Int J Arrhythm.  2022 Dec;23(4):27. 10.1186/s42444-022-00077-9.

SCN5A p.P1725L variant that showed ventricular fibrillation and recurrent pericarditis, and a family member with sick sinus syndrome

• Yamamoto H
• Itamoto C
• Hayashi M
• Kohno T
• Yagihara N

• KMID: 2537665
• DOI: http://doi.org/10.1186/s42444-022-00077-9

Abstract

Background
In Brugada syndrome (BrS), the arrhythmogenic substrate is suggested to be located in the epicardial surface of the right ventricle outflow tract. Postmortem examinations of BrS described epicardial and interstitial fibrosis, the causes of which remain unclear.
Case presentation
We present a family in whom the proband is a case of aborted sudden cardiac death from ventricular fibrillation (VF) without spontaneous Brugada-type electrocardiogram, and his mother underwent pacemaker implantation due to sick sinus syndrome. The proband showed recurrent acute pericarditis two consecutive years before the VF episode. These events occurred twice in mid-spring, the same season when the lethal arrhythmia occurred.
Conclusions
This case suggests a possibility in the pathogenesis of epicardial fibrosis of BrS that the RVOT lesions induced by SCN5A mutations have not only fibrotic characteristics but also in some patients, inflammatory characteristics which may be manifested as repeated mild pericarditis or occult pericarditis.

Keyword

Brugada syndrome; Sick sinus syndrome; SCN5A mutation; Acute pericarditis; Ventricular fibrillation