August 10, 2026Journal of the American College of Cardiology112 citationsOpen Access
The Diagnostic Yield of Brugada Syndrome After Sudden Death With Normal Autopsy
Key Result
Systematic ajmaline provocation testing using high right precordial leads provided a 16% incremental diagnostic yield for Brugada syndrome, identifying an additional 49 families.
Key Points
- This study aims to evaluate how systematic ajmaline provocation affects the diagnosis of Brugada syndrome in families with sudden arrhythmic death syndrome.
- Evaluated 303 sudden arrhythmic death syndrome families with resting ECG, echocardiography, and 24-hour monitoring.
- Conducted ajmaline tests on 670 relatives to identify Brugada syndrome.
- Analyzed diagnostic patterns using conventional and high right precordial leads.
- Diagnosed inherited cardiac diseases in 128 families (42%) and 201 relatives (22%).
- Brugada syndrome identified in 85 families (28%) and 140 relatives (15%).
- High right precordial leads increased the diagnostic yield by 16%, identifying Brugada syndrome in 49 additional families.
Study Design
Type
Observational (n=911)
Structured PICO
Does systematic ajmaline provocation testing with high right precordial leads improve the diagnostic yield of Brugada syndrome in relatives of sudden arrhythmic death syndrome victims?
P
Population
911 relatives from 303 families with a history of sudden arrhythmic death syndrome undergoing familial evaluation.
E
Exposure
Systematic ajmaline provocation testing using high right precordial leads (RPLs)
C
Comparator
Conventional evaluation and conventional RPLs
O
Outcome
Diagnostic yield of Brugada syndrome (BrS)surrogate
Systematic ajmaline provocation testing with high right precordial leads substantially increases the detection of Brugada syndrome in relatives of SADS victims.
Abstract
BACKGROUND: Familial evaluation after a sudden death with negative autopsy (sudden arrhythmic death syndrome; SADS) may identify relatives at risk of fatal arrhythmias. OBJECTIVES: This study aimed to assess the impact of systematic ajmaline provocation testing using high right precordial leads (RPLs) on the diagnostic yield of Brugada syndrome (BrS) in a large cohort of SADS families. METHODS: Three hundred three SADS families (911 relatives) underwent evaluation with resting electrocardiogram using conventional and high RPLs, echocardiography, exercise, and 24-h electrocardiogram monitor. An ajmaline test with conventional and high RPLs was undertaken in 670 (74%) relatives without a familial diagnosis after initial evaluation. Further investigations were guided by clinical suspicion. RESULTS: An inherited cardiac disease was diagnosed in 128 (42%) families and 201 (22%) relatives. BrS was the most prevalent diagnosis (n = 85, 28% of families; n = 140, 15% of relatives). Ajmaline testing was required to unmask the BrS in 97% of diagnosed individuals. The use of high RPLs showed a 16% incremental diagnostic yield of ajmaline testing by diagnosing BrS in an additional 49 families. There were no differences of the characteristics between individuals and families with a diagnostic pattern in the conventional and the high RPLs. On follow-up, a spontaneous type 1 Brugada pattern and/or clinically significant arrhythmic events developed in 17% (n = 25) of the concealed BrS cohort. CONCLUSIONS: Systematic use of ajmaline testing with high RPLs increases substantially the yield of BrS in SADS families. Assessment should be performed in expert centers where patients are counseled appropriately for the potential implications of provocation testing.
Cite This Study
Papadakis et al. (Thu,) conducted a observational in Sudden arrhythmic death syndrome (SADS) (n=911). Ajmaline provocation testing using high right precordial leads vs. Conventional right precordial leads was evaluated on Diagnostic yield of Brugada syndrome. Systematic ajmaline provocation testing using high right precordial leads provided a 16% incremental diagnostic yield for Brugada syndrome, identifying an additional 49 families.