Cited by 708Cardiac electrophysiology and arrhythmiasCardiovascular Effects of ExerciseCardiac Arrhythmias and Treatments

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Short QT Syndrome: A Familial Cause of Sudden Death

Gaita, Fiorenzo, Giustetto, Carla, Bianchi, Francesca, Wolpert, Christian, Schimpf, Rainer, Riccardi, Riccardo, Grossi, Stefano, Richiardi, Elena, Borggrefe, Martin·2003·Circulation

DOI 10.1161/01.cir.0000085071.28695.c4

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Abstract

Background— A prolonged QT interval is associated with a risk for life-threatening events. However, little is known about prognostic implications of the reverse—a short QT interval. Several members of 2 different families were referred for syncope, palpitations, and resuscitated cardiac arrest in the presence of a positive family history for sudden cardiac death. Autopsy did not reveal any structural heart disease. All patients had a constantly and uniformly short QT interval at ECG. Methods and Results— Six patients from both families were submitted to extensive noninvasive and invasive work-up, including serial resting ECGs, echocardiogram, cardiac MRI, exercise testing, Holter ECG, and signal-averaged ECG. Four of 6 patients underwent electrophysiological evaluation including programmed ventricular stimulation. In all subjects, a structural heart disease was excluded. At baseline ECG, all patients exhibited a QT interval ≤280 ms (QTc ≤300 ms). During electrophysiological study, short atrial and ventricular refractory periods were documented in all and increased ventricular vulnerability to fibrillation in 3 of 4 patients. Conclusions— The short QT syndrome is characterized by familial sudden death, short refractory periods, and inducible ventricular fibrillation. It is important to recognize this ECG pattern because it is related to a high risk of sudden death in young, otherwise healthy subjects.

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Authors: Gaita, F., Giustetto, C., Bianchi, F., Wolpert, C., Schimpf, R., Riccardi, R., Grossi, S., Richiardi, E., & Borggrefe, M.
Affiliations: From the Division of Cardiology (F.G., C.G., F.B., R.R., S.G., E.R.), Ospedale Mauriziano Umberto I, Torino, Italy; and the 1st Department of Medicine (C.W., R.S., M.B.), University Hospital Mannheim, University of Heidelberg, Mannheim, Germany.
Heidelberg University (DE)
ORCID: Giustetto, Carla
Riccardi, Riccardo
Grossi, Stefano
Borggrefe, Martin
Venue: Circulation
Publisher: Ovid Technologies (Wolters Kluwer Health)
Published: 2003-08-26
Volume: 108
Issue: 8
Pages: 965-970
ISSN: 0009-7322 (ISSN-L)
1524-4539
DOI: 10.1161/01.cir.0000085071.28695.c4
OpenAlex: W1967867484
Cited by: 708
References: 21
Citations by year: 2026: 8 · 2025: 12 · 2024: 17 · 2023: 10 · 2022: 14 · 2021: 20 · 2020: 20 · 2019: 15 · 2018: 18 · 2017: 33 · 2016: 25 · 2015: 27 · 2014: 27 · 2013: 49 · 2012: 44
FWCI: 30.09
Type: journal article
Language: en
Open access: closed
Locations: Circulation (publishedVersion)
PubMed (publishedVersion)
Institutional Research Information System University of Turin (University of Turin) (submittedVersion)
Topics: Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiac electrophysiology and arrhythmias
Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiovascular Effects of Exercise
Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiac Arrhythmias and Treatments
Keywords: short QT syndrome, short QT interval, sudden cardiac death, familial sudden death, ventricular refractory period, ventricular fibrillation, syncope, palpitations, cardiac arrest, programmed ventricular stimulation, ventricular vulnerability
MeSH terms: Adolescent, Adult, Aged, Arrhythmias, Cardiac, Atrial Fibrillation, Child, Electrocardiography, Exercise Test, Cardiac Complexes, Premature, Female, Flecainide, Heart Arrest, Humans, Male, Pedigree, Syncope, Syndrome, Sodium Channels, Electrocardiography, Ambulatory, Death, Sudden, Cardiac, Electrophysiologic Techniques, Cardiac

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Short QT Syndrome: A Familial Cause of Sudden Death

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