Circulation · 2003 · 708 citations · 17 references
MedicineCardiologyInternal MedicineClinical CardiologyElectrophysiologyStructural Heart DiseaseAtrial ElectrophysiologyAtrial FibrillationCardiac ArrhythmiasCardiac Risk AssessmentElectrocardiographyInherited Arrhythmia SyndromesElectrophysiological PhenotypingElectrophysiological StudyFamilial Sudden DeathHolter Electrocardiogram AnalysisLife-threatening ArrhythmiasQt Interval AnalysisQt Interval AssessmentSudden Cardiac Death Predisposition
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 <or=280 ms (QTc <or=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.
17
Genotype-Phenotype Correlation in the Long-QT Syndrome
Peter J. Schwartz, Silvia G. Priori, Carla Spazzolini et al. · Circulation · 2001 · 1.8K citations
Life Sciences, Cardiology, Genetics +10
KCNQ1 Gain-of-Function Mutation in Familial Atrial Fibrillation
Yi-Han Chen, Shi-Jie Xu, Saı̈d Bendahhou et al. · Science · 2003 · 1K citations
Medicine, Cardiology, Genetics +17
A NEW FAMILIAL CARDIAC SYNDROME IN CHILDREN.
Ward Oc · PubMed · 1964 · 832 citations
Medicine, Cardiology, Pediatrics +10