Unmasking Brugada syndrome: a case report of diagnostic oversights

TL;DR

A 22-year-old man was misdiagnosed with epilepsy due to misread ECGs, but later correctly diagnosed with Brugada syndrome after further tests.

Contribution

Highlights diagnostic challenges and the importance of recognizing Brugada Type 1 ECG patterns to prevent sudden cardiac death.

Findings

Initial ECGs were misinterpreted as incomplete right bundle branch blocks, delaying correct diagnosis.

A propafenone provocation test and MRI confirmed Brugada syndrome in the patient.

Implantation of an S-ICD successfully prevented sudden cardiac death.

Abstract

Brugada syndrome (BrS) is an unusual cardiac channelopathy associated with an increased risk of ventricular fibrillation (VF) and sudden cardiac death (SCD), highlighting the critical importance of early diagnosis.

A 22-year-old male patient presented with recurrent episodes of syncope, palpitations, and dyspnoea. Initial electrocardiograms (ECGs) showing a Brugada Type 1 pattern were misinterpreted as incomplete right bundle branch blocks. The patient was erroneously diagnosed with epilepsy due to misinterpretation of his syncope episodes as seizures. After further investigations, including a propafenone provocation test and cardiac magnetic resonance imaging (MRI), BrS was confirmed. An electrophysiologic study showed no inducibility of ventricular tachycardia (VT) or VF, and a subcutaneous implantable cardioverter-defibrillator (S-ICD) was implanted for the prevention of SCD. The patient’s recovery was successful and uncomplicated.

Brugada syndrome patients usually present with SCD, syncope, or severe arrhythmias. Syncope is the most common clinical presentation and identifies patients who could benefit from ICD. Only the Type 1 Brugada pattern is diagnostic, either spontaneous, unmasked by high precordial leads, or by sodium channel inhibition. Implantable cardioverter-defibrillator placement is indicated to prevent SCD. A subcutaneous defibrillator should be considered if the patient has no need for anti-bradyarrhythmia pacing.

Early recognition of BrS in patients with syncope is critical, especially for first-line providers interpreting ECGs, as it may prevent SCD.

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