A KCNE1 missense variant (V47I) causing exercise-induced long QT syndrome (Romano Ward)
نویسندگان
چکیده
منابع مشابه
A recessive variant of the Romano-Ward long-QT syndrome?
BACKGROUND The congenital long-QT syndrome (LQTS) is a genetically heterogeneous disease characterized by prolonged ventricular repolarization and life-threatening arrhythmias. Mutations of the KVLQT1 gene, a cardiac potassium channel, generate two allelic diseases: the Romano-Ward syndrome, inherited as a dominant trait, and the Jervell and Lange-Nielsen syndrome, inherited as an autosomal rec...
متن کاملRomano-Ward Long QT Syndrome Analysis of 23 Families
Background The Romano-Ward long-QT Syndrome (LQTS) is an autosomal dominant inherited trait characterized by prolonged QT interval on ECG, life-threatening arrhythmias, syncope, and sudden death in affected individuals. A gene responsible for this disorder has been shown to be linked to the Harvey ras-1 locus (H-ras-1) DNA marker on the short arm of chromosome 11 (llp) in 7 families. The purpos...
متن کاملKCNE1 and KCNE2 variants in Patients with Long QT Syndrome
Introduction: Long QT syndrome (LQTS) is a type of ventricular arrhythmia characterized by prolonged QT intervals on electrocardiogram or delay in ventricular repolarization and it can lead to syncope, seizure and sudden cardiac death. Here, KCNE1 and KCNE2 variants are studied among Iranian affected families with this syndrome. Materials and Methods: Fifty patients referring to Rajaei Cardiov...
متن کاملEvidence of genetic heterogeneity in Romano-Ward long QT syndrome. Analysis of 23 families.
BACKGROUND The Romano-Ward long-QT Syndrome (LQTS) is an autosomal dominant inherited trait characterized by prolonged QT interval on ECG, life-threatening arrhythmias, syncope, and sudden death in affected individuals. A gene responsible for this disorder has been shown to be linked to the Harvey ras-1 locus (H-ras-1) DNA marker on the short arm of chromosome 11 (11p) in 7 families. The purpos...
متن کاملLong QT syndrome type 8: novel CACNA1C mutations causing QT prolongation and variant phenotypes.
AIMS CACNA1C mutations have been reported to cause LQTS type 8 (LQT8; Timothy syndrome), which exhibits severe phenotypes, although the frequency of patients with LQT8 exhibiting only QT prolongation is unknown. This study aimed to elucidate the frequency of CACNA1C mutations in patients with long QT syndrome (LQTS), except those with Timothy syndrome and investigate phenotypic variants. METH...
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ژورنال
عنوان ژورنال: International Journal of Cardiology
سال: 2012
ISSN: 0167-5273
DOI: 10.1016/j.ijcard.2011.08.022