The concepts underlying hypertrophic cardiomyopathy (HCM) pathogenesis have evolved greatly over the last 60 years since the pioneering work of the British pathologist Donald Teare, presenting the autopsy findings of “asymmetric hypertrophy of the heart in young adults”. Advances in human genome analysis and cardiac imaging techniques have enriched our understanding of the complex architecture of the malady and shaped the way we perceive the illness continuum. Presently, HCM is acknowledged as “a disease of the sarcomere”, where the relationship between genotype and phenotype is not straightforward but subject to various genetic and nongenetic influences. The focus of this review is to discuss key aspects related to molecular mechanisms and imaging aspects that have prompted genotype–phenotype correlations, which will hopefully empower patient-tailored health interventions.

In spite of modern treatment, acute myocardial infarction (AMI) still carries significant morbidity and mortality worldwide. Even though standard of care therapy improves symptoms and also long-term prognosis of patients with AMI, it does not solve the critical issue, specifically the permanent damage of cardiomyocytes. As a result, a complex process occurs, namely cardiac remodeling, which leads to alterations in cardiac size, shape and function. This is what has driven the quest for unconventional therapeutic strategies aiming to regenerate the injured cardiac and vascular tissue. One of the latest breakthroughs in this regard is stem cell (SC) therapy. Based on favorable data obtained in experimental studies, therapeutic effectiveness of this innovative therapy has been investigated in clinical settings. Of various cell types used in the clinic, autologous bone marrow derived SCs were the first used to treat an AMI patient, 15 years ago. Since then, we have witnessed an increasing body of data as regards this cutting-edge therapy. Although feasibility and safety of SC transplant have been clearly proved, it’s efficacy is still under dispute. Conducted studies and meta-analysis reported conflicting results, but there is hope for conclusive answer to be provided by the largest ongoing trial designed to demonstrate whether this treatment saves lives. In the meantime, strategies to enhance the SCs regenerative potential have been applied and/or suggested, position papers and recommendations have been published. But what have we learned so far and how can we properly use the knowledge gained? This review will analytically discuss each of the above topics, summarizing the current state of knowledge in the field.

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Background: The aim of this study was to explore the rare variants in a cohort of Romanian index cases with hypertrophic cardiomyopathy (HCM). Methods: Forty-five unrelated probands with HCM were screened by targeted next generation sequencing (NGS) of 47 core and emerging genes connected with HCM. Results: We identified 95 variants with allele frequency < 0.1% in population databases. MYBPC3 and TTN had the largest number of rare variants (17 variants each). A definite genetic etiology was found in 6 probands (13.3%), while inconclusive results due to either known or novel variants were established in 31 cases (68.9%). All disease-causing variants were detected in sarcomeric genes (MYBPC3 and MYH7 with two cases each, and one case in TNNI3 and TPM1 respectively). Multiple variants were detected in 27 subjects (60%), but no proband carried more than one causal variant. Of note, almost half of the rare variants were novel. Conclusions: Herein we reported for the first time the rare variants identified in core and putative genes associated with HCM in a cohort of Romanian unrelated adult patients. The clinical significance of most detected variants is yet to be established, additional studies based on segregation analysis being required for definite classification.

