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Updated: Oct 11, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
Simultaneous Catecholaminergic Polymorphic Ventricular Tachycardia and Long QT Syndrome Gene Mutations
Muhddesa Lakhana1, James McGee1, Blessen George1
1Internal Medicine, Mount Sinai South Nassau, Oceanside, USA.
Abstract:
Genetic channelopathies can predispose individuals to life-threatening arrhythmias. Two such channelopathies are long QT syndrome (LQTS) and catecholaminergic polymorphic ventricular tachycardia (CPVT). To the best of our knowledge, we present the first case of LQTS with novel combined genetic mutations of KCNH2 and cardiac ryanodine receptor (RYR2) genes.
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