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LQT1Long QT Syndrome Type 1
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References in periodicals archive ?
Based on known triggering stimuli, patients with LQT1 are advised to avoid strenuous exercise (particularly swimming and competitive sports), patients with LQT2 should try to avoid unexpected auditory stimuli, whereas patients with LQT3 may be advised to be monitored or accompanied while sleeping (21).
The highest incidence of all LQT syndromes is accredited to LQT1. It is characterized by clinical symptoms like adrenergic-induced torsade de pointes tachycardia, syncope, and effectiveness of [beta]-adrenergic antagonistic "[beta]-blocker" treatment.
The researchers used the animal model to identify differential conditions and cellular mechanisms that trigger arrhythmia in LQT1 or in LQT2 syndrome.
Mutations in the K+ channel genes KVLQT1 or KCNQ1, on chromosome 11 result in LQT1 (about 40-55% of cases).
Long QT and Jervelle Lange-Nielsen syndromes: Genetic defects and channel abnormalities Syndrome Gene Function Autosomal dominant LQT1 KCNQ1 [I.sub.ks] Decreased LQT2 KCNH2 [I.sub.Kr] Decreased LQT3 SCN5A [I.sub.Na] Decreased LQT4 ANK2 [I.sub.Na, K] Decreased LQT5 KCNE1 [I.sub.ks] Decreased LQT6 KCNE2 [I.sub.kr] Decreased LQT7 KCNJ2 [I.sub.k1] Decreased LQT8 CACNA1C [I.sub.Ca,L] Increased LQT9 CAV3 [I.sub.Na] Increased LQT10 SCN4B [I.sub.Na] Increased Autosomal recessive JLN1 KCNQ1 [I.sub.ks] Decreased JLN2 KCNE1 [I.sub.ks] Decreased Cardiac sodium ([I.sub.Na]), Potassium ([I.sub.ks], [I.sub.Kr], [I.sub.k1]) and Calcium currents
The majority of mutations have been identified in LQT1 (40%-55%), LQT2 (35%-45%), and LQT3 (2%-8%), which represent the genes KCNQ1, KCNH2, and SCN5A, respectively.
There were four post partum: three among 46 women with the LQT2 genotype, compared with just one of 101 LQT1 women.
The first gene for autosomal-dominant LQTS was mapped by Keating et al[20,21] to chromosome 11p15.5 (LQT1), followed shortly thereafter with the realization that LQTS locus heterogeneity existed (ie, multiple genes cause LQTS).[22-25] This was confirmed when Jiang et al[26] mapped the LQT2 and LQT3 genes to chromosome 7q35-36 and to chromosome 3p21-24, respectively.