Autosomal Recessive Catecholamine- or Exercise-Induced Polymorphic Ventricular Tachycardia
- 12 June 2001
- journal article
- other
- Published by Wolters Kluwer Health in Circulation
- Vol. 103 (23) , 2822-2827
- https://doi.org/10.1161/01.cir.103.23.2822
Abstract
Background—Catecholaminergic polymorphic ventricular tachycardia (PVT) is characterized by episodes of syncope, seizures, or sudden death in response to physiological or emotional stress. In 2 families with autosomal dominant inheritance, the disease gene was mapped to chromosome 1q42-43. The objectives of this study were to characterize the clinical features of the disease in a Bedouin tribe from Israel and to map the disease gene. Methods and Results—In this Bedouin tribe, 9 children (age, 7±4 years) from 7 related families have died suddenly during the past decade, and 12 other children suffered from recurrent syncope and seizures starting at the age of 6±3 years. Parents of affected individuals were asymptomatic and were all related (first-, second-, or third-degree cousins). Segregation analysis suggested autosomal recessive inheritance. All 12 symptomatic patients and 1 asymptomatic sibling (mean age, 13±7 years) were found to have a relative resting bradycardia (64±13 bpm, versus 93±12 bpm in the u...Keywords
This publication has 11 references indexed in Scilit:
- Gene Structures and Expression Profiles of Three Human KCND (Kv4) Potassium Channels Mediating A-Type Currents ITO and ISAGenomics, 2000
- Arrhythmic disorder mapped to chromosome 1q42–q43 causes malignant polymorphic ventricular tachycardia in structurally normal heartsJournal of the American College of Cardiology, 1999
- Identification of a Specific Role for the Na,K-ATPase α2 Isoform as a Regulator of Calcium in the HeartMolecular Cell, 1999
- Genetic and molecular basis of cardiac arrhythmias Impact on clinical managementPublished by Oxford University Press (OUP) ,1999
- A physiological role of the adenosine A 3 receptor: Sustained cardioprotectionProceedings of the National Academy of Sciences, 1998
- Localization of the A3 adenosine receptor gene (ADORA3) to human chromosome 1pGenomics, 1995
- Evidence of Genetic Heterogeneity in the Long QT SyndromeScience, 1993
- Alteration of α1 Na + ,k + -ATPase 86 Rb + Influx by a Single Amino Acid SubstitutionScience, 1990
- Strategies for multilocus linkage analysis in humans.Proceedings of the National Academy of Sciences, 1984
- Bidirectional tachycardia in a child. A study using His bundle electrography.Heart, 1975