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- W2026323311 abstract "Congenital long QT syndrome (LQTS) is an uncommon disorder with a prevalence of ~1:2500 in the general population. 1 Schwartz P.J. Crotti L. Pedrazzini M. et al. Prevalence of the congenital long-QT syndrome. Circulation. 2009; 120: 1761-1767 Crossref PubMed Scopus (689) Google Scholar LQTS is a disease of cardiac repolarization defined by 2 characteristics: (1) prolonged heart-rate corrected QT (QTc) interval on a resting surface electrocardiogram (ECG) and (2) the presence of torsades de pointes ventricular tachycardia and/or ventricular fibrillation with associated cardiac events. The first cases of LQTS were described 50 years ago, 2 Romano C. Gemme G. Pongiglione R. Aritmie cardiache rare dell’età pediatrica. Clin Pediatr. 1963; 45: 656-683 Google Scholar , 3 Ward O.C. A new familial cardiac syndrome in children. J Irish Med Assoc. 1964; 54: 103-106 PubMed Google Scholar and over the next 30 years several dedicated investigators worked to understand the pathological mechanisms underlying this disease. The landmark discoveries by Mark Keating’s group that rare variants in genes encoding for cardiac ion channels can act as disease-causing mutations in families with LQTS 4 Curran M.E. Splawski I. Timothy K.W. Vincent G.M. Green E.D. Keating M.T. A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome. Cell. 1995; 80: 795-803 Abstract Full Text PDF PubMed Scopus (1977) Google Scholar , 5 Wang Q. Shen J. Splawski I. et al. SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. Cell. 1995; 80: 805-811 Abstract Full Text PDF PubMed Scopus (1427) Google Scholar , 6 Wang Q. Curran M.E. Splawski I. et al. Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. Nat Genet. 1996; 12: 17-23 Crossref PubMed Scopus (1488) Google Scholar clearly defined the primary contribution of ion channel dysfunction in the pathogenesis of this disease. Furthermore, these exciting discoveries created a large amount of interest in LQTS since the phenotype-genotype relationship could be identified and connected to each other. In this case, one phenotype marker is readily assessible as a prolonged QTc interval on the surface ECG, and the genotype is a point mutation in a single well-defined gene." @default.
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- W2026323311 date "2013-10-01" @default.
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- W2026323311 title "Phenotypic characterization of a family with long QT syndrome 13: A different type of variable penetrance" @default.
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- W2026323311 doi "https://doi.org/10.1016/j.hrthm.2013.07.039" @default.
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