A fatal adverse event upon adenotonsillectomy in a child. Are Brugada syndrome and propofol real accomplices?

Peer reviewedPostprin

Compound heterozygous SCN5A mutations in severe sodium channelopathy with Brugada syndrome : a case report

Aims:Brugada syndrome (BrS) is an inherited cardiac arrhythmia with an increased risk for sudden cardiac death (SCD). About 20% of BrS cases are explained by mutations in theSCN5Agene, encoding the main cardiac sodium Na(v)1.5 channel. Here we present a severe case of cardiac sodium channelopathy with BrS caused bySCN5Acompound heterozygous mutations. We performed a genetic analysis ofSCN5Ain a male proband who collapsed during cycling at the age of 2 years. Because of atrial standstill, he received a pacemaker, and at the age of 3 years, he experienced a collapse anew with left-sided brain stroke. A later ECG taken during a fever unmasked a characteristic BrS type-1 pattern. The functional effect of the detected genetic variants was investigated. Methods and Results:Next-generation sequencing allowed the detection of twoSCN5Avariants intrans: c.4813+3_4813+6dupGGGT-a Belgian founder mutation-and c.4711 T>C, p.Phe1571Leu. A familial segregation analysis showed the presence of the founder mutation in the proband's affected father and paternal aunt and thede novooccurrence of the p.Phe1571Leu. The functional effect of the founder mutation was previously described as a loss-of-function. We performed a functional analysis of the p.Phe571Leu variant in HEK293 cells alone or co-expressed with the beta(1)-subunit. Compared to theSCN5Awild type, p.Phe1571Leu displayed a hyperpolarizing shift in the voltage dependence of inactivation (loss-of-function), while the activation parameters were unaffected. Using the peptide toxin nemertide alpha-1, the variant's loss-of-function effect could be restored due to a toxin-dependent reduction of channel inactivation. Conclusion:This is the first report providing support for the pathogenicity of the p.Phe1571LeuSCN5Avariant which, together with the c.4813+3_4813+6dupGGGT founder mutation, explains the severity of the phenotype of cardiac sodium channelopathy with BrS in the presented case

Drug-Induced Brugada Syndrome in Children Clinical Features, Device-Based Management, and Long-Term Follow-Up

ObjectivesThe goal of this study was to investigate the clinical features, management, and long-term follow-up of children with drug-induced Brugada syndrome (BS).BackgroundPatients with BS <12 years of age with a spontaneous type I electrocardiogram have a higher risk of arrhythmic events. Data on drug-induced BS in patients <12 years of age are lacking.MethodsAmong 505 patients with ajmaline-induced BS, subjects ≤12 years of age at the time of diagnosis were considered as children and eligible for this study.ResultsForty children (60% male; age 8 ± 2.8 years) were included. Twenty-four children (60%) had a family history of sudden death. Two (5%) had a previous episode of aborted sudden death, and 8 (20%) had syncope. Children experienced more frequent episodes of sinus node dysfunction (SND) compared with older subjects (7.5% vs. 1.5%; p = 0.04) and had a comparable incidence of atrial tachyarrhythmias. Children more frequently experienced episodes of ajmaline-induced sustained ventricular arrhythmias (VAs) compared with older patients (10.0% vs. 1.3%; p = 0.005). Twelve children (30%) received an implantable cardioverter-defibrillator (ICD). After a mean follow-up time of 83 ± 51 months, none of the children died suddenly. Spontaneous sustained VAs were documented in 1 child (2%). Among children with ICD, 1 (8%) experienced an appropriate shock, 4 (33%) had inappropriate ICD shocks, and 4 (33%) experienced device-related complications.ConclusionsDrug-induced BS is associated with atrial arrhythmias and SND. Children are at higher risk of ajmaline-induced VAs. The rate of device-related complications, leading to lead replacement or inappropriate shocks, is considerable and even higher than with appropriate interventions. Based on these findings, the optimal management of BS in childhood should remain individualized, taking into consideration the patient's clinical history and family's wishes

