The diagnostic yield of Brugada syndrome after sudden death with normal autopsy

Michael Papadakis, Efstathios Papatheodorou, Greg Mellor, Hariharan Raju, Rachel Bastiaenen, Yanushi Wijeyeratne, Sara Wasim, Bode Ensam, Gherardo Finocchiaro, Belinda Gray, Aneil Malhotra, Andrew D'Silva, Nina Edwards, Della Cole, Virginia Attard, Velislav N. Batchvarov, Maria Tome-Esteban, Tessa Homfray, Mary N. Sheppard, Sanjay Sharma* & 1 others Elijah R. Behr

*Corresponding author for this work

Research output: Contribution to journalArticle

28 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)1204-1214
Number of pages11
JournalJournal of the American College of Cardiology
Volume71
Issue number11
DOIs
Publication statusPublished - 20 Mar 2018
Externally publishedYes

Keywords

  • ajmaline provocation testing
  • cardiomyopathy
  • ion channelopathy
  • sudden arrhythmic death syndrome

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