Genetic Variants in Patients with Recurrent Pericarditis

Overview

Journal J Cardiovasc Med (Hagerstown)

Specialty Cardiology & Vascular Diseases

Date 2024 Sep 30

PMID 39347728

Authors

Massimo Imazio

Flavio Faletra

Jessica Zucco

Catia Mio

Matteo Carraro

Alberto Maria Gava

Marzia De Biasio

Giuseppe Damante

Valentino Collini

Affiliations

Soon will be listed here.

Abstract

Aims: Presence of family cases and multiple recurrences of pericarditis suggest the existence of a possible genetic background in at least 10% of cases. The aim of the present study is to describe the genetic landscape of a cohort of patients with multiple recurrences (at least two recurrences).

Methods: Retrospective cohort study of consecutive adult patients referred for at least two episodes of recurrences in a tertiary referral centre. Genetic testing was performed by whole exome sequencing (WES).

Results: Our cohort included 108 consecutive patients with recurrent pericarditis [median age 32 years, interquartile range (IQR) 18.5; 67.6% females, all Caucasian, idiopathic aetiology in 71.1%] with a median number of recurrences of 5 (IQR 2). Overall, 16 patients (14.8%) had variants in genes related to the inflammatory response. Eleven variants were located in genes already associated with recurrent pericarditis (NLRP3, TNFRSF1A and MEFV) and five in inflammation/immunodeficiency-related genes (IFIH1, NFKBIA, JAK1, NOD2 and ALPK1). Furthermore, we identified 10 patients with variants located in genes associated with conduction system-related diseases, and 22 variants in 21 patients with genes associated with heart structural-related diseases.

Conclusion: In this first observational study using WES to assess genetic variants in patients with multiple recurrences of pericarditis, about 15% of patients bore at least one variant that may be related to the disease. These findings highlight the importance of addressing the role of genetic predisposition in recurrent pericarditis. Moreover, 28.7% of patients carry variants in different cardiac genes, worthy of a deeper investigation.

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