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Improving care for patients with channelopathies: what's new?

  • Phenotype variability in patients carrying KCNJ2 mutations, presented by H Kimura (Otsu, JP) - Slides
  • Clinical outcome and therapeutic strategies in non proband children with genetically confirmed LQTS, presented by A Brondex (Metz, FR) - Slides
  • Mechanism of the Brugada Syndrome: a novel loss of cAMP-dependent protein kinase A-mediated Na channel Phosphorylation, presented by T Aiba (Suita, JP)
  • N-3 fatty acids is associated with preventing ventricular arrhythmia in patients with brugada-type electrocardiogram, presented by M Tanaka (Okayama, JP)
  • Comparison of efficacy and safety of intravenous ajmaline vs. intravenous flecainide for the diagnosis of brugada syndrome among first-degree family members, presented by P Berne (Barcelona, ES)
  • Value of C-reactive protein in patients with asymptomatic and symptomatic Brugada syndrome, presented by A Bonny (Bry Sur Marne, FR) - Slides
Basic Sciences, Pharmacology, Genomics and Cardiovascular Pathology

Severity of KCNJ2 mutations does not predict clinical manifestations

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.

QT interval duration is predictor of cardiac events in LQTS children

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.

A novel SCN5A mutations in Brugada syndrome leads to loss of response to PKA

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.

n-3 fatty acids may prevent arrhythmias in Brugada Syndrome

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.

Ajmaline is superior to flecainide to unmask Brugada Syndrome

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.

Inflammation contribute to modulate phenotype in 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?

The content of this article reflects the personal opinion of the author/s and is not necessarily the official position of the European Society of Cardiology.