Related Experiment Video
Updated: Aug 6, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
Long QT syndrome genotyping by electrocardiography: fact, fiction, or something in between?
Jørgen K Kanters1, Claus Graff, Mads P Andersen
1Laboratory of Experimental Cardiology, Department of Medical Physiology, University of Copenhagen, DK2200 Copenhagen N, Denmark. jkanters@mfi.ku.dk
Abstract:
Diagnosis of long QT syndrome (LQTS) is difficult. A prolonged QT interval is easily overlooked, and in 10% of all patients with LQTS, the QT interval is normal. Genotyping is unfortunately not able to detect all patients and healthy subjects correctly. Although QT prolongation is the most used risk parameter, there is no clear correlation between the prolonged QT interval and the risk of arrhythmias in drug-induced LQTS. Quantification of T-wave morphology is a promising method that is able to provide more information about repolarization than QT prolongation alone. It is a fact that ECG evaluation can serve as a guide for genotyping and can reduce the costs by suggesting which gene to start sequencing, but it is fiction that the ECG can replace genotyping.
Related Concept Videos
Electrocardiogram
Three major waveforms are present in a typical ECG recording: the P wave, the QRS complex, and the T...
Electrocardiogram 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 to...
ECG Interpretation of Arrhythmias II: Atrial, Junctional and Ventricular Arrhythmias
ECG 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. When...
Dysrhythmias V: Evaluating Dysrhythmias
Dysrhythmias III: Characteristics of Dysrhythmias
