The DOI matches its Crossref record; 21 of the 21 references it cites were found in a registry or an index.
Short QT Syndrome: A Familial Cause of Sudden Death
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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“Invasive EPS has shown increased vulnerability to VF induction in most patients, yet the clinical significance of this finding remains unknown (305).”
From 2017 ACC/AHA/HRS Guideline for the Evaluation and Management of Patients With Syncope (2017) · cites this paper as [305]
In the citing paper
“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 [305]
In the citing paper
“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 [857]
In the citing paper
“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 [857]
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Metadata
- 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)
- Venue
- Circulation
- Published
- 2003-08-26
- Volume
- 108
- Issue
- 8
- Pages
- 965-970
- ISSN
- 0009-7322 (ISSN-L)
- 1524-4539
- 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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