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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
Najeeb Ahmed1, Kamran Riaz, Ripudeep Rai
1Department of Internal Medicine, Wright State University Boonshoft School of Medicine, Section of Electrophysiology, Good Samaritan Hospital, Dayton, Ohio, USA.
Long QT syndrome (LQTS) can be asymptomatic or cause serious events like sudden cardiac death. This case highlights LQTS diagnosis in a 47-year-old woman with no prior cardiac history.
Area of Science:
- Cardiology
- Clinical Electrophysiology
Background:
- Long QT syndrome (LQTS) is a cardiac channelopathy characterized by a prolonged QT interval on electrocardiogram.
- LQTS can range from asymptomatic findings to life-threatening arrhythmias like torsade de pointes, syncope, and sudden cardiac death.
- Precipitating factors include electrolyte disturbances, bradyarrhythmias, specific medications, and myocardial ischemia.
Observation:
- The study presents a case of LQTS in a 47-year-old woman.
- The patient had no significant prior cardiac history, suggesting LQTS can occur without pre-existing conditions.
- The diagnosis was made based on characteristic electrocardiogram findings.
Findings:
- The case demonstrates the varied clinical presentation of LQTS, from incidental electrocardiogram findings to severe symptoms.
- Electrocardiogram abnormalities associated with LQTS, such as prolonged QT interval and T-wave changes, are key diagnostic markers.
- The report underscores the importance of recognizing LQTS even in patients without apparent cardiac risk factors.
Implications:
- Early identification and management of LQTS are crucial to prevent potentially fatal cardiac events.
- Awareness of LQTS triggers, including medications, is vital for patient safety.
- This case contributes to the understanding of LQTS presentation in diverse patient populations.
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