Impact of clinical and genetic findings on the management of young patients with Brugada syndrome
Antoine Andorin, MDcorrespondenceemail, Elijah R. Behr, MA, MBBS, MD, FRCP, Isabelle Denjoy, MD, Lia Crotti, MD, PhD, Federica Dagradi, MD, Laurence Jesel, MD, Fréderic Sacher, MD, Bertrand Petit, MD, Philippe Mabo, MD, Alice Maltret, MD, Leonie C.H. Wong, MD, Bruno Degand, MD, Géraldine Bertaux, MD, Philippe Maury, MD, Yves Dulac, MD, Béatrice Delasalle, MS, Jean-Baptiste Gourraud, MD, PhD, Dominique Babuty, MD, PhD, Nico A. Blom, MD, PhD, Peter J. Schwartz, MD, Arthur A. Wilde, MD, PhD, Vincent Probst, MD, PhD
Heart Rhythm June 2016 Volume 13, Issue 6, Pages 1274–1282
Background
Brugada syndrome (BrS) is an arrhythmogenic disease associated with sudden cardiac death (SCD) that seldom manifests or is recognized in childhood.
Objectives
The objectives of this study were to describe the clinical presentation of pediatric BrS to identify prognostic factors for risk stratification and to propose a data-based approach management.
Methods
We studied 106 patients younger than 19 years at diagnosis of BrS enrolled from 16 European hospitals.
Results
At diagnosis, BrS was spontaneous (n = 36, 34%) or drug-induced (n = 70, 66%). The mean age was 11.1 ± 5.7 years, and most patients were asymptomatic (family screening, (n = 67, 63%; incidental, n = 13, 12%), while 15 (14%) experienced syncope, 6(6%) aborted SCD or symptomatic ventricular tachycardia, and 5 (5%) other symptoms. During follow-up (median 54 months), 10 (9%) patients had life-threatening arrhythmias (LTA), including 3 (3%) deaths. Six (6%) experienced syncope and 4 (4%) supraventricular tachycardia. Fever triggered 27% of LTA events. An implantable cardioverter-defibrillator was implanted in 22 (21%), with major adverse events in 41%. Of the 11 (10%) patients treated with hydroquinidine, 8 remained asymptomatic. Genetic testing was performed in 75 (71%) patients, and SCN5A rare variants were identified in 58 (55%); 15 of 32 tested probands (47%) were genotype positive. Nine of 10 patients with LTA underwent genetic testing, and all were genotype positive, whereas the 17 SCN5A-negative patients remained asymptomatic. Spontaneous Brugada type 1 electrocardiographic (ECG) pattern (P = .005) and symptoms at diagnosis (P = .001) were predictors of LTA. Time to the first LTA event was shorter in patients with both symptoms at diagnosis and spontaneous Brugada type 1 ECG pattern (P = .006).
Conclusion
Spontaneous Brugada type 1 ECG pattern and symptoms at diagnosis are predictors of LTA events in the young affected by BrS. The management of BrS should become age-specific, and prevention of SCD may involve genetic testing and aggressive use of antipyretics and quinidine, with risk-specific consideration for the implantable cardioverter-defibrillator.