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Background: Ellis-van Creveld syndrome (EvC) is a recessive disorder characterised by acromesomelic limb shortening, postaxial polydactyly, nail-teeth dysplasia and congenital cardiac defects, primarily caused by pathogenic variants in EVC or EVC2 . Weyers acrofacial dysostosis (WAD) is an ultra-rare dominant condition allelic to EvC. The present work aimed to enhance current knowledge on the clinical manifestations of EvC and WAD and broaden their mutational spectrum., Methods: We conducted molecular studies in 46 individuals from 43 unrelated families with a preliminary clinical diagnosis of EvC and 3 affected individuals from a family with WAD and retrospectively analysed clinical data. The deleterious effect of selected variants of uncertain significance was evaluated by cellular assays., Main Results: We identified pathogenic variants in EVC/EVC2 in affected individuals from 41 of the 43 families with EvC. Patients from each of the two remaining families were found with a homozygous splicing variant in WDR35 and a de novo heterozygous frameshift variant in GLI3 , respectively. The phenotype of these patients showed a remarkable overlap with EvC. A novel EVC2 C-terminal truncating variant was identified in the family with WAD. Deep phenotyping of the cohort recapitulated 'classical EvC findings' in the literature and highlighted findings previously undescribed or rarely described as part of EvC., Conclusions: This study presents the largest cohort of living patients with EvC to date, contributing to better understanding of the full clinical spectrum of EvC. We also provide comprehensive information on the EVC / EVC2 mutational landscape and add GLI3 to the list of genes associated with EvC-like phenotypes., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2024. No commercial re-use. See rights and permissions. Published by BMJ.)

Safety culture is one of the requirements for preventing the occurrence of adverse effects. However, this has not been studied in the field of cardiology. The aim of this study is to evaluate the safety culture in a cardiology unit that has implemented and certified an integrated quality and risk management system for patient safety., Methods: A cross-sectional observational study was conducted in 2 consecutive years, with all staff completing the Spanish version of the questionnaire, "Hospital Survey on Patient Safety Culture" of the "Agency for Healthcare Research and Quality", with 42 items grouped into 12 dimensions. The percentage of positive responses in each dimension in 2014 and 2015 were compared, as well as national data and United States data, following the established rules., Results: The overall assessment out of a possible 5, was 4.5 in 2014 and 4.7 in 2015. Seven dimensions were identified as strengths. The worst rated were: staffing, management support and teamwork between units. The comparison showed superiority in all dimensions compared to national data, and in 8 of them compared to American data., Conclusions: The safety culture in a Cardiology Unit with an integrated quality and risk management patient safety system is high, and higher than nationally in all its dimensions and in most of them compared to the United States., (Copyright © 2017 Instituto Nacional de Cardiología Ignacio Chávez. Publicado por Masson Doyma México S.A. All rights reserved.)

Introduction and Objectives: Dronedarone and flecainide are the first pharmacological choice to reduce recurrence of atrial fibrillation (AF); however, there are no studies comparing them. A study was performed to compare the efficacy in terms of recurrence of AF and safety of both drugs., Methods: A retrospective cohort study was conducted that included 123 consecutive patients treated with flecainide or dronedarone due to paroxysmal AF (76.4%) or persistent AF (23.6%), from October 2010 to February 2013. Electrical cardioversion was performed in 7.3% of patients and pharmacological cardioversion in 16.3%. The median (interquartile range) follow-up was 301days (92-474) with a mean of 2.8 reviews per patient. Time to first event analysis was performed using Kaplan-Meier and Cox regression, adjusted for propensity score., Results: Of the 123 consecutive patients with AF included, 71 were on dronedarone and 52 on flecainide. During the follow-up, there were 36 AF recurrences and 20 safety events. There were recurrences in 36.6% of patients treated with flecainide, compared with 21% of those receiving dronedarone (P=.073). Dronedarone showed to be at least as effective as flecainide in preventing recurrence of atrial fibrillation (HR: 0.53, 95% CI: 0.20-1.44, P=.221), and demonstrated an acceptable safety profile when compared with flecainide (HR: 0.68, 95% CI: 0.18-2.53, P=.566)., Conclusions: In our experience, dronedarone has been at least as effective and safe as flecainide, despite it was most frequently prescribed in patients with worse baseline risk profile., (Copyright © 2017 Instituto Nacional de Cardiología Ignacio Chávez. Publicado por Masson Doyma México S.A. All rights reserved.)