Background: Brugada syndrome is a potentially serious channelopathy that usually presents in adulthood and has only rarely been described in infancy. In the absence of metabolic or structural cardiac disease, rapid ventricular tachycardia (>200 bpm) and primary cardiac conduction disease are uncommon in infancy. We hypothesized that infants having rapid ventricular tachycardia and conduction abnormalities and not having structural or metabolic pathogeneses were likely to have mutations in depolarizing current channels.
Methods And Results: A retrospective review of all clinical materials from a single institution over a 9-year period from all infants <2 years old and having a discharge diagnosis of ventricular tachycardia or ventricular fibrillation was performed. Among 32 infants fulfilling inclusion criteria, 12 had a structurally normal heart, and 9 of them had either prolonged QRS duration or Brugada pattern while in sinus rhythm. Of those 5 infants not having a definitive pathogenesis, electrophysiological testing had been performed in 4, and genetic testing had been performed in all 5 of those infants. During electrophysiological testing, a prolonged HV interval was present in 2 of 4, inducible ventricular tachycardia was present in 1 of 4, and a type 1 Brugada pattern was induced by intravenous procainamide in 3 of 4. Genetic testing revealed disease-causing mutations in depolarizing sodium (SCN5A) or calcium (CaCNB2b) channels in all 5 infants.
Conclusions: Infants having rapid ventricular tachycardia and conduction abnormalities in the absence of structural or metabolic abnormalities are likely to have disease-causing mutations in cardiac depolarizing channels.
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http://dx.doi.org/10.1161/CIRCULATIONAHA.111.054007 | DOI Listing |
Biomaterials
January 2025
Department of Biomedical Engineering, The University of Texas at Austin, Austin, TX, 78712, USA. Electronic address:
Direct pacing of the mid myocardium where re-entry originates can be used to prevent ventricular arrhythmias and circumvent the need for painful defibrillation or cardiac ablation. However, there are no pacing electrodes small enough to navigate the coronary veins that cross these culprit scar regions. To address this need, we have developed an injectable ionically conductive hydrogel electrode that can fill the epicardial coronary veins and transform them into flexible electrodes.
View Article and Find Full Text PDFIndian J Crit Care Med
January 2025
Clinical Research Associate, Zuventus Healthcare Limited, Mumbai, Maharashtra, India.
Aim And Background: To assess the efficacy and safety of Ibutilide infusion for cardioversion of atrial fibrillation (AF) or flutter (AFL) to sinus rhythm.
Materials And Methods: This open-label, multicenter phase IV study was conducted at six sites across India. The study enrolled 120 patients (108 with AF, 12 with AFL), each receiving up to two, 10-minute intravenous doses of 1.
Mol Genet Metab Rep
March 2025
Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA.
Background: The current standard of care for infantile-onset Pompe disease (IOPD), a severe form of acid α-glucosidase enzyme activity deficiency is: (1) detection by newborn screening, (2) early initiation of intravenous enzyme replacement therapy (ERT) using recombinant human acid alpha-glucosidase (rhGAA), with higher doses of rhGAA increasingly used to improve clinical outcomes, and (3) immune tolerization induction (ITI) using to prevent anti-rhGAA antibody formation, with methotrexate (MTX), rituximab, and IVIG used for patients who are cross-reactive immunologic material negative (CRIM-) and monotherapy with MTX used in patients who are cross-reactive immunologic material positive (CRIM+).
Objectives/methods: A pilot study evaluates a dose-intensive therapy (DIT) using high-dose ERT (40 mg/kg/week) and more frequent exposure to ERT (i.e.
J Innov Card Rhythm Manag
December 2024
Arrhythmia Unit, Department of Cardiology, University Hospital Clinico Lozano Blesa, Zaragoza, Spain.
Our study evaluated the efficacy and feasibility of left bundle branch area pacing (LBBAP) compared to right ventricular outflow tract septal pacing (RVOSP). We conducted a prospective, single-center, observational study involving 200 consecutive patients who required pacemaker implantation. The patients were divided into two groups (LBBAP and RVOSP), with 100 patients in each group.
View Article and Find Full Text PDFTurk Kardiyol Dern Ars
January 2025
Department of Cardiology, Gülhane Faculty of Medicine, University of Health Sciences, Ankara, Türkiye.
Severe mitral regurgitation (MR) following surgical repair of the mitral valve poses a significant clinical challenge. Patients who have undergone surgery are typically at high risk for a second operation. This report details the case of a 54-year-old male who underwent aortic valve replacement and mitral valve repair using a 34-ring, 14 years prior.
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