Evaluation of late cardiac effects after multisystem inflammatory syndrome in children

IntroductionMultisystem inflammatory syndrome in children (MIS-C) is associated with important cardiovascular morbidity during the acute phase. Follow-up shows a swift recovery of cardiac abnormalities in most patients. However, a small portion of patients has persistent cardiac sequelae at mid-term. The goal of our study was to assess late cardiac outcomes of MIS-C.MethodsA prospective observational multicenter study was performed in children admitted with MIS-C and cardiac involvement between April 2020 and March 2022. A follow-up by NT-proBNP measurement, echocardiography, 24-h Holter monitoring, and cardiac MRI (CMR) was performed at least 6 months after MIS-C diagnosis.ResultsWe included 36 children with a median age of 10 (8.0–11.0) years, and among them, 21 (58%) were girls. At diagnosis, all patients had an elevated NT-proBNP, and 39% had a decreased left ventricular ejection fraction (LVEF) (&lt;55%). ECG abnormalities were present in 13 (36%) patients, but none presented with arrhythmia. Almost two-thirds of patients (58%) had echocardiographic abnormalities such as coronary artery dilation (20%), pericardial effusion (17%), and mitral valve insufficiency (14%). A decreased echocardiographic systolic left ventricular (LV) function was detected in 14 (39%) patients. A follow-up visit was done at a mean time of 12.1 (±5.8) months (range 6–28 months). The ECG normalized in all except one, and no arrhythmias were detected on 24-h Holter monitoring. None had persistent coronary artery dilation or pericardial effusion. The NT-proBNP level and echocardiographic systolic LV function normalized in all patients, except for one, who had a severely reduced EF. The LV global longitudinal strain (GLS), as a marker of subclinical myocardial dysfunction, decreased (z &lt; −2) in 35%. CMR identified one patient with severely reduced EF and extensive myocardial fibrosis requiring heart transplantation. None of the other patients had signs of myocardial scarring on CMR.ConclusionLate cardiac outcomes after MIS-C, if treated according to the current guidelines, are excellent. CMR does not show any myocardial scarring in children with normal systolic LV function. However, a subgroup had a decreased GLS at follow-up, possibly as a reflection of persistent subclinical myocardial dysfunction

Pharmacological cardioversion of supraventricular tachycardia in pregnancy during continuous electrophysiological foetal monitoring: A case report

Background: Maternal tachycardia is the most frequently occurring cardiac complication during pregnancy. Often administration of drugs is required as a treatment. The drug of choice is intravenously administered adenosine because it is considered safe, though there are limited studies regarding safety for the foetus with the use of adenosine. Case summary: We report a conversion of maternal atrio-ventricular (AV) nodal reentry tachycardia during pregnancy with the use of intravenous adenosine whilst continuous electrophysiological foetal monitoring. Four seconds after the maternal conversion, the foetal tracing suggests the presence of a ventricular extrasystole or a transient AV block. Discussion: This case report illustrates that the administration of adenosine intravenously during pregnancy could have an effect on the foetal conduction system. Therefore, further investigation to assess the electrophysiological effect of adenosine on the foetal electrocardiogram seems required

Pharmacological cardioversion of supraventricular tachycardia in pregnancy during continuous electrophysiological foetal monitoring : a case report

BACKGROUND: Maternal tachycardia is the most frequently occurring cardiac complication during pregnancy. Often administration of drugs is required as a treatment. The drug of choice is intravenously administered adenosine because it is considered safe, though there are limited studies regarding safety for the foetus with the use of adenosine. CASE SUMMARY: We report a conversion of maternal atrio-ventricular (AV) nodal reentry tachycardia during pregnancy with the use of intravenous adenosine whilst continuous electrophysiological foetal monitoring. Four seconds after the maternal conversion, the foetal tracing suggests the presence of a ventricular extrasystole or a transient AV block. DISCUSSION: This case report illustrates that the administration of adenosine intravenously during pregnancy could have an effect on the foetal conduction system. Therefore, further investigation to assess the electrophysiological effect of adenosine on the foetal electrocardiogram seems required