TY - JOUR
T1 - The diagnostic yield of Brugada syndrome after sudden death with normal autopsy
AU - Papadakis, Michael
AU - Papatheodorou, Efstathios
AU - Mellor, Greg
AU - Raju, Hariharan
AU - Bastiaenen, Rachel
AU - Wijeyeratne, Yanushi
AU - Wasim, Sara
AU - Ensam, Bode
AU - Finocchiaro, Gherardo
AU - Gray, Belinda
AU - Malhotra, Aneil
AU - D'Silva, Andrew
AU - Edwards, Nina
AU - Cole, Della
AU - Attard, Virginia
AU - Batchvarov, Velislav N.
AU - Tome-Esteban, Maria
AU - Homfray, Tessa
AU - Sheppard, Mary N.
AU - Sharma, Sanjay
AU - Behr, Elijah R.
PY - 2018/3/20
Y1 - 2018/3/20
N2 - 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.
AB - 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.
KW - ajmaline provocation testing
KW - cardiomyopathy
KW - ion channelopathy
KW - sudden arrhythmic death syndrome
UR - http://www.scopus.com/inward/record.url?scp=85042786510&partnerID=8YFLogxK
U2 - 10.1016/j.jacc.2018.01.031
DO - 10.1016/j.jacc.2018.01.031
M3 - Article
C2 - 29544603
AN - SCOPUS:85042786510
SN - 0735-1097
VL - 71
SP - 1204
EP - 1214
JO - Journal of the American College of Cardiology
JF - Journal of the American College of Cardiology
IS - 11
ER -