Despite continuous advances in diagnostic and therapeutic methods, acute myocardial infarction (AMI) remains a leading cause of morbidity and mortality worldwide. Considering the role of inflammation in AMI etiopathogenesis, we aimed to explore the role of a group of three inflammatory cytokines (IL-1RA, IL-6 and resistin) as an independent prognostic factor for LVR assessed by 3D echocardiography and MACE in patients with STEMI. We enrolled 41 patients with STEMI who underwent primary PCI. We assessed the occurrence of LVR (defined as an increase of over 20% in end-diastolic left ventricular volume at 6 months compared with baseline values) and MACE. Using the enzyme-linked immunosorbent assays (ELISA) method, we measured plasmatic levels of IL-6, IL-1RA and resistin (within 48 h after AMI and at 6 months). Out of 41 STEMI patients, 20.5% presented signs of LVR at follow up, and in 24.4%, MACE occurred. In univariate logistic regression analysis, baseline levels of IL-6 (OR = 1.042, p = 0.004), IL-1RA (OR = 1.004, p = 0.05) and resistin (OR = 1.7, p = 0.007) were all significantly associated with LVR. ROC analysis showed that the three cytokines as a group (AUC 0.946, p = 0.000) have a better predictive value for LVR than any individual cytokine. The group of cytokines also proved to have a better predictive value for MACE together than separately (AUC = 0.875, p = 0.000 for ROC regression model). IL-6, IL-1RA and resistin plasma levels at baseline have a good predictive value both as independent variables and also as a group for the development of adverse LVR and MACE at 6 months follow up after STEMI.

Introduction: The inflammatory hypothesis of atherosclerosis is appealing in acute coronary syndromes, but the dynamics and precise role are not established.Objectives: The study investigates the levels of C reactive protein (CRP), interleukin 1b (IL-1b) and stromal-derived factor 1a (SDF-1a) at the time of acute myocardial infarction (AMI) and at 1 and 6 months afterwards, compared with a control group. Results: In the acute phase of AMI, CRP and SDF-1a were significantly higher, while IL-1b showed lower levels compared with controls. CRP positively correlated with coronary stenosis severity (rho ¼ 0.3, p¼.05) and negatively related with left ventricle ejection fraction (LVEF) at 1 month (rho¼ À0.43, p¼.05). IL-1b weakly correlated with the severity of coronary lesions (rho ¼0.29, p¼.02) and strongly with LVEF (rho¼ À0.8, p¼.05). SDF-1a, slightly correlated with LVEF at 1 month (rho ¼ 0.22, p¼.01) and with the severity of coronary atherosclerosis (rho¼ À0.41, p¼.003). Conclusions: CRP, IL-1b and SDF-1a have important dynamic in the first 6 months after AMI and CRP and SDF-1a levels correlated with the severity of coronary lesions and LVEF at 1 month after the acute ischaemic event.

Despite diagnostic and therapeutic advances, coronary artery disease and especially its extreme manifestation, ST elevation myocardial infarction (STEMI), remain the leading causes of morbidity and mortality worldwide. Early and prompt diagnosis is of great importance regarding the prognosis of STEMI patients. In recent years, microRNAs (miRNAs) have emerged as promising tools involved in many pathophysiological processes in various fields, including cardiovascular diseases. In acute coronary syndromes (ACS), circulating levels of miRNAs are significantly elevated, as an indicator of cardiac damage, making them a promising marker for early diagnosis of myocardial infarction. They also have prognostic value and great potential as therapeutic targets considering their key function in gene regulation. This review aims to summarize current information about miRNAs and their role as diagnostic, prognostic and therapeutic targets in STEMI patients.

Severe acute respiratory syndrome coronavirus 2 infection affects not only the lungs, but also the cardiovascular system, having a major impact on patients’ outcomes. Myocardial injury (MI) occurs in the context of coronavirus infectious disease 2019 (COVID-19) and is associated with a higher risk of severe clinical outcome and mortality. COVID-19-related MI can have various clinical manifestations, of which the main ones are myocarditis, stress cardiomyopathy, acute coronary syndrome, and pulmonary embolism. The exact mechanisms of how MI occurs in these patients are not yet fully known. Direct injury, through direct viral myocardial invasion, and indirect injury, through interaction with angiotensin I converting enzyme 2, increased inflammation, and thrombocyte and endothelial dysfunction, could be involved in acute MI in patients with COVID-19. A better understanding of these multiple potential mechanisms may help to develop new targeted therapeutic strategies. The purpose of this review is to provide the current understanding of the potential mechanisms involved in MI induced by COVID-19 and to discuss the current progress in the therapeutic strategies.