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Meandering Pathway Leading From Genotyping to Personalized Management of Long-QT Syndrome
Author(s) -
Silvia G. Priori,
Carlo Napolitano
Publication year - 2012
Publication title -
circulation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 7.795
H-Index - 607
eISSN - 1524-4539
pISSN - 0009-7322
DOI - 10.1161/circulationaha.112.102293
Subject(s) - medicine , genotyping , long qt syndrome , genetics , qt interval , genotype , gene , biology
showed that the morphology of the ST-T–wave complexpresents a remarkably distinctive shape in each of the geneticvariants of LQTS. This study generated the view that LQTSis not 1 disease but rather represents a group of pathologiescharacterized by prolongation of cardiac repolarization thatare caused by different genes and therefore should be re-garded as distinct entities. The publication of this seminalarticle stimulated the search for genotype-phenotype correla-tions that dominated the field for the subsequent 15 years.Investigators around the world started performing genetictesting in LQTS families and describing the distinguishingclinical manifestations of patients with mutations in each ofthe 3 key genes. Among the pivotal observations that haveshaped the field is the report by Schwartz et al

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