Frontiers in Cardiovascular Medicine最新文献

Combined methylmalonic aciduria and homocystinuria, cobalamin C (cblC) type, represents the most common inborn error of cobalamin metabolism, caused by pathogenic variants in the MMACHC gene. We report the case of a 27-year-old Chinese woman who presented with dilated cardiomyopathy and renal insufficiency. Blood amino acid and acylcarnitine profiling revealed elevated ratios of propionylcarnitine (C3) to acetylcarnitine (C2) and C3 to free carnitine (C0). Genetic testing identified compound heterozygous pathogenic variants in MMACHC-c.80A > G, p. (Gln27Arg) and c.609G > A, p. (Trp203Ter)-confirming the diagnosis of cblC-type methylmalonic aciduria with homocystinuria. Despite administration of vitamin B12 and betaine, her heart function did not improve. The patient eventually succumbed to severe COVID-19 infection, which led to metabolic acidosis, renal failure, and multi-organ failure. This case underscores the challenging clinical course of late-onset cblC disorder and contributes to its expanding phenotypic spectrum.

Introduction: Telmisartan is a long-acting angiotensin II receptor blocker (ARB) with unique pharmacologic properties, including partial PPAR-γ activation. Its comparative effectiveness against other ARBs in real-world populations remains unclear.

Methods: We conducted a retrospective cohort study using the TriNetX Global Collaborative Network, including hypertensive patients aged 55-85 years without prior stroke, heart failure, or myocardial infarction. After 1:1 propensity score matching, 41,598 patients were included in each group.

Results: Telmisartan use was associated with a significantly lower risk of stroke (HR 0.805, 95% CI 0.751-0.863), heart failure (HR 0.75, 95% CI 0.672-0.836), and all-cause mortality (HR 0.59, 95% CI 0.542-0.642) compared to other ARBs. Subgroup analyses showed consistent benefits across sex, diabetes, chronic kidney disease, and hyperlipidemia.

Conclusions: In this large real-world matched cohort of over 83,000 patients, telmisartan was associated with superior cardiovascular and cerebrovascular outcomes compared to other ARBs, supporting its potential as a preferred antihypertensive agent in high-risk populations.

Sudden cardiac death (SCD) causes 180,000-360,000 annual deaths in the United States, with mortality rates exceeding 90%. Despite advances in resuscitation science, predicting SCD remains challenging due to inconsistent definitions, subtle warning signs, and temporal variability in risk factors. While traditional cardiovascular conditions are well-integrated into risk prediction models, non-cardiovascular comorbidities remain significantly underutilized despite contributing to nearly 40% of SCD cases. This review examines evidence linking various systemic conditions to SCD risk. Neurologic disorders including epilepsy (1.6-5.89-fold increased risk), depression (1.6-2.7-fold), and anxiety (1.6-fold) elevate SCD vulnerability through autonomic dysregulation and medication effects. Respiratory conditions like COPD (1.3-3.6-fold) and obstructive sleep apnea (1.6-2.6-fold) contribute through chronic hypoxemia and inflammation. Hepatic pathology, kidney disease, anemia, and endocrine disorders (particularly diabetes with 1.7-2.4-fold risk) also demonstrate significant associations. Critically, non-cardiovascular comorbidities predict not only SCD occurrence but also initial cardiac rhythm presentation-essential for determining implantable cardioverter-defibrillator candidates, as these devices only benefit shockable rhythms. Conditions like epilepsy, depression, COPD, liver cirrhosis, and chronic kidney disease correlate with predominantly non-shockable presentations. Current prediction models incorporate few non-cardiac conditions, primarily due to historical cardiac-centric approaches, sample size constraints, complex disease interactions, and overfitting concerns. Proposed solutions include multidisciplinary research collaboration, multicenter data pooling, and advanced machine learning techniques to develop more comprehensive and accurate SCD prediction algorithms.

