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Genotype-Phenotype Correlation in the Long-QT Syndrome: Gene-Specific Triggers for Life-Threatening Arrhythmias
TLDR
Life-threatening arrhythmias in LQTS patients tend to occur under specific circumstances in a gene-specific manner, allowing new insights into the mechanisms that relate the electrophysiological consequences of mutations on specific genes to clinical manifestations and offer the possibility of complementing traditional therapy with gene- specific approaches.
Spectrum of Mutations in Long-QT Syndrome Genes: KVLQT1, HERG, SCN5A, KCNE1, and KCNE2
TLDR
KVLQT1 and HERG accounted for 87% of identified mutations, and SCN5A, KCNE1, and KCNE2 accounted for the other 13%, and Missense mutations were most common, followed by frameshift mutations, in-frame deletions, and nonsense and splice-site mutations.
Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias
Genetic factors contribute to the risk of sudden death from cardiac arrhythmias. Here, positional cloning methods establish KVLQT1 as the chromosome 11-linked LQT1 gene responsible for the most
Task Force on Sudden Cardiac Death of the European Society of Cardiology.
TLDR
The members of the Task Force on Sudden Death dedicate this paper to the memory of their former friend and colleague, Professor Ronald W. F. Campbell, who spent his life working in the field of sudden cardiac death, and the extent of the expanding knowledge in this field is described.
Diagnostic Criteria for the Long QT Syndrome An Update
TLDR
The availability of effective therapy for this often lethal disease emphasizes the importance of early and accurate diagnosis, and there is frequently a delay in the diagnosis of LQTS, and patients with syncope are often misdiagnosed.
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