Unmasking Brugada syndrome: a case report of diagnostic oversights

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.