Empirical correlation of triggered activity and spatial and temporal re-entrant substrates with arrhythmogenicity in a murine model for Jervell and Lange-Nielsen syndrome
نویسندگان
چکیده
منابع مشابه
The Jervell and Lange-Nielsen Syndrome
Background—Data on the Jervell and Lange-Nielsen syndrome (J-LN), the long-QT syndrome (LQTS) variant associated with deafness and caused by homozygous or compound heterozygous mutations on the KCNQ1 or on the KCNE1 genes encoding the IKs current, are still based largely on case reports. Methods and Results—We analyzed data from 186 J-LN patients obtained from the literature (31%) and from indi...
متن کاملThe Jervell and Lange-Nielsen syndrome.
Deafness and electrocardiographic changes (prolongation of the Q-T interval and inversion of the T wave) with a clinical picture of syncopal attacks and sudden death, were described as a distinct syndrome by Jervell and Lange-Nielsen in 1957. The syndrome is inherited as an autosomal recessive trait. In this study, all the cases reported since 1957 and their proposed prevalence are reviewed. Th...
متن کاملNovel frameshift mutation in the KCNQ1 gene responsible for Jervell and Lange-Nielsen syndrome
Objective(s): Jervell and Lange–Nielsen syndrome is an autosomal recessive disorder caused by mutations in KCNQ1 or KCNE1 genes. The disease is characterized by sensorineural hearing loss and long QT syndrome. Methods: Here we present a 3.5-year-old female patient, an offspring of consanguineous marriage, who had a history of recurrent syncope and congenital sensorineural deafness. The patient ...
متن کاملInvasive electrophysiological study in the Jervell and Lange-Nielsen syndrome.
Repeated invasive electrophysiological studies in a 7-year-old boy with the classic Jervell and Lange-Nielsen syndrome disclosed increased ventricular refractoriness, unusual late diastolic endocardial waveforms, and the inability to induce ventricular fibrillation. Despite apparently beneficial electrophysiological responses to left stellate block, surgical left cervical sympathectomy was foll...
متن کاملHuman iPS cell models of Jervell and Lange-Nielsen syndrome
Recessive mutations in the ion channel-encoding KCNQ1 gene may cause Jervell and Lange-Nielsen syndrome (JLNS), a fatal cardiac disease leading to arrhythmia and sudden cardiac death in young patients. Mutations in KCNQ1 may also cause a milder and dominantly inherited form of the disease, long QT syndrome 1 (LQT1). However, why some mutations cause LQT1 and others cause JLNS can often not be u...
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ژورنال
عنوان ژورنال: Pflügers Archiv - European Journal of Physiology
سال: 2009
ISSN: 0031-6768,1432-2013
DOI: 10.1007/s00424-009-0671-1