Genetic factors are estimated to cause approximately 30%–50% of dilated cardiomyopathy (DCM) cases, with Titin (TTN) being the most commonly implicated gene, accounting for 20%–25% of genetic causes. Many DCM-causing TTN mutations are heterozygous truncating variants, including frameshift, non-sense, and essential splice site mutations. SCN5A mutations are associated with arrhythmias, while pathogenic variants in the low-density lipoprotein receptor (LDLR) gene are associated with familial hypercholesterolemia. Here, we report a case of DCM with a novel TTN variant, as well as two rare variants in the SCN5A and LDLR genes. It is rare for a patient to have three rare genetic variations and this may expand the genetic map of DCM and TTN, offering important insights for future studies on their genetic and disease relationships.

Background: The triglyceride-glucose (TyG) index is a reliable marker of insulin resistance, and the atherogenic index of plasma (AIP) reflects atherosclerosis. However, the relationship between these biomarkers—particularly AIP—and coronary microvascular dysfunction (CMD) in hypertensive patients has not been systematically studied. This study investigates the association between TyG, AIP, and CMD in hypertensive individuals. Methods: We included 155 hypertensive patients with coronary anatomy confirmed by coronary angiography (CAG) or computed tomography angiography (CTA) within six months of SPECT imaging. CMD was diagnosed with a summed stress score (SSS) ≥ 4 and a summed difference score (SDS) ≥ 2. Patients were stratified into tertiles by TyG index and AIP. Logistic regression, adjusted for traditional cardiovascular risk factors, was used to explore the relationship with CMD. The predictive value of TyG and AIP was assessed using receiver operating characteristic (ROC) curves, and decision curve analysis (DCA) evaluated their clinical benefit. Results: Logistic regression revealed that both TyG and AIP were independently associated with coronary artery disease (CAD) (P< 0.05 for both). The area under the ROC curve (AUC) for TyG, AIP, and their combined predictive capacity for CMD was 0.744, 0.707, and 0.748, respectively (P< 0.001 for all). The optimal cutoff values for TyG and AIP were 7.012 and 0.5175, respectively. Combining both biomarkers enhanced clinical decision-making and patient benefit. Conclusion: Higher levels of TyG and AIP are significantly associated with an increased risk of CMD in hypertensive patients. Both biomarkers exhibit strong predictive value, with AIP showing greater specificity and TyG higher sensitivity. Their combined use can improve clinical decision-making and patient outcomes.

An estimated 30%–50% of dilated cardiomyopathy (DCM) cases are attributable to genetic factors, with titin (TTN) mutations constituting the most prevalent genetic etiology, accounting for 20%–25% of hereditary DCM cases. The majority of pathogenic TTN variants are heterozygous truncating mutations (TTNtv), including frameshift, nonsense, and canonical splice-site variants. Alport syndrome (AS) represents the second most common monogenic cause of end-stage kidney disease (ESKD). While COL4A5 gene variants cause X-linked AS, mutations in COL4A3 or COL4A4 genes (both located on chromosome 2) are associated with autosomal recessive AS, autosomal dominant AS, and thin basement membrane nephropathy. We present a unique case featuring both a novel TTN variant and a rare COL4A4 mutation in a DCM patient. This dual rare variant presentation is clinically exceptional and may contribute to expanding the genetic landscape of DCM and informing future investigations into genotype-phenotype correlations between TTN mutations and DCM pathogenesis.

Objective: To describe the prevalence of self-reported coronary heart disease (CHD) and assess the influence of varied risk factors on it in Tianjin. Methods: This study included a total of 102,576 individuals aged 35 to 75 from 13 community health centers and grassroots hospitals in Tianjin. Basic information, questionnaire responses, physical examinations, and laboratory tests of each participant were researched, and documented. Participants were categorized into CHD group and non-CHD group. Multivariate logistic regression was utilized to evaluated the relationships between associated factors and CHD. Results: The prevalence of self-reported CHD was 2.56%, 3.97% among men and 1.69% among women. In multivariate logistic regression analysis, older age (41-65 years: OR: 7.37, 95% CI: 4.56-11.94; >65 years: OR:17.88, 95% CI: 11.02-29.01), female sex (OR: 0.40, 95% CI: 0.36-0.44), education (sedentary level: OR: 0.88, 95% CI: 0.79-0.97; high level: OR: 0.74, 95% CI: 0.63-0.87), family annual income (10,000-50,000 yuan: OR: 0.68, 95% CI: 0.60-0.77; >50,000 yuan: OR: 0.71, 95% CI: 0.62-0.82), recently drinking habits (2-4 times /month: OR: 0.75, 95% CI: 0.63-0.90; 2-3 times/week: OR: 0.69, 95% CI: 0.56-0.86; >4 times/week: OR: 0.72, 95% CI: 0.63-0.83), obesity (OR: 1.17, 95% CI: 1.07-1.28), central obesity (OR: 1.51, 95% CI: 1.33-1.71), hypertension (OR: 1.60, 95% CI: 1.43-1.80), dyslipidemia (OR: 0.90, 95% CI: 0.83-0.98), diabetes mellitus (OR: 2.02, 95% CI: 1.85-2.19), stroke (OR: 1.42, 95% CI: 1.24-1.63), family history (CVD: OR: 4.48, 95% CI: 4.00-5.01; stroke: OR: 1.83, 95% CI: 1.58-2.12) were associated with CHD (P < 0.05). Conclusion: These findings highlight growing concerns regarding the escalating rates of CHD. Implementing multifaceted, population-based interventions is crucial to mitigate the burden of cardiovascular conditions. Clinical Trial Registry Number: The study received approval from the Ethics Committee of Tianjin Chest Hospital (approval number: 2018KY-003-01). Written informed consent was obtained from all survey participants.

Hypertrophic cardiomyopathy (HCM) is an autosomal dominant primary myocardial disease, primarily caused by pathogenic variants in genes encoding sarcomere-associated proteins. Among these, the cardiac myosin-binding protein C (MYBPC3) gene and the MYH7 gene are the two most common causative genes in patients with HCM, accounting for approximately 70% of cases with positive genetic variants. In patients with HCM, left ventricular aneurysm has been reported in fewer than 5% of cases in the absence of coronary artery disease. Variants in the KCNJ5 gene often lead to familial hyperaldosteronism type III and long QT syndrome type 13. Here, we report a rare case of HCM complicated by an apical ventricular aneurysm, accompanied by novel mutations in MYBPC3 and KCNJ5. This rare case, featuring two novel genetic variants, will help expand research on the genotype–phenotype relationship in hypertrophic cardiomyopathy.