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Challenges of Diagnosis of Long‐QT Syndrome in Children
Author(s) -
MORICJANISZEWSKA EWA,
MARKIEWICZŁOSKOT GRAŻYNA,
ŁOSKOT MARIA,
WĘGLARZ LUDMIŁA,
HOLLEK ANDRZEJ,
SZYDŁOWSKI LESŁAW
Publication year - 2007
Publication title -
pacing and clinical electrophysiology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.686
H-Index - 101
eISSN - 1540-8159
pISSN - 0147-8389
DOI - 10.1111/j.1540-8159.2007.00832.x
Subject(s) - medicine , herg , long qt syndrome , ventricular tachycardia , cardiology , electrocardiography , tachycardia , catecholaminergic polymorphic ventricular tachycardia , risk stratification , qt interval , potassium channel , ryanodine receptor 2 , ryanodine receptor , calcium
We describe the clinical and genetic characteristics of the family, in which the diagnosis of LQT1 had been made. The electrocardiogram (ECG) characteristics of this patient indicated the likelihood of LQTS1. Polymorphic ventricular extrasystolies and episodes of polymorphic non‐sustained ventricular tachycardia were confirmed by Holter ECG monitoring. On the exertional electrocardiogram polymorphic ventricular tachycardia (torsade de pointes) was recorded. Direct sequencing of both DNA strands revealed the absence of mutations or polymorphisms in the KCNQ1, HERG, and SCN5A genes.