The management of ischemic heart disease has evolved from a narrow focus on low-density lipoprotein cholesterol (LDL-C) reduction to a comprehensive strategy targeting the regression and stabilization of coronary atherosclerotic plaque. Intravascular imaging modalities, including intravascular ultrasound (IVUS), optical coherence tomography (OCT), and near-infrared spectroscopy (NIRS), have been instrumental in characterizing the temporal sequence of plaque modification in response to lipid-lowering therapy. This review synthesizes evidence demonstrating that the effects on plaque are both time-dependent and agent-specific. Statins induce rapid plaque stabilization within weeks to months via mechanisms such asanti-inflammatory effects, fibrous cap thickening, and reduction of the lipid core. With prolonged treatment (months to years), statins promote plaque volume regression and facilitate a favorable shift in plaque composition towards a more stable, calcified phenotype. Non-statin agents further augment this regression. Ezetimibe, in combination with statins, provides synergistic LDL-C lowering and enhances plaque volume reduction. PCSK9 inhibitors, recognized as one of the most potent lipid-lowering agents currently available, have been shown in several studies to promote the regression of atherosclerotic plaques and reduce plaque volume. However, their effects on plaque composition-such as calcification, fibrous tissue, fibrofatty tissue, and necrotic core-remain controversial.

Introduction: Heart failure (HF) poses a substantial global health burden due to its high prevalence and severe clinical outcomes. Early diagnosis is critical to optimize management and reduce the economic impact of HF. This scoping review consolidates existing knowledge on strategies to improve HF diagnosis, emphasizing the utility of biomarkers, imaging techniques, artificial intelligence (AI), and care pathways.

Methods: A systematic search of PubMed/Medline and Scopus databases identified 198 relevant studies published since 2010, focusing on adult populations without a prior HF diagnosis. The inclusion criteria centered on initiatives aimed at enhancing diagnostic processes.

Results: Results indicate that biomarkers, particularly natriuretic peptides such as N-terminal prohormone of BNP (NT-proBNP), are central to early HF detection, showing high sensitivity. Emerging biomarkers, like microRNAs, offer potential for improved diagnostic accuracy. Imaging techniques, including echocardiography and lung ultrasound, remain primary tools for assessing cardiac function, while AI applications in imaging and electronic health records represent a rapidly evolving field. These tools show promising potential for early identification of HF patients, although most require further validation and standardization before routine clinical implementation. Care pathways emphasizing high-resolution consultations and integrated diagnostic tools enable prompt HF diagnosis, crucial for initiating early treatments.

Discussion: By implementing these diagnostic strategies, particularly in high-risk populations such as those with comorbid conditions, there is potential to significantly advance patient outcomes and healthcare resource management. Nevertheless, it is essential to translate these advances and discoveries into clinical practice, considering healthcare context and socioeconomic limitations, and promoting international consensus to ensure their global adoption. In conclusion, ongoing research and refinement of these diagnostic tools are imperative to effectively address the growing challenge of HF.

Background and aims: Atrial fibrillation (AF) frequently accompanies rheumatic mitral valve disease (MVD) and adversely affects postoperative outcomes. Radiofrequency ablation (RFA) and cryoablation are commonly used during mitral valve surgery, but their comparative impact on atrial remodeling in this population remains uncertain.

Methods: This retrospective cohort included 100 patients with rheumatic MVD and persistent AF who underwent mitral valve surgery with concomitant cryoablation (n = 50) or RFA (n = 50) between June 2020 and June 2024 at centers in the Almaty region, Kazakhstan. Clinical and echocardiographic parameters were assessed preoperatively, within 48 h postoperatively, and at 6 ± 2 months.

Results: Cryoablation was associated with greater left atrial (LA) volume reduction immediately and at follow-up (both p < 0.001). Multiple linear regression identified ablation modality as the only independent predictor of LA volume reduction (β = 27.9 mL, p < 0.0001), whereas duration of rheumatic disease, BMI, EuroSCORE II, and AF recurrence were not significant. At follow-up, the reduction in right atrial short-axis diameter was smaller after cryoablation (p = 0.049), and stroke volume declined less compared with RFA (-1.2 ± 17.3 mL vs. -7.3 ± 15.8 mL; p = 0.006). Cardiopulmonary bypass time, aortic cross-clamp time, and postoperative symptom improvement were comparable between groups. Freedom from AF during follow-up was also similar (log-rank p = 0.52).

Conclusions: In patients with persistent AF and rheumatic MVD undergoing mitral valve surgery, cryoablation was associated with more pronounced early atrial reverse remodeling and better preservation of stroke volume compared with RFA, without differences in operative efficiency or short-term safety. These findings should be considered hypothesis-generating, and prospective randomized studies with standardized lesion sets are required to confirm modality-specific effects.

