Mutations in Cytoplasmic Loops of the KCNQ1 Channel and the Risk of Life- Threatening Events: Implications for Mutation-Specific Response to Beta- Blocker Therapy in Type-1 Long QT Syndrome Running title: Barsheshet et al.; Mutations in Cytoplasmic Loops of KCNQ1 Channel
نویسندگان
چکیده
Cardiology Division, University of Rochester Medical Center, Rochester, NY; Cardiovascular Rsrch Inst, University of Rochester School of Medicine & Dentistry, Rochester, NY; Gentofte University Hospital, Copenhagen, Denmark; National Cardiovascular Center, Suita, Japan; Dept of Cardiology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands; Dept of Biostatistics & Computational Biology, University of Rochester Medical Center, Rochester, NY; Dept of Pediatrics, Division of Pediatric Cardiology, Mayo Clinic, Rochester, MN; Nephrology Division, University of Rochester Medical Center, Rochester, NY; Dept of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands; 10 The Heart & Vascular Rsrch Ctr, MetroHealth Campus, Case Western Reserve University, Cleveland, OH; Dept of Cardiology, Lund University, Lund, Sweden; Dept of Pathology, University of Rochester School of Medicine & Dentistry, Rochester, NY; Dept of Pediatrics, Baylor College of Medicine, Texas Children’s Hospital, Houston, TX; 14 Dept of Medicine University of Utah School of Medicine, Salt Lake City, UT
منابع مشابه
Mutations in cytoplasmic loops of the KCNQ1 channel and the risk of life-threatening events: implications for mutation-specific response to β-blocker therapy in type 1 long-QT syndrome.
BACKGROUND β-Adrenergic stimulation is the main trigger for cardiac events in type 1 long-QT syndrome (LQT1). We evaluated a possible association between ion channel response to β-adrenergic stimulation and clinical response to β-blocker therapy according to mutation location. METHODS AND RESULTS The study sample comprised 860 patients with genetically confirmed mutations in the KCNQ1 channel...
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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 ...
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Congenital long QT syndrome (LQTS) is an inherited cardiac channelopathy characterized by prolongation of the QT interval on electrocardiogram (ECG), and is associated with an increased risk of life-threatening ventricular arrhythmias. Mutations in over a dozen distinct genes have been implicated in the pathogenesis of this group of disorders. LQTS type 1 (LQT1), the most prevalent LQTS subtype...
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The slow IKS K+ channel plays a major role in repolarizing the cardiac action potential and consists of the assembly of KCNQ1 and KCNE1 subunits. Mutations in either KCNQ1 or KCNE1 genes produce the long-QT syndrome, a life-threatening ventricular arrhythmia. Here, we show that long-QT mutations located in the KCNQ1 C terminus impair calmodulin (CaM) binding, which affects both channel gating a...
متن کاملCongenital long QT syndrome
Congenital long QT syndrome (LQTS) is a hereditary cardiac disease characterized by a prolongation of the QT interval at basal ECG and by a high risk of life-threatening arrhythmias. Disease prevalence is estimated at close to 1 in 2,500 live births. The two cardinal manifestations of LQTS are syncopal episodes, that may lead to cardiac arrest and sudden cardiac death, and electrocardiographic ...
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