Hypertrophic cardiomyopathy (HCM) is the most common inherited heart disease often caused by sarcomeric gene mutations. MYBPC3 is one of the most common genes associated with HCM. In this study, we generated a human induced pluripotent stem cell line ZZUNEUi028-A from a 19-year-old male HCM patient with c. 1504C → T in MYBPC3 gene using non-integrative Sendai viral reprogramming technology. This cell line expresses pluripotency markers, exhibits a normal male karyotype (46, XY) and can differentiate into all three germ layers in vitro. ZZUNEUi028-A can serve as a cell disease model in the understanding of HCM pathogenesis.
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http://dx.doi.org/10.1016/j.scr.2022.102848 | DOI Listing |
Sci Rep
January 2025
Division of Cardiology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Republic of Korea.
Myocyte disarray and fibrosis are underlying pathologies of hypertrophic cardiomyopathy (HCM) caused by genetic mutations. However, the extent of their contributions has not been extensively evaluated. In this study, we investigated the effects of genetic mutations on myofiber function and fibrosis patterns in HCM.
View Article and Find Full Text PDFSports Med
January 2025
Department of Sports Medicine, Pontchaillou Hospital, Rennes, France.
Background: Although many studies have demonstrated a lower incidence of sudden cardiac arrest or death (SCA/D) in female athletes than in male, there is limited understanding of the specific underlying causes.
Objective: This systematic review aimed to assess the disparities in SCA/D incidence between male and female competitive athletes and explore the associated etiologies.
Methods: A comprehensive search was conducted for retrospective and prospective studies examining SCA/D incidence in male and female athletes.
Monaldi Arch Chest Dis
December 2024
Cardiology Division, Regina Montis Regalis Hospital, ASLCN1, Mondovì.
We presented a case of a 49-year-old presenting with atypical chest pain and hypertrophic phenotype cardiomyopathy without coronary artery disease. At cardiac magnetic resonance (CMR), the left ventricle was of normal volumes and preserved global ejection fraction with an asymmetric wall hypertrophy. The evaluation of native myocardial T1 has been calculated at an average global value of 924 ms, compatible with hypertrophic phenotype cardiomyopathy with reduced native T1 values as observed in Anderson-Fabry disease.
View Article and Find Full Text PDFEur Heart J Qual Care Clin Outcomes
January 2025
William Harvey Research Institute, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.
Aims: In light of recent advances in imaging techniques, molecular understanding and therapeutic options in hypertrophic cardiomyopathy (HCM), we performed a systematic review of current guidelines for the diagnosis and management of HCM in order to identify consensus and discrepant areas in the clinical practice guidelines.
Methods And Results: We systematically reviewed the English language guidelines and recommendations for the management of HCM in adults. MEDLINE and EMBASE databases were searched for guidelines published in the last 10 years.
Catheter Cardiovasc Interv
January 2025
Division of Cardiovascular Diseases, Bridgeport Hospital, Yale New Haven Health, Bridgeport, Connecticut, USA.
Background: The co-existence of severe aortic stenosis (AS) and hypertrophic cardiomyopathy (HCM) is not uncommon. Surgical intervention is the gold standard management. Patients with high surgical risk might undergo transcatheter aortic valve replacement (TAVR).
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