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Updated: Jun 21, 2025
07:15
Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
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Unexpected Genetic Twists in Patients with Cardiac Devices
Emilia-Violeta Goanta1,2, Cristina Vacarescu3,4,5, Georgica Tartea2,6
1Doctoral School, "Victor Babes" University of Medicine and Pharmacy, 300041 Timisoara, Romania.
Journal of Clinical Medicine
|July 13, 2024
Summary
Genetic testing in arrhythmia patients undergoing cardiac device implantation reveals key mutations like TMEM43. This personalized approach helps tailor device selection for better patient outcomes.
Area of Science:
- Cardiology
- Genetics
- Personalized Medicine
Background:
- Arrhythmias and sudden cardiac death (SCD) pose significant health risks.
- Cardiac device implantation is a common treatment for various arrhythmias.
- Understanding the genetic basis of arrhythmias can inform treatment strategies.
Purpose of the Study:
- To determine the prevalence and spectrum of genetic mutations in patients with arrhythmias requiring cardiac device implantation.
- To correlate genetic findings with clinical characteristics and outcomes.
- To evaluate the role of genetic testing in guiding therapeutic decisions for cardiac device selection.
Main Methods:
- Retrospective observational study of 38 patients with arrhythmias and cardiac arrest.
- Patients received various cardiac devices including pacemakers, defibrillators, and CRT.
- Comprehensive genetic testing using commercial panels (106-174 genes) was performed.
Main Results:
- A family history of SCD was present in 50% of patients.
- Genetic mutations were identified, with TMEM43 being the most frequent (11%).
- Specific genetic profiles influenced cardiac resynchronization therapy response and mortality in dilated cardiomyopathy.
Conclusions:
- Genetic testing is crucial for personalized medicine in arrhythmia management.
- Identifying genetic markers aids in understanding arrhythmia susceptibility and heart failure etiology.
- Tailoring device choices based on genetic profiles can optimize patient outcomes and guide therapy.
Keywords:
cardiac devicesdefibrillatorsgeneticsloop recorderspacemakersresynchronization therapysudden cardiac deathMore Related Videos
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