Value of electrocardiographic parameters and ajmaline test in the diagnosis of Brugada syndrome caused by SCN5A mutations

Kui Hong, Josep Brugada, Antonio Oliva, Antonio Berruezo-Sanchez, Domenico Potenza, Guido D. Pollevick, Alejandra Guerchicoff, Kiyotaka Matsuo, Elena Burashnikov, Robert Dumaine, Jeffrey Towbin, Vladislav Nesterenko, Pedro Brugada, Charles Antzelevitch, Ramon Brugada

Research output: Contribution to journalArticle

137 Citations (Scopus)

Abstract

Background - The Brugada syndrome is an arrhythmogenic disease caused in part by mutations in the cardiac sodium channel gene, SCN5A. The electrocardiographic pattern characteristic of the syndrome is dynamic and is often absent in affected individuals. Sodium channel blockers are effective in unmasking carriers of the disease. However, the value of the test remains controversial. Methods and Results - We studied 147 individuals representing 4 large families with SCN5A mutations. Of these, 104 were determined to be at possible risk for Brugada syndrome and underwent both electrocardiographic and genetic evaluation. Twenty-four individuals displayed an ECG diagnostic of Brugada syndrome at baseline. Of the remaining, 71 received intravenous ajmaline. Of the 35 genetic carriers who received ajmaline, 28 had a positive test and 7 a negative ajmaline test. The sensitivity, specificity, and positive and negative predictive values of the drug challenge were 80% (28:35), 94.4% (34:36), 93.3% (28:30), and 82.9% (34:41), respectively. Penetrance of the disease phenotype increased from 32.7% to 78.6% with the use of sodium channel blockers. In the absence of ST-segment elevation under baseline conditions, a prolonged P-R interval, but not incomplete right bundle-branch block or early repolarization patterns, indicates a high probability of an SCN5A mutation carrier. Conclusions - In families with Brugada syndrome, the data suggest that ajmaline testing is valuable in the diagnosis of SCN5A carriers. In the absence of ST-segment elevation at baseline, family members with first-degree atrioventricular block should be suspected of carrying the mutation. An ajmaline test is often the key to making the proper diagnosis in these patients.

Original languageEnglish (US)
Pages (from-to)3023-3027
Number of pages5
JournalCirculation
Volume110
Issue number19
DOIs
StatePublished - Nov 9 2004

Fingerprint

Ajmaline
Brugada Syndrome
Mutation
Sodium Channel Blockers
Bundle-Branch Block
Penetrance
Atrioventricular Block
Sodium Channels
Heterozygote
Electrocardiography
Phenotype
Sensitivity and Specificity
Pharmaceutical Preparations
Genes

All Science Journal Classification (ASJC) codes

  • Cardiology and Cardiovascular Medicine
  • Physiology (medical)

Cite this

Hong, K., Brugada, J., Oliva, A., Berruezo-Sanchez, A., Potenza, D., Pollevick, G. D., ... Brugada, R. (2004). Value of electrocardiographic parameters and ajmaline test in the diagnosis of Brugada syndrome caused by SCN5A mutations. Circulation, 110(19), 3023-3027. https://doi.org/10.1161/01.CIR.0000144299.17008.07

Value of electrocardiographic parameters and ajmaline test in the diagnosis of Brugada syndrome caused by SCN5A mutations. / Hong, Kui; Brugada, Josep; Oliva, Antonio; Berruezo-Sanchez, Antonio; Potenza, Domenico; Pollevick, Guido D.; Guerchicoff, Alejandra; Matsuo, Kiyotaka; Burashnikov, Elena; Dumaine, Robert; Towbin, Jeffrey; Nesterenko, Vladislav; Brugada, Pedro; Antzelevitch, Charles; Brugada, Ramon.

In: Circulation, Vol. 110, No. 19, 09.11.2004, p. 3023-3027.

