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Case Reports
. 2017 Jan;30(1):62-63.
doi: 10.1080/08998280.2017.11929530.

A variant of Brugada syndrome

Maryna Popp Switzer  1 , Mohamed Teleb  1 , Enoch Agunanne  1 , Aamer Abbas  1
Affiliations
Case Reports

A variant of Brugada syndrome

Maryna Popp Switzer et al. Proc (Bayl Univ Med Cent). 2017 Jan.

Abstract

Brugada syndrome is an inherited disorder that can present with syncope, cardiac arrest, or sudden cardiac death. Multiple genetic mutations have been described that cause this disease. We present a 56-year-old man who sustained an out-of-hospital cardiac arrest, was resuscitated, and was found to have typical features of the Brugada criteria on the electrocardiogram. Genetic testing was positive for a heterozygous mutation in the sodium voltage-gated channel alpha subunit 5 (SCN5A) gene with a p. Leu227Pro (L227P) variant located on exon 6. To our knowledge, this is the first described case with this variant causing malignant arrhythmia with a cardiac arrest.

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Figures

Figure 1.
Figure 1.
Initial ECG showing first-degree atrioventricular block with mild elevation of the ST segment in V2.
Figure 2.
Figure 2.
A repeat ECG showing coving of the ST segment in V1 to V2, consistent with Brugada criteria.
See this image and copyright information in PMC

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