“…14,15 Initial descriptions of congenital LQTS with or without congenital deafness have grown into 12 individual subtypes (Table 3), with an estimated prevalence of 1:2000. 16,17 More than 95% of cases represent abnormalities in the rectifier potassium channels (I Kr , I Ks ) or inward sodium channels corresponding to LQT types 1 to 3.…”
Section: Long-qt Syndrome Presentation and Diagnosismentioning
“…14,15 Initial descriptions of congenital LQTS with or without congenital deafness have grown into 12 individual subtypes (Table 3), with an estimated prevalence of 1:2000. 16,17 More than 95% of cases represent abnormalities in the rectifier potassium channels (I Kr , I Ks ) or inward sodium channels corresponding to LQT types 1 to 3.…”
Section: Long-qt Syndrome Presentation and Diagnosismentioning
“…The largest data set of LQTS patients in whom the efficacy of b-blockers has been assessed comes from the International Registry for LQTS [23] and included 869 patients, of whom 69% were symptomatic [24]. Mortality in this large group was 2%.…”
The long QT syndrome (LQTS) is a genetic disorder responsible for many sudden deaths before age 20. The identification of several LQTS genes, all encoding cardiac ion channels, has had a major impact on the management strategy for both patients and family members. Genotype-guided therapy allows more effective individually tailored therapy. Therapeutic options, including b-blockers, left cardiac sympathetic denervation, and implantable defibrillators are discussed for patients of known and of unknown genotype. The recent identification of modifier genes which amplify the effect of an LQTS mutation may change the approach to risk stratification.
“…The majority of LQT2-associated missense mutations cause protein trafficking defects (5). There has therefore been considerable interest in understanding the mechanisms by which missense mutations result in reduced Kv11.1 trafficking, not just to gain insights into clinical genotype-phenotype relationships (6) but also to further understand the mechanisms of channel folding and assembly.…”
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