Related Experiment Video
Updated: Jul 6, 2025
Dual-Dye Optical Mapping of Hearts from RyR2R2474S Knock-In Mice of Catecholaminergic Polymorphic Ventricular Tachycardia
Published on: December 22, 2023
The Heart of Rett Syndrome: A Quantitative Analysis of Cardiac Repolarization
Michael P Collins1,2, Mark C Johnson1, Robin C Ryther3
1Department of Pediatrics, Washington University in St. Louis School of Medicine, St. Louis, MO, USA.
Background:
Rett syndrome (RTT) is a developmental encephalopathy disorder that is associated with a high incidence of sudden death presumably from cardiorespiratory etiologies. Electrocardiogram (ECG) abnormalities, such as prolonged heart-rate corrected QT (QTc) interval, are markers of cardiac repolarization and are associated with potentially lethal ventricular arrhythmias. This study investigates the cardiac repolarization characteristics of RTT patients, including QTc and T-wave morphology characteristics.
Methods:
A retrospective quantitative analysis on 110 RTT patients and 124 age and sex-matched healthy controls was conducted.
Results:
RTT patients had longer QTc, more abnormal T-wave morphology, and greater heterogeneity of cardiac repolarization parameters compared to controls. Even RTT patients without prolonged QTc had more abnormal ECG and T-wave characteristics than controls. Among RTT patients, MECP2 patients had prolonged QTc compared to CDKL5 and FOXG1 patients. A subset of five RTT patients who died had normal QTc, but more abnormal T-wave morphology than the remaining RTT patients.
Conclusions:
Cardiac repolarization abnormalities are present in RTT patients, even without long QTc. T-wave morphology is related to RTT genotype and may be predictive of mortality. These findings could be used to help the management and monitoring of RTT patients.
Related Concept Videos
01:30Cardiac Action Potential
The cardiac action potential process involves a series of phases characterized by the movement of ions across the cardiac cell membranes, leading to the depolarization and repolarization of the cardiac myocytes.
Ionic Basis of Cardiac Action Potentials
01:19Electrophysiology of Normal Cardiac Rhythm
01:29Electrocardiogram
Three major waveforms are present in a typical ECG recording: the P wave, the QRS complex, and...
01:24ECG Interpretation of Rhythms
Components of the Electrocardiogram
The primary components of a normal ECG waveform in Normal sinus rhythm(NSR) include the P wave, PR interval, QRS complex, ST segment, T wave, and occasionally a U wave.
ECG waveforms are divided by vertical and horizontal lines at standard intervals.
The horizontal axis measures time and rate, and the vertical axis measures amplitude or voltage....
01:28Electrocardiogram Fundamentals
An electrocardiogram (ECG) is a diagnostic tool for identifying cardiac conditions such as arrhythmias, conduction abnormalities, and myocardial ischemia.
Definition
An electrocardiogram (ECG) visualizes the heart's electrical activity by tracing the electrical movement associated with each heartbeat on a graph or monitor. As the heart beats, an electrical wave passes through it, correlating with the cardiac cycle events.
Parts of an ECG
An ECG utilizes electrodes on the skin...
01:25Correlation between ECG and Cardiac Cycle
A cardiac action potential originates in the SA node and spreads throughout the atria and the AV node in approximately 0.03 seconds. This results in the P wave in an ECG and triggers atrial contraction. The action potential is then briefly slowed at the AV node, allowing the atria to contract and fill the ventricles with blood before...