Sudden cardiac arrest due to a single sodium channel mutation producing a mixed phenotype of Brugada and Long QT3 syndromes

U Lakshmanadoss; A Mertens; M Gallagher; I Kutinsky; B Williamson

doi:10.1016/j.ipej.2016.07.001

Sudden cardiac arrest due to a single sodium channel mutation producing a mixed phenotype of Brugada and Long QT3 syndromes

Indian Pacing Electrophysiol J. 2016 Mar-Apr;16(2):66-69. doi: 10.1016/j.ipej.2016.07.001. Epub 2016 Jul 15.

Authors

U Lakshmanadoss¹, A Mertens², M Gallagher³, I Kutinsky³, B Williamson³

Affiliations

¹ Division of Cardiology, LSUHSC Shreveport, LA, United States. Electronic address: drlumashankar@gmail.com.
² Department of Medicine, William Beaumont Hospital, Oakland University School of Medicine, Royal Oak, MI, United States.
³ Division of Cardiology, William Beaumont Hospital, Oakland University School of Medicine, Royal Oak, MI, United States.

Abstract

Inherited arrhythmia syndromes are a known, albeit rare, cause of sudden cardiac arrest which may present with characteristic electrocardiogram changes in patients with structurally normal heart. There are a variety of distinct arrhythmogenic syndromes that arise from mutations in voltage gated sodium channels, resulting in either gain or loss of function. We describe a patient with a primary inherited arrhythmia syndrome which presented as sudden cardiac arrest. Further workup revealed that her arrest was due to a combination of Brugada syndrome and Long QT3 syndrome secondary to a deleterious mutation of voltage-gated, sodium channel, type V alpha subunit (SCN5A Thr1709Met).

Keywords: Brugada syndrome; LQT3 syndrome; SCN5A mutation; Sudden cardiac arrest.