Related Experiment Video
Updated: Jun 30, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
Charcot-Marie-Tooth type 1a in a child with Long QT syndrome
Luciana Losito1, Marta De Rinaldis, Leonarda Gennaro
1IRCCS E. Medea, Neurorehabilitation I Unit, Developmental Neurology and Functional Rehabilitation, Ostuni, Brindisi, Italy.
Abstract:
Charcot-Marie-Tooth disease (CMTD) is a hereditary demyelinating peripheral neuropathy clinically presenting with sensory and motor defects, but rarely affecting cardiac function. Long QT syndrome (LQTS) is a congenital or acquired cardiovascular disorder characterized by ventricular depolarization defect. No studies reported CMTD in association with LQTS. We describe a child and his family who had both CMT1A and LQTS.
Related Concept Videos
Dysrhythmias IV: Characteristics of Bradyarrhythmias
Mechanism of Cardiac Arrhythmias
Dysrhythmias II: Classification of Tachyarrhythmias
ECG Interpretation of Arrhythmias II: Atrial, Junctional and Ventricular Arrhythmias
Cardiomyopathy III: Hypertrophic Cardiomyopathy
Dysrhythmias III: Characteristics of Dysrhythmias

