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Updated: Jul 15, 2026
07:15
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 syndrome]
1Medizinische Klinik mit Schwerpunkt Kardiologie, Campus Virchow-Klinikum, Charité-Universitätsmedizin Berlin, Berlin, Germany. wilhelm.haverkamp@charite.de
Herz
|May 15, 2007
Summary
Long QT syndrome (LQTS) causes dangerous heart rhythms and is diagnosed via ECG and genetic testing. Treatment includes beta-blockers and defibrillators for high-risk patients.
Area of Science:
- Cardiology
- Genetics
- Electrocardiography
Context:
- Long QT syndrome (LQTS) is a heart rhythm disorder.
- Characterized by a prolonged QT interval on ECG.
- Leads to life-threatening ventricular tachyarrhythmias like Torsade de Pointes.
Purpose:
- To outline the diagnosis and management of Long QT syndrome.
- To highlight the role of genetic analysis in diagnosis.
- To define high-risk patients and their treatment strategies.
Summary:
- Diagnosis relies on ECG findings, patient history, and increasingly, genetic analysis.
- Genetic testing identifies disease-causing genes in 70-80% of cases.
- Symptomatic treatment involves beta-blockers; implanted cardioverter-defibrillators are crucial for high-risk individuals.
Impact:
- Early diagnosis and appropriate treatment can prevent sudden cardiac death.
- Genetic insights improve risk stratification and personalized management.
- Defines criteria for high-risk patients requiring advanced therapies like ICDs.
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