Correction to: Low Penetrance Sarcomere Variants Contribute to Additive Risk in Hypertrophic Cardiomyopathy.Circulation • March 17, 2025
Joshua Meisner, Aaron Renberg, Eric Smith, Yao-chang Tsan, Brynn Elder, Abbey Bullard, Owen Merritt, Sean Zheng, Neal Lakdawala, Anjali Owens, Thomas Ryan, Erin Miller, Joseph Rossano, Kimberly Lin, Brian Claggett, Euan Ashley, Michelle Michels, Rachel Lampert, John Stendahl, Dominic Abrams, Christopher Semsarian, Victoria Parikh, Matthew Wheeler, Jodie Ingles, Iacopo Olivotto, Sharlene Day, Sara Saberi, Mark Russell, Michael Previs, Carolyn Ho, James Ware, Adam Helms
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.
Clinical Validity of Autosomal Dominant ALPK3 Loss-of-Function Variants as a Cause of Hypertrophic Cardiomyopathy.Circulation. Genomic And Precision Medicine • April 21, 2025
Sophie Hespe, Emma Singer, Chloe Reuter, Brittney Murray, Elizabeth Jordan, Jessica Chowns, Stacey Peters, Megan Mayers, Belinda Gray, Ray Hershberger, Anjali Owens, Christopher Semsarian, Amber Waddell, Babken Asatryan, Emma Owens, Courtney Thaxton, Mhy-lanie Adduru, Kailyn Anderson, Emily Brown, Lily Hoffman Andrews, Fergus Stafford, Richard Bagnall, Lucas Bronicki, Bert Callewaert, C Anwar Chahal, Cynthia James, Olga Jarinova, Andrew Landstrom, Elizabeth Mcnally, Laura Muiño Mosquera, Victoria Parikh, Roddy Walsh, Bess Wayburn, James Ware, Benjamin Parker, Enzo Porrello, David Elliott, James Mcnamara, Jodie Ingles
NAXCARE: a clinical outcome registry for Naxos disease and related cardiocutaneous syndromes.Hellenic Journal Of Cardiology : HJC = Hellenike Kardiologike Epitheorese • April 10, 2025
Adalena Tsatsopoulou, Dominic Abrams, Aris Anastasakis, Loizos Antoniades, Elena Arbelo, Eloisa Arbustini, Euan Ashley, Angeliki Asimaki, Cristina Basso, Eduardo Bossone, Julia Cadrin Turigny, Hugh Calkins, Andreina Carbone, Perry Elliott, Georgios Efthimiadis, Monica Franzese, Alexandra Frogoudaki, Juan Gimeno, John Mcgrath, Jodie Ingles, Juan Kaski, Andre Keren, George Kohiadakis, Emilia Lazarou, George Lazaros, Stamatios Lerakis, Giuseppe Limongelli, Soultana Meditskou, Luisa Mestroni, Ioanna Metaxa, Emanuele Monda, Eustathios Papatheodorou, Despoina Parharidou, Alexandros Patrianakos, Kalliopi Pilichou, Alexandros Protonotarios, Ioannis Protonotarios, Salvatore Rega, Angelos Rigopoulos, Jeffrey Saffitz, Petros Syrris, Matt Taylor, Johannes Peter Van Tintelen, Charalambos Vlachopoulos, Zafeirenia Xylouri, William Mckenna
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.
Cardiac arrest in Australia: a call to action.Australian Health Review : A Publication Of The Australian Hospital Association • February 11, 2025
Elizabeth Paratz, Garry Jennings, Susan Timbs, Janet Bray, Jodie Ingles, Greg Page, Jamie Vandenberg, Andre La Gerche
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.
Sex-Specific Clinical and Genetic Factors Associated With Adverse Outcomes in Hypertrophic Cardiomyopathy.Circulation. Genomic And Precision Medicine • anuary 24, 2025
Alexandra Butters, Clare Arnott, Joanna Sweeting, Brian Claggett, Anna Cuomo, Dominic Abrams, Euan Ashley, Sharlene Day, Adam Helms, Rachel Lampert, Kim Lin, Michelle Michels, Erin Miller, Iacopo Olivotto, Anjali Owens, Victoria Parikh, Alexandre Pereira, Joseph Rossano, Thomas Ryan, Sara Saberi, John Stendahl, James Ware, John Atherton, Christopher Semsarian, Neal Lakdawala, Carolyn Ho, Jodie Ingles
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.
