
- 18.01
- Type
- journal article
- Language
- en
- Open access
- Licence
- other-oa
- Locations
- European Heart Journal (publishedVersion)
- PubMed (publishedVersion)
- Institutional Research Information System University of Turin (University of Turin) (submittedVersion)
- HighWire Press Open Archive (submittedVersion)
- INFM-OAR (INFN Catania) (submittedVersion, other-oa)
- Topics
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiac electrophysiology and arrhythmias
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiac pacing and defibrillation studies
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiac Arrhythmias and Treatments
- Keywords
- short QT syndrome, sudden cardiac death, sudden infant death syndrome, cardiac arrest, syncope, atrial fibrillation, implantable cardioverter-defibrillator, hydroquinidine, QT interval, genetic diagnosis, electrophysiological study, exercise stress testing
- MeSH terms
- ERG1 Potassium Channel, Adolescent, Adult, Aged, Aged, 80 and over, Arrhythmias, Cardiac, Cardiac Pacing, Artificial, Child, Child, Preschool, Electrocardiography, Female, Humans, Infant, Newborn, Ion Channels, Male, Middle Aged, Mutation, Pedigree, Prospective Studies, Retrospective Studies, Sudden Infant Death, Death, Sudden, Cardiac, Defibrillators, Implantable, Disease-Free Survival, Ether-A-Go-Go Potassium Channels
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