DIRETRIZ DE ARRITMIAS CARDÍACAS EM CRIANÇAS E CARDIOPATIAS CONGÊNITAS SOBRAC E DCC - CP

We sought to determine which surgical technique of left atrial appendage (LAA) closure is most successful by assessing them with transesophageal echocardiography (TEE). Atrial fibrillation is a risk factor for stroke, with 90% of clots occurring in the LAA. Several surgical techniques of LAA closure are used to theoretically reduce the stroke risk, with varying success rates. A total of 137 of 2,546 patients who underwent surgical LAA closure from 1993 to 2004 had a TEE after surgery. Techniques consisted of either excision or exclusion by sutures or stapling. The TEE measurements included color Doppler flow in the LAA and interrogation for thrombus. Patent LAA, remnant LAA (residual stump >1 cm), or excluded LAA with persistent flow into the LAA were identified as unsuccessful closure. Of the 137 patients, 52 (38%) underwent excision and 85 (62%) underwent exclusion (73 suture and 12 stapler). Only 55 of 137 (40%) of closures were successful. Successful LAA closure occurred more often with excision (73%) than suture exclusion (23%) and stapler exclusion (0%) (p < 0.001). We found LAA thrombus to be present in 28 of 68 patients (41%) with unsuccessful LAA exclusion versus none with excision. At time of TEE, 6 patients with successful LAA closure (11%) and 12 with unsuccessful closure (15%) had evidence of stroke/transient ischemic attack (p = 0.61). There is a high occurrence of unsuccessful surgical LAA closure. Of the various techniques, excision appears to be the most successful.

Brugada syndrome (BrS) is a common heritable channelopathy. Mutations in the SCN5A-encoded sodium channel (BrS1) culminate in the most common genotype. This study sought to perform a retrospective analysis of BrS databases from 9 centers that have each genotyped >100 unrelated cases of suspected BrS. Mutational analysis of all 27 translated exons in SCN5A was performed. Mutation frequency, type, and localization were compared among cases and 1,300 ostensibly healthy volunteers including 649 white subjects and 651 nonwhite subjects (blacks, Asians, Hispanics, and others) that were genotyped previously. A total of 2,111 unrelated patients (78% male, mean age 39 +/- 15 years) were referred for BrS genetic testing. Rare mutations/variants were more common among BrS cases than control subjects (438/2,111, 21% vs. 11/649, 1.7% white subjects and 31/651, 4.8% nonwhite subjects, respectively, P <10(-53)). The yield of BrS1 genetic testing ranged from 11% to 28% (P = .0017). Overall, 293 distinct mutations were identified in SCN5A: 193 missense, 32 nonsense, 38 frameshift, 21 splice-site, and 9 in-frame deletions/insertions. The 4 most frequent BrS1-associated mutations were E1784K (14x), F861WfsX90 (11x), D356N (8x), and G1408R (7x). Most mutations localized to the transmembrane-spanning regions. This international consortium of BrS genetic testing centers has added 200 new BrS1-associated mutations to the public domain. Overall, 21% of BrS probands have mutations in SCN5A compared to the 2% to 5% background rate of rare variants reported in healthy control subjects. Additional studies drawing on the data presented here may help further distinguish pathogenic mutations from similarly rare but otherwise innocuous ones found in cases.

Patients with Brugada syndrome who were resuscitated from an episode of ventricular fibrillation are at high risk for recurrent sudden death. There is general agreement about the therapeutic strategy for these patients. Conversely, the prognosis and approach in patients with a diagnostic ECG but without a previous history of sudden cardiac death is controversial. We analyzed a large cohort of patients with Brugada syndrome without previous cardiac arrest to understand the determinants of prognosis. A total of 547 patients with an ECG diagnostic of Brugada syndrome and no previous cardiac arrest were studied. The mean age was 41+/-15 years, and 408 were male. The diagnostic ECG was present spontaneously in 391 patients. In the remaining 156 individuals, the abnormal ECG was noted only after the administration of an antiarrhythmic drug. One hundred twenty-four patients had suffered from at least 1 episode of syncope. During programmed ventricular stimulation, a sustained ventricular arrhythmia was induced in 163 of 408 patients. During a mean follow-up of 24+/-32 months, 45 patients (8%) suffered sudden death or documented ventricular fibrillation. Multivariate analysis identified the inducibility of a sustained ventricular arrhythmia (P<0.0001) and a history of syncope (P<0.01) as predictors of events. Logistic regression analysis showed that a patient with a spontaneously abnormal ECG, a previous history of syncope, and inducible sustained ventricular arrhythmias had a probability of 27.2% of suffering an event during follow-up. Individuals with Brugada syndrome and no previous cardiac arrest have a high risk of sudden death. Inducibility of ventricular arrhythmias and a previous history of syncope are markers of a poor prognosis.