Jodie Ingles

Description:In the article by Meisner et al, “Low Penetrance Sarcomere Variants Contribute to Additive Risk in Hypertrophic Cardiomyopathy,” which published online on December 5, 2024, and appears in the March 18, 2025, issue of the journal (Circulation. 2025;151:783–798. DOI: 10.1161/CIRCULATIONAHA.124.069398), a correction to the author list is needed. The authors notified the Editorial office that an author was mistakenly omitted from the author list. Iacopo Olivotto, MD has been added as an author. Dr Olivotto is a consultant for Bristol Myers Squibb, Amicus, Sanofi, Cytokinetics, Bayer, Tenaya, Rocket Pharma, and Lexeo.

Description:The NAXCARE (NAXos disease and Cardiocutaneous Assessment and Registry for Evaluation) is a global initiative designed to collect, store, and analyze clinical outcomes data on patients with Naxos disease and related cardiocutaneous syndromes (CCS). This registry aims to fill the gaps in clinical knowledge, enhance treatment approaches, and improve patient outcomes by systematically documenting disease progression, genetic profiles, and patient care pathways. The following methodology outlines the registry's design, data collection protocols, management, security measures, and anticipated contributions to research and clinical practice.

Description:Sudden cardiac arrest (SCA) represents a major cause of premature mortality globally, with an enormous effect on victims, families, and communities. Cardiac arrest prevention should be considered a health priority in Australia. A multi-faceted strategy will include community awareness, improved fundamental mechanistic understanding, preventive strategies, implementation of best-practice resuscitation strategies, secondary risk assessment of family members, and development of (near) real-time registries to inform areas of need and assess the effectiveness of interventions. Challenges of patient access to specialised care and equity within the Australian and New Zealand healthcare system should also be recognised.

Description:Females with hypertrophic cardiomyopathy present at a more advanced stage of the disease and have a higher risk of heart failure and death. The factors behind these differences are unclear. We aimed to investigate sex-related differences in clinical and genetic factors affecting adverse outcomes in the Sarcomeric Human Cardiomyopathy Registry. Cox proportional hazard models were fit with a sex interaction term to determine if significant sex differences existed in the association between risk factors and outcomes. Models were fit separately for females and males to find the sex-specific hazard ratio (HR). After a mean follow-up of 6.4 years, females had a higher risk of heart failure (HR, 1.51 [95% CI, 1.21-1.88]; P=0.0003) but a lower risk of atrial fibrillation (HR, 0.74 [95% CI, 0.59-0.93]; P<0.0001) and ventricular arrhythmia (HR, 0.60 [95% CI, 0.38-0.94]; P=0.027) than males. No sex difference was observed for death (P=0.84). Sarcomere-positive males had higher heart failure (HR, 1.34 [95% CI, 1.06-1.69]) and death risks (HR, 1.48 [95% CI, 1.08-2.04]) not seen in females (HR, 0.85 [95% CI, 0.66-1.08] versus HR, 0.86 [95% CI, 0.71-1.21]). MYBPC3 variants lowered heart failure risk in females (HR, 0.56 [95% CI, 0.41-0.77]) but not in males (HR, 1.29 [95% CI, 0.99-1.67]). A sex difference appeared in moderate (4% to <6%) versus low risk (<4%) European Society of Cardiology hypertrophic cardiomyopathy risk score, with females at moderate risk more prone to ventricular arrhythmia (HR, 3.57 [95% CI, 1.70-7.49]), unobserved in males (HR, 1.13 [95% CI, 0.63-2.03]). We found that clinical and genetic factors contributing to adverse outcomes in hypertrophic cardiomyopathy affect females and males differently. Thus, research to inform sex-specific management of hypertrophic cardiomyopathy could improve outcomes for both sexes.