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Natural History and Risk Stratification in Andersen-Tawil Syndrome Type 1
Andrea Mazzanti1, Dmitri Guz2, Alessandro Trancuccio3
1Molecular Cardiology, IRCCS ICS Maugeri, Pavia, Italy; Department of Molecular Medicine, University of Pavia, Pavia, Italy; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart.
Journal of the American College of Cardiology
|April 18, 2020
Summary
Andersen-Tawil Syndrome type 1 (ATS1) patients face a high risk of life-threatening arrhythmic events (LAE). History of syncope or ventricular tachycardia increases LAE risk, while amiodarone should be avoided.
Area of Science:
- Cardiology
- Genetics
- Electrophysiology
Background:
- Andersen-Tawil Syndrome type 1 (ATS1) is a rare genetic disorder caused by KCNJ2 gene mutations.
- It is an arrhythmogenic condition with significant clinical implications.
Purpose of the Study:
- To define the risk of life-threatening arrhythmic events (LAE) in ATS1 patients.
- To identify predictors for these events.
- To evaluate the efficacy of antiarrhythmic therapies.
Main Methods:
- A large international cohort of ATS1 patients was assembled from 23 centers.
- Clinical and genetic data were collected and analyzed.
- Long-term follow-up data on arrhythmic events and therapies were recorded.
Main Results:
- 118 ATS1 patients were followed for a median of 6.2 years.
- A 7.9% cumulative probability of first LAE was observed at 5 years.
- Syncope, sustained ventricular tachycardia, and amiodarone use were associated with increased LAE risk.
Conclusions:
- ATS1 is associated with a high rate of life-threatening arrhythmic events.
- History of syncope or documented ventricular tachycardia predicts higher LAE risk.
- Amiodarone is proarrhythmic in ATS1 and should be avoided.
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