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Background Limited fluoroscopy ablation using 3D electro-anatomical system (3DS) has been used for arrhythmias in children, however it is not a common practice. We aimed to facilitate a fluoroscopy limited approach for ablation of accessory pathways (AP) in children. Methods Following electrophysiologic (EP) catheter placement a single dual-plane fluoroscopic image (right anterior oblique-30° and left anterior oblique-60° views) was acquired and the 3DS views were rotated to be a perfect match to the fluoroscopy. Ninety-four consecutive pediatric patients [mean age 11.8 ± 4.1 (4.2–18) years, 61.7% males] with Wolf–Parkinson–White syndrome underwent ablation of an AP. Fifty-seven had manifest AP, 54 had left-sided AP (LSAP) and 40 had right-sided AP (RSAP). Results The acute success rate was 95.7% (90/94), with a recurrence rate of 1.1% (1/90) at a mean follow-up of 13 ± 5.5 (4.4–22.9) months. Mean procedure and fluoroscopy times were 144 ± 45 (55–262) min and 1.8 ± 1.4 (0.1–5.6) min, respectively. Comparison of the first 20 procedures to the next 74 procedures demonstrated an extended procedure time (171 ± 53 min vs 135 ± 38 min, p

Because of its safety profile, cryoablation has become an alternative therapy for septal arrhythmias, including parahisian accessory pathways (APs). Data regarding its efficacy, safety, and late outcome for parahisian APs in children are limited.The purpose of this study was to evaluate the safety and efficacy of cryoablation of parahisian APs in children.Fifty-nine cryoablations of parahisian APs were performed in 50 patients [76% males; median age 16.5 years (range 5.3-20 years)]. Thirty-three had manifest APs and 17 had concealed APs. The time to effect was defined as the duration of time from reaching -30°C to the disappearance of AP during the cryomapping phase. The acute success rate for the first ablation was 94% (47/50).Mean fluoroscopy time and number of cryoablations were 28.5 ± 23.3 minutes and 2.6 ± 1.2 seconds, respectively. The time to effect was 8.5 ± 7.1 seconds. The overall recurrence rate was 14.9%, decreasing from 40% in the first 10 cases to 8.1% in the next 37 (P.02). Multivariate analysis showed that the only independent predictor for recurrence rate was time to effect10 seconds (P.001). A high recurrence rate was also associated with concealed APs and ablation during supraventricular tachycardia (P.03 and P.05, respectively). The patients who had recurrence underwent a second successful cryoablation. During median follow-up of 59.7 months (range 6-102 months), a long-term success rate of 94% was achieved. No permanent ablation-related complications occurred.Cryoablation of parahisian APs has excellent short- and long-term efficacy and safety profile. Increased physician experience is associated with a reduced recurrence rate.

Background Limited fluoroscopy cryo-ablation using a 3D electro-anatomical system (3DS) has been used for AVNRT in children. We aimed to facilitate a fluoroscopy limited approach of RF ablation of AVNRT in children. Methods A retrospective study was performed of procedure parameters in children undergoing RF ablation of AVNRT in 75 consecutive children (June 2011 to November 2013 — Group A) using standard fluoroscopy techniques compared to those of 64 consecutive children (December 2013 to May 2015 — Group B), using a fluoroscopy limited approach with 3DS. Results The acute success rate was 98.7% (74/75) and 98.4% (63/64) for groups A and B, respectively. The recurrence rate was 2.7% (2/74) and 0% (0/63) with a mean follow-up period of 45.5±12.1 and 14.3±6.1months for group A and group B, respectively. The mean procedure and fluoroscopy times were significantly lower for group B compared to group A (119±37 (43–203) and 0.83±1.04 (0.05–3.83) minutes versus 146±53 (72–250) and 16.1±8.9 (4.39–55) minutes, p p Conclusions A fluoroscopy limited approach for RF ablation of AVNRT in children using a 3DS is easily acquired and adapted, and significantly reduces the fluoroscopy and procedure time with excellent efficacy, safety and low recurrence rate. Condensed ABSTRACT This study confirmed that a 3D mapping system (3DS) to guide ablations of AVNRT in children reduces radiation exposure. Combined, limited fluoroscopy and 3DS in a methodology that resembles the familiar conventional fluoroscopy approach for RF ablation of AVNRT in children is proposed. Combined limited fluoroscopy and RF-energy in children with AVNRT are associated with a shorter procedure time, minimal fluoroscopy time, a high success rate and a low recurrence rate.

Homozygosity mapping was performed in a consanguineous Sephardic Jewish family with three patients who presented with severe infantile encephalopathy associated with pontocerebellar hypoplasia and multiple mitochondrial respiratory-chain defects. This resulted in the identification of an intronic mutation in RARS2, the gene encoding mitochondrial arginine-transfer RNA (tRNA) synthetase. The mutation was associated with the production of an abnormally short RARS2 transcript and a marked reduction of the mitochondrial tRNA(Arg) transcript in the patients' fibroblasts. We speculate that missplicing mutations in mitochondrial aminoacyl-tRNA synthethase genes preferentially affect the brain because of a tissue-specific vulnerability of the splicing machinery.

Background Significant advancements in understanding the molecular pathophysiology of laterality determination were recently made. However, there are large gaps in our knowledge of the initial processes that lead to laterality defects, such as heterotaxy syndrome (HS, also known as situs ambiguous) and situs inversus totalis (SIT). The former refers to abnormal distribution of visceral organs, and the latter refers to a complete laterality inversion of both abdominal and thoracic viscera. Methods In order to identify a mutated gene in SIT and HS patients, the authors performed homozygosity mapping in a consanguineous family with laterality disorders identified in two siblings. Results A homozygous deleterious mutation in the CCDC11 gene was identified in the patients. The mutation resulted in an abnormally smaller protein in the patient9s skin fibroblasts. The parents and five healthy siblings were heterozygous for the mutation, which was not present in 112 anonymous controls. Conclusions Few genes have been associated with both SIT and HS, usually accompanied by other abnormalities. The authors suggest that CCDC11 is associated with autosomal recessive laterality defects of diverse phenotype resulting in SIT in one individual family member who is otherwise healthy, and in complex laterality anomalies (HS) in another member. This report underscores the importance of CCDC11 in laterality determination.

This is a report of a child with Brugada syndrome who experienced ventricular fibrillation storm. Initial presentation was atrial fibrillation without the Brugada-type electrocardiogram, aborted cardiac arrest and positive family history of sudden death.