Prenatal diagnosis of glucose-6-phosphatase catalytic subunit 3 deficiency (Dursun syndrome) using whole-exome sequencing: A case report of severe fetal cardiomyopathy in a consanguineous family.
Glucose-6-phosphatase catalytic subunit 3 deficiency, also known as Dursun syndrome, is a rare autosomal recessive disorder characterized by severe congenital neutropenia and variable multisystem malf...
Anesthetic Management of a Pediatric Patient With Carnitine Deficiency: A Case Report.
Carnitine deficiency syndromes are a group of rare metabolic disorders characterized by impaired β-oxidation and increased reliance on glucose during metabolic stress. Published literature on anesthet...
Differential Effects of Tafamidis on Cardiac Remodelling in Transthyretin Amyloid Cardiomyopathy: Evidence From Contemporary Imaging Data.
BACKGROUND: Tafamidis is the only approved disease-modifying therapy for transthyretin amyloid cardiomyopathy (ATTR-CM) in Australia. Although its clinical efficacy is established, its effects on card...
MITF Regulates CFTR Expression to Participate in Myocardial Ischemia-Reperfusion Injury.
BACKGROUND: Myocardial ischemia-reperfusion injury (MIRI) remains a major clinical problem, and its regulatory mechanisms are not fully defined. This study aimed to identify key MIRI-related targets a...
Impact of Severe Postoperative Multi-Organ Dysfunction on Long-Term Outcomes After Modified Morrow Surgery.
BACKGROUND: The modified Morrow surgery is the gold standard surgical treatment for hypertrophic obstructive cardiomyopathy (HOCM). While effective, it carries a risk of postoperative severe multi-org...
Peripartum Cardiomyopathy in a Woman Who Conceived Shortly After Bariatric Surgery: A Case Report.
Peripartum cardiomyopathy (PPCM) is a rare but potentially fatal form of heart failure occurring in the peripartum period without an identifiable cause. We report the case of a 36-year-old woman who c...
Racial outcomes in patients with diabetic cardiomyopathy treated with an aldose reductase inhibitor: the ARISE-HF trial.
BACKGROUND: Racial and ethnic differences in diabetic cardiomyopathy (DbCM) exist, with black and Hispanic participants showing poorer health status. It remains unclear whether these differences affec...
Exploration and prospect of core research hotspots in sepsis-induced myocardial injury based on bibliometrics.
OBJECTIVE: Sepsis-associated myocardial injury (SICM) is one of the most common and severe complications of sepsis. The present study aimed to analyze research trends, collaborative networks, and know...
Knowledge mapping of targeted therapy for hypertrophic cardiomyopathy: A bibliometric analysis of myosin inhibitor research.
BACKGROUND: Targeted therapy using myosin inhibitors represents a groundbreaking advancement in the management of hypertrophic cardiomyopathy (HCM). This study conducts a comprehensive bibliometric an...
Clinical, Transcriptional and Haplotype Characterization of Recurrent MYBPC3 Splice-Site Variants c.1458-1G>A and c.3331-1G>A Associated with Hypertrophic Cardiomyopathy in Northern Italy.
Background: Founder mutations in MYBPC3 may contribute substantially to the genetic burden of hypertrophic cardiomyopathy (HCM) and provide important insights into genotype-phenotype correlations and ...
Epigenetic Mechanisms in Sepsis-Induced Cardiomyopathy: From Pathophysiology to Therapeutic Targets.
Sepsis-induced cardiomyopathy (SICM) is a frequent and clinically important complication of sepsis, characterized by acute and often reversible myocardial dysfunction and associated with poor outcomes...
Chinese Yam Polysaccharides Alleviate Myocardial Ischemia/Reperfusion Injury by Modulating Gut Microbiota, Restoring Mitochondrial Function, and Reducing Oxidative Stress.
Background/Objectives: Myocardial ischemia/reperfusion (I/R) injury remains a critical challenge in cardiovascular disease management. Although Chinese yam polysaccharides (CYPs), the primary bioactiv...
Intestinal Flora and Myocarditis: Potential Mechanisms and Therapeutic Strategies Affecting Disease Progression and Cardiac Function.
Myocarditis is a clinically challenging form of inflammatory heart disease with heterogeneous etiologies, limited diagnostic tools, no targeted therapies, and a substantial risk of progression to hear...
Association of the triglyceride-glucose index with subclinical left ventricular dysfunction in type 2 diabetes mellitus: mediation by myocardial energetic efficiency and resting perfusion.
BACKGROUND: The triglyceride-glucose(TyG) index, a surrogate marker of insulin resistance, has been linked to cardiac dysfunction; however, its underlying associated pathways in patients with type 2 d...
A 46-Year-Old Man Presenting With Chest Pain Due to Apical Hypertrophic Cardiomyopathy (Yamaguchi Syndrome) Diagnosed by Multimodal Cardiac Imaging.
BACKGROUND Apical hypertrophic cardiomyopathy (ApHCM), also known as Yamaguchi syndrome, is a rare variant of hypertrophic cardiomyopathy characterized by the thickening of the left ventricle apex (>1...
Transcript-aware rare genetic variant association analyses of cardiopulmonary traits in participants from the All of Us Research Program.
Gene-based rare variant analyses often lack statistical power and may overlook transcript-specific effects. Here, we present a transcript-aware aggregation framework. In simulation studies, the framew...
[Research progress in Lyme carditis].
莱姆病是由蜱虫传播、伯氏疏螺旋体感染所致的自然疫源性疾病，莱姆病心脏炎是其严重的心血管并发症，发生率为1%~10%。该病以房室传导阻滞及心肌炎症为主要表现，主要累及心脏传导系统，可引发心律失常甚至猝死。诊断需结合流行病学史、临床症状与血清学检测，推荐采用“酶免疫分析联合C6肽检测、心电图初筛，蛋白免疫印迹法最终确证”的流程，并注意与病毒性心肌炎等疾病鉴别。2024年美国疾病控制与预防中心/欧洲心脏...
[Research progress of mitochondria-associated endoplasmic reticulum membranes in sepsis-induced cardiomyopathy].
线粒体相关内质网膜（MAMs）是线粒体与内质网通过物理接触形成的特殊功能结构域，介导两大细胞器间的物质转运与信息交流，在空间分布与生物学功能上均实现高度偶联。脓毒症心肌病是脓毒症进程中出现的可逆性心肌功能损伤。现有研究表明MAMs可通过调控钙信号传导、自噬、线粒体动力学、内质网应激及炎症等关键通路，参与脓毒症心肌病的发生与发展。该文就MAMs的结构特征、生物学功能及其在脓毒症心肌病中的作用机制作一...
Tnxb Alleviates Myocardial Ischemia-Reperfusion Injury Through Facilitating Akt-Dependent Endothelial Cell Survival and Angiogenesis in Mice.
Tenascin-X (Tnxb) is a large extracellular matrix protein that has been associated with atherosclerosis. The objective of this study was to investigate the effect of Tnxb and its contribution to recov...
Ubiquitin-Related Proteostatic Programs in Cycling Fibroblast-Lineage Remodeling After Myocardial Ischemic Injury: A Hypothesis Informed by Single-Cell and Spatial Transcriptomics.
Myocardial ischemia and reperfusion initiate spatially organized injury-repair programs that subsequently shape ventricular remodeling. Although cardiac fibroblasts are indispensable for scar formatio...