Genetic variants in patients with recurrent pericarditis.

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%

SUBMITTER: Imazio M 

PROVIDER: S-EPMC11581433 | biostudies-literature | 2024 Nov

REPOSITORIES: biostudies-literature