Cardiac ChannelopathiesGenotype-Phenotype Relationships in Long QT SyndromeFigure 1: Congenital long QT syndrome (LQTS) comprises a distinct group of cardiac channelopathies characterized by delayed repolarization of the myocardium, QT prolongation, and increased risk for syncope, seizures, and sudden cardiac death in the setting of a structurally normal heart and otherwise healthy individualCongenital long QT syndrome (LQTS) comprises a distinct group of cardiac channelopathies characterized by delayed repolarization of the myocardium, QT prolongation, and increased risk for syncope, seizures, and sudden cardiac death in the setting of a structurally normal heart and otherwise healthy individual (Figure 1).(11,12) This repolarization …ver más…

This clinical diagnostic test is now used in heart rhythm centers throughout the world in an effort to unmask patients with concealed LQT1. With respect to catecholamine provocation studies, the applicant is again exploring the use of dobutamine and his patented T Wave Lability Index (Ackerman MJ, Nemec J, Shen, WK. Non-alternating Beat-to-Beat Fluctuations in T Wave Morphology: Patent No. 6,821,256. Mayo Foundation for Medical Education and Research - Rochester, MN. Issued November 23, 2004. as a means of risk stratification in LQTS (Mayo Clinic Proceedings 2003).Sleep and neural circulatory control in long QT syndromeOver 200 of the applicant’s LQTS genotype positive patients have participated as research subjects in our Clinical Research Unit (CRU)-based studies investigating Neural Circulatory Control in LQTS (HL/NS70302). Overnight sleep studies identified dysregulated sleep architecture and abnormal cardiac repolarization in women with type 2 LQTS (Circulation 2002) while microneurography studies revealed profoundly attenuated muscle sympathetic nerve activity in all patients with LQTS irrespective of the mutated gene (Circulation 2003).Genotype-Phenotype Relationships in Catecholaminergic Polymorphic