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Brugada syndrome — ABIM Board MCQ

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HardCardiovascularBrugada syndromeABIM Board

A 42-year-old man is evaluated after abrupt syncope while asleep without a prodrome. His brother died suddenly at age 38. An ECG obtained while the patient is afebrile shows a normal PR interval and QTc. In leads V1 and V2, the J point is elevated 3 mm, followed by a downsloping ST segment that terminates in an inverted T wave. Echocardiography and cardiac magnetic resonance imaging show no structural cardiac abnormality. Serum electrolyte concentrations are normal. Which of the following is the most likely diagnosis?

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Correct answer: A — Brugada syndrome

This patient has **Brugada syndrome**, identified by a spontaneous type 1 ECG pattern: at least 2 mm of coved or downsloping ST-segment elevation in V1–V2 followed by T-wave inversion. Nocturnal syncope and premature sudden death in a first-degree relative further support an inherited malignant ventricular arrhythmia syndrome. Brugada syndrome generally occurs without structural heart disease. Arrhythmogenic right ventricular cardiomyopathy can cause syncope and right-precordial T-wave inversion but is associated with structural or functional right ventricular abnormalities and may show epsilon waves. Long QT syndrome requires QT prolongation. Wolff-Parkinson-White syndrome causes a short PR interval and delta wave. Hypertrophic cardiomyopathy would demonstrate otherwise unexplained ventricular hypertrophy on cardiac imaging.

Reference: American College of Cardiology/American Heart Association/Heart Rhythm Society. 2017 Guideline for Management of Patients With Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death, Brugada Syndrome section, 2017. https://professional.heart.org/en/science-news/2017-guideline-for-management-of-patients-with-ventricular-arrhythmias-and-the-prevention-of-scd/-/media/372e5f2704ae40b593b80f4d2a155e60.ashx