Related Experiment Video
Updated: Jun 26, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
Congenital long-QT syndromes: a clinical and genetic update from infancy through adulthood
Gregory Webster1, Charles I Berul
1Department of Cardiology, Children's Hospital Boston, Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA.
Abstract:
Long-QT syndromes (LQTSs) have been described in all ages and are a significant cause of cardiovascular mortality, especially in structurally normal hearts. Abnormalities in transmembrane ion conduction channels and structural proteins produce these clinical syndromes, labeled LQT1-LQT12; however, genotype-positive patients still represent only about 70% of LQTSs. Future research will determine the etiology of the remaining cases, further risk-stratify the known genetic defects, improve current treatment options for these syndromes, and uncover novel therapies.
Related Concept Videos
Cardiomyopathy I: Introduction and Classification
Dysrhythmias I: Introduction
Mechanism of Cardiac Arrhythmias
Principles of Pharmacogenetics: Types of Genetic Variants
ECG Interpretation of Arrhythmias II: Atrial, Junctional and Ventricular Arrhythmias
Pharmacogenetics and Pharmacogenomics: Overview

