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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
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Genetic variants in patients with recurrent pericarditis
Massimo Imazio1,2, Flavio Faletra3, Jessica Zucco3
1Department of Medicine (DMED), University of Udine.
Journal of Cardiovascular Medicine (Hagerstown, Md.)
|September 30, 2024
Summary
Genetic variants may predispose individuals to recurrent pericarditis. Whole exome sequencing revealed that approximately 15% of patients with multiple pericarditis episodes had disease-related genetic variants.
Area of Science:
- Cardiology
- Genetics
- Immunology
Background:
- Recurrent pericarditis may have a genetic component, with family cases and multiple recurrences suggesting a genetic predisposition in at least 10% of patients.
- Previous studies indicate a potential genetic link, but a comprehensive genetic landscape of patients with multiple recurrences remains underexplored.
Purpose of the Study:
- To investigate the genetic landscape of patients experiencing multiple recurrences of pericarditis.
- To identify genetic variants associated with recurrent pericarditis using whole exome sequencing.
Main Methods:
- Retrospective cohort study involving consecutive adult patients with at least two episodes of pericarditis.
- Whole exome sequencing (WES) was performed to analyze the genetic makeup of the patient cohort.
Main Results:
- 108 patients with recurrent pericarditis were included, with a median of 5 recurrences.
- 14.8% of patients (16/108) had variants in genes linked to inflammatory responses, including known pericarditis genes (NLRP3, TNFRSF1A, MEFV) and others (IFIH1, NFKBIA, JAK1, NOD2, ALPK1).
- Additionally, 10 patients had variants in genes associated with conduction system diseases, and 21 patients had variants in genes related to heart structure.
Conclusions:
- Approximately 15% of patients with recurrent pericarditis carry genetic variants potentially related to the condition.
- These findings underscore the significance of genetic predisposition in recurrent pericarditis.
- A notable percentage of patients (28.7%) harbor variants in cardiac-related genes, warranting further investigation.
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