The congenital long QT syndromes from genotype to phenotype: clinical implications.
DOI: 10.1111/J.1365-2796.2005.01583.X
关键词: Endocrinology 、 Genotype 、 Phenotype 、 Genetic heterogeneity 、 Medicine 、 Genetic disorder 、 QT interval 、 Internal medicine 、 Bioinformatics 、 Long QT syndrome 、 Heart disease 、 Sudden death
摘要: The long QT syndrome (LQTS) is a genetic disorder responsible for many sudden deaths before age 20. identification of several LQTS genes, all encoding cardiac ion channels, has had major impact on the management strategy both patients and family members. Genotype-guided therapy allows more effective individually tailored therapy. Therapeutic options, including beta-blockers, left sympathetic denervation, implantable defibrillators are discussed known unknown genotype. recent modifier genes which amplify effect an mutation may change approach to risk stratification.
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