Silvia G Priori
Dr Kimura and coworkers from Shigai Medical University characterized patients with Andersen Tawil and with CPVT carriers of mutations in the KCNJ2 gene showing that the presence of KCNJ2 mutations did not correlate with the severity of symptoms and with clinical phenotype.
Dr Brondex from Nantes in France followed, over a mean period of 4 years, 90 children with LQTS observing that only 1 patient (untreated) suffered cardiac arrest, 2 had dizziness episodes and 8 had syncope. The study showed that the only factor associated with events is the duration of QT interval, a finding already highlighted by different groups in LQTS patients and demonstrated here to apply also to the pediatric LQTS population.
The study by Dr Aiba and colleagues from Suiba in Japan describes a novel mutation (R526H) in the SCN5A gene. Functional studies showed that this mutation leads to a classical trafficking defect but also presents loss of response to PKA phosphorylation.
Dr Tanaka from Okayama measured the presence of 4-hydroxy 2-hexanl (HHE) ( a metabolite of peroxidation of alpha linolenic acid) in cardiac tissue obtained from heart biopsies in patients with Brugada Syndrome. High levels of HHE, that indicate higher levels of n-3 fatty acids, were associated with fewer episodes of venticular fibrillation.
Dr Berne from Barcelona reported on 91 individuals with suspected diagnosis of Brugada Syndrome , who underwent i.v. drug testing with ajmaline and flecainide in order to compare the efficacy of the two drugs in unmasking the diagnostic TYPE I ECG pattern. The study showed that ajmaline induced a positive ST segment elevation in 24 % of patients while flecainide, in the same patients, induced a Type I ECG only in 13%. The authors conclude by advocating that Ajmaline is superior to flecainide in identifying patients affected by concealed Brugada Syndrome.
Dr Bonny from Bry sur Marne in France evaluated whether inflammation may be a trigger for arrhythmogeneisis in Brugada Syndrome. The authors measured C reactive protein (CRP) in 54 patients with diagnosis of Brugada Syndrome (20 symptomatics; 3 for cardiac arrest and 17 for syncope) and found significantly elevated CRP levels in the symptomatic group versus the asymptomatic group. Overall the session was well attended and informative for clinicians and basic scientists alike suggesting that cross-fertilization between "bench and bedside" is fundamental for the advancement of clinical medicine.
Improving care for patients with channelopathies: what's new?
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