Research output: Contribution to journalArticle

Hong, K, Brugada, J, Oliva, A, Berruezo-Sanchez, A, Potenza, D, Pollevick, GD, Guerchicoff, A, Matsuo, K, Burashnikov, E, Dumaine, R, Towbin, J, Nesterenko, V, Brugada, P, Antzelevitch, C & Brugada, R 2004, 'Value of electrocardiographic parameters and ajmaline test in the diagnosis of Brugada syndrome caused by SCN5A mutations', Circulation, vol. 110, no. 19, pp. 3023-3027. https://doi.org/10.1161/01.CIR.0000144299.17008.07
Hong, Kui ; Brugada, Josep ; Oliva, Antonio ; Berruezo-Sanchez, Antonio ; Potenza, Domenico ; Pollevick, Guido D. ; Guerchicoff, Alejandra ; Matsuo, Kiyotaka ; Burashnikov, Elena ; Dumaine, Robert ; Towbin, Jeffrey ; Nesterenko, Vladislav ; Brugada, Pedro ; Antzelevitch, Charles ; Brugada, Ramon. / Value of electrocardiographic parameters and ajmaline test in the diagnosis of Brugada syndrome caused by SCN5A mutations. In: Circulation. 2004 ; Vol. 110, No. 19. pp. 3023-3027.
@article{d6ee44b8d2114f88bae09f38d413c4f3,
title = "Value of electrocardiographic parameters and ajmaline test in the diagnosis of Brugada syndrome caused by SCN5A mutations",
abstract = "Background - The Brugada syndrome is an arrhythmogenic disease caused in part by mutations in the cardiac sodium channel gene, SCN5A. The electrocardiographic pattern characteristic of the syndrome is dynamic and is often absent in affected individuals. Sodium channel blockers are effective in unmasking carriers of the disease. However, the value of the test remains controversial. Methods and Results - We studied 147 individuals representing 4 large families with SCN5A mutations. Of these, 104 were determined to be at possible risk for Brugada syndrome and underwent both electrocardiographic and genetic evaluation. Twenty-four individuals displayed an ECG diagnostic of Brugada syndrome at baseline. Of the remaining, 71 received intravenous ajmaline. Of the 35 genetic carriers who received ajmaline, 28 had a positive test and 7 a negative ajmaline test. The sensitivity, specificity, and positive and negative predictive values of the drug challenge were 80{\%} (28:35), 94.4{\%} (34:36), 93.3{\%} (28:30), and 82.9{\%} (34:41), respectively. Penetrance of the disease phenotype increased from 32.7{\%} to 78.6{\%} with the use of sodium channel blockers. In the absence of ST-segment elevation under baseline conditions, a prolonged P-R interval, but not incomplete right bundle-branch block or early repolarization patterns, indicates a high probability of an SCN5A mutation carrier. Conclusions - In families with Brugada syndrome, the data suggest that ajmaline testing is valuable in the diagnosis of SCN5A carriers. In the absence of ST-segment elevation at baseline, family members with first-degree atrioventricular block should be suspected of carrying the mutation. An ajmaline test is often the key to making the proper diagnosis in these patients.",
author = "Kui Hong and Josep Brugada and Antonio Oliva and Antonio Berruezo-Sanchez and Domenico Potenza and Pollevick, {Guido D.} and Alejandra Guerchicoff and Kiyotaka Matsuo and Elena Burashnikov and Robert Dumaine and Jeffrey Towbin and Vladislav Nesterenko and Pedro Brugada and Charles Antzelevitch and Ramon Brugada",
year = "2004",
month = "11",
day = "9",
doi = "10.1161/01.CIR.0000144299.17008.07",
language = "English (US)",
volume = "110",
pages = "3023--3027",
journal = "Circulation",
issn = "0009-7322",
publisher = "Lippincott Williams and Wilkins",
number = "19",

}

TY - JOUR

T1 - Value of electrocardiographic parameters and ajmaline test in the diagnosis of Brugada syndrome caused by SCN5A mutations

AU - Hong, Kui

AU - Brugada, Josep

AU - Oliva, Antonio

AU - Berruezo-Sanchez, Antonio

AU - Potenza, Domenico

AU - Pollevick, Guido D.

