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Abstract
Long QT syndrome (LQTS) is a hereditary channelopathy that predisposes individuals to the development of ventricular arrhythmias. Up to 16 genes have been described as involved in the development of LQTS, resulting in a wide clinical spectrum that complicates its therapeutic management. This study examines a population of Asturias children diagnosed with LQTS to describe their characteristics, associated genetic and phenotypic spectra, and treatment. A total of 27 cases of LQTS were identified in Health Area IV, the affected population was predominantly male of gypsy ethnicity and identified through other affected family members. The main genetic spectra identified were LQT1-KCNQ1, LQT2-KCNH2, and LQT3-SCN5AC, with the first two being at higher risk. The most prevalent spectrum was LQT2-KCNH2 due to the well-conserved mutation p.Gly262AlasTer98 in gypsy population, which is reported here for the first time in this population. The treatment for these patients included B-blocker, primarily bisoprolol and propranolol.
This study highlights the genetic and phenotypic diversity of LQTS in Asturias, emphasizing the need for appropriate surveillance and treatment to prevent lethal events in these patients.
References
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