Introduction: Two predominant pathways contribute to ischemia reperfusion injury (IRI) following donation after circulatory death (DCD): mitochondrial permeability transition pore (MPTP) opening and Calpain-1 (CPN1) activation. Each pathway has established inhibitors; Cyclosporine A (CyA) and MDL-28170 (MDL), respectively, which are effective in modulating IRI in a DCD heart with 25 min of warm ischemia time (WIT). We studied the effect of co-administering CyA and MDL during reperfusion on infarct size and graft function in DCD rat hearts with extended WIT of 35 min.

Methods: Male rats were exposed to 35 min of warm ischemia followed by 90 min of reperfusion. During reperfusion, hearts were given either 0.5 mM of CyA, 10 mM of MDL, or mixed CyA and MDL. Cardiac function and coronary flow rates were monitored throughout reperfusion and infarct size at the end of reperfusion.

Results: Infarct size in hearts treated with mixed CyA + MDL (31.59 ± 7.1%) was less than that of MDL-treated hearts (33.26 ± 4.3%) but larger than CyA-treated hearts (25.49 ± 5.9%). Graft function and coronary flow rates were variable amongst groups. CyA-treated hearts had more profound infarct size reduction when compared to MDL, and no additional synergistic effect was seen with combination treatment.

Discussion: Our results indicate that MPTP opening contributes significantly to the development of IRI in DCD hearts.

Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac disease and a leading cause of sudden cardiac death (SCD) in young adults and athletes. It exhibits marked clinical variability, which may be influenced by genetic background and environmental factors. Although MYBPC3 is the most frequently implicated gene, data from Latin American and admixed populations remain scarce. In this study, we describe three unrelated Ecuadorian patients with clinically diagnosed HCM who harbored MYBPC3 variants. Two patients carried likely pathogenic mutations (p.Glu258Lys and p.His875Profs*8), while novel missense variants (p.Ala536Pro and p.Thr274Met) were identified as variants of uncertain significance (VUS). Additional variants were detected in TTN, MYLK2, RYR1, SDHA, APOB, and JPH2, but given their classification as VUS or a lack of association with HCM, they are described only as incidental findings. An ancestry analysis revealed heterogeneous contributions of Native American, European, and African backgrounds, reflecting the admixed composition of the Ecuadorian population. This case series underscores the phenotypic heterogeneity of HCM, even among patients with MYBPC3 variants, and highlights the importance of genomic testing in underrepresented populations to improve diagnosis, family screening, and SCD risk stratification.

Objective: To enhance understanding of the diagnosis and management of dual tachycardia in infant.

Methods: A retrospective analysis was conducted on the clinical data and management of a infant with dual tachycardia. A review of the relevant literature was also performed.

Results: A female infant, born 43 min, was transferred to our hospital's NICU via emergency transfer due to "tachycardia lasting over half an hour after premature birth." To better understand the supraventricular tachycardia an esophageal electrode was inserted, the esophageal electrocardiogram confirmed the diagnosis of dual tachycardia (persistent atrial tachycardia combined with short episodes of ventricular tachycardia).

Conclusion: This case provides valuable insight into the diagnosis and management of dual tachycardia in infant. For patients presenting with tachycardia, esophageal electrocardiogram is crucial.

Background: Surgical strategies for congenital aortic stenosis and regurgitation in children, particularly in infants (<1 year), remain controversial. Aortic valvuloplasty (AVP) with pericardial patch has gained increasing attention, but its durability and clinical benefits remain uncertain.

Methods: We retrospectively analyzed pediatric patients (≤12 years) undergoing AVP with pericardial patch in our center between July 2017 and July 2025. Infants (<1 year) were analyzed separately as subgroups. Primary outcome was the change in aortic valve hemodynamics, including median peak gradient, median peak velocity, and degree of aortic regurgitation. Secondary outcomes included major complications, overall survival, and freedom from reoperation.

Results: A total of 35 patients were included, with a median age of 2 years. Among them, 17 were infants, with a median age of 2 months. The median peak aortic valve gradient decreased from 67.0 mmHg to 33.0 mmHg (p < 0.001), and the median peak velocity decreased from 4.1 m/s to 2.9 m/s (p < 0.001), postoperatively. No new moderate or severe aortic regurgitation was observed early postoperatively, and preexisting lesions of this severity were resolved. There were no in-hospital deaths or severe complications. At four years, survival was 96% and freedom from reoperation 75.4% in the overall cohort; in infants, survival was 100% with 66.7% freedom from reoperation.

Conclusions: AVP with pericardium patch is a safe and effective procedure for congenital aortic stenosis and regurgitation in pediatric patients. It represents a promising surgical option for pediatric patients, including infants.