AU - Guerchicoff, Alejandra

AU - Matsuo, Kiyotaka

AU - Burashnikov, Elena

AU - Dumaine, Robert

AU - Towbin, Jeffrey

AU - Nesterenko, Vladislav

AU - Brugada, Pedro

AU - Antzelevitch, Charles

AU - Brugada, Ramon

PY - 2004/11/9

Y1 - 2004/11/9

N2 - Background - The Brugada syndrome is an arrhythmogenic disease caused in part by mutations in the cardiac sodium channel gene, SCN5A. The electrocardiographic pattern characteristic of the syndrome is dynamic and is often absent in affected individuals. Sodium channel blockers are effective in unmasking carriers of the disease. However, the value of the test remains controversial. Methods and Results - We studied 147 individuals representing 4 large families with SCN5A mutations. Of these, 104 were determined to be at possible risk for Brugada syndrome and underwent both electrocardiographic and genetic evaluation. Twenty-four individuals displayed an ECG diagnostic of Brugada syndrome at baseline. Of the remaining, 71 received intravenous ajmaline. Of the 35 genetic carriers who received ajmaline, 28 had a positive test and 7 a negative ajmaline test. The sensitivity, specificity, and positive and negative predictive values of the drug challenge were 80% (28:35), 94.4% (34:36), 93.3% (28:30), and 82.9% (34:41), respectively. Penetrance of the disease phenotype increased from 32.7% to 78.6% with the use of sodium channel blockers. In the absence of ST-segment elevation under baseline conditions, a prolonged P-R interval, but not incomplete right bundle-branch block or early repolarization patterns, indicates a high probability of an SCN5A mutation carrier. Conclusions - In families with Brugada syndrome, the data suggest that ajmaline testing is valuable in the diagnosis of SCN5A carriers. In the absence of ST-segment elevation at baseline, family members with first-degree atrioventricular block should be suspected of carrying the mutation. An ajmaline test is often the key to making the proper diagnosis in these patients.

AB - Background - The Brugada syndrome is an arrhythmogenic disease caused in part by mutations in the cardiac sodium channel gene, SCN5A. The electrocardiographic pattern characteristic of the syndrome is dynamic and is often absent in affected individuals. Sodium channel blockers are effective in unmasking carriers of the disease. However, the value of the test remains controversial. Methods and Results - We studied 147 individuals representing 4 large families with SCN5A mutations. Of these, 104 were determined to be at possible risk for Brugada syndrome and underwent both electrocardiographic and genetic evaluation. Twenty-four individuals displayed an ECG diagnostic of Brugada syndrome at baseline. Of the remaining, 71 received intravenous ajmaline. Of the 35 genetic carriers who received ajmaline, 28 had a positive test and 7 a negative ajmaline test. The sensitivity, specificity, and positive and negative predictive values of the drug challenge were 80% (28:35), 94.4% (34:36), 93.3% (28:30), and 82.9% (34:41), respectively. Penetrance of the disease phenotype increased from 32.7% to 78.6% with the use of sodium channel blockers. In the absence of ST-segment elevation under baseline conditions, a prolonged P-R interval, but not incomplete right bundle-branch block or early repolarization patterns, indicates a high probability of an SCN5A mutation carrier. Conclusions - In families with Brugada syndrome, the data suggest that ajmaline testing is valuable in the diagnosis of SCN5A carriers. In the absence of ST-segment elevation at baseline, family members with first-degree atrioventricular block should be suspected of carrying the mutation. An ajmaline test is often the key to making the proper diagnosis in these patients.

UR - http://www.scopus.com/inward/record.url?scp=20844438344&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=20844438344&partnerID=8YFLogxK

U2 - 10.1161/01.CIR.0000144299.17008.07

DO - 10.1161/01.CIR.0000144299.17008.07

M3 - Article

VL - 110

SP - 3023

EP - 3027

JO - Circulation

JF - Circulation

SN - 0009-7322

IS - 19

ER -