Hypertrophic cardiomyopathy (HCM) is often associated with left ventricular outflow tract (LVOT) obstruction, which affects a substantial proportion of patients. This obstruction results from a range of anatomical abnormalities involving both the valvular and subvalvular structures. Pharmacological therapies play a pivotal role in the management of LVOT obstruction, with a range of drug classes exhibiting distinct mechanisms of action. Beta-blockers, including atenolol and nadolol, are considered the first-line treatment due to their ability to reduce heart rate and myocardial contractility and enhance diastolic filling. Non-dihydropyridine calcium channel blockers, such as verapamil and diltiazem, are utilized as second-line agents when beta-blockers are ineffective or contraindicated. Disopyramid, a Class 1A antiarrhythmic agent, is employed for patients who do not respond to initial therapeutic interventions and can reduce LVOT gradients. Recent advancements in cardiac myosin modulators, such as Mavacamten and Aficamten, offer targeted therapies by modulating myosin-actin interactions to reduce LVOT gradients and improve symptoms, with promising results from clinical trials. Although gene therapy is still in its nascent stages, it has the potential to address the genetic basis of HCM by employing techniques such as genome editing, gene replacement, and the modulation of signaling pathways. For patients exhibiting severe symptoms or demonstrating unresponsiveness to medical treatment, invasive therapies, such as septal reduction therapy and alcohol septal ablation, are considered. Ultimately, the treatment and prevention of atrial fibrillation and sudden cardiac death are two key points of HCM management in both obstructive and non-obstructive forms. This review aims to provide an overview of current pharmacological and invasive strategies, as well as emerging therapies, in the management of HCM.

The challenging and restrictive settings have been proposed in the updated indications for endomyocardial biopsy (EMB), but no data shows its performance. This study aimed to evaluate the diagnostic yield and find its clinical predictors.

All EMB performed between 2018 and 2022 were reviewed. Their clinical scenario and diagnostic yield were categorized retrospectively. Repeated and inadequate biopsies were excluded. Multivariate analysis was used to find the predictors.

A total of 681 cases were collected (median age 44.0 years, 65.5% male) and 230 cases (33.8%) yielded specific diagnosis. The higher yield (52.8%) was found in clinically suspected myocarditis while no significant difference between cases with and without acute unstable hemodynamics (66.7% vs 47.1%; P=0.130). There was a much higher yield in unexplained restrictive or hypertrophic cardiomyopathy (RCM/HCM) with suspected infiltrative or storage disorder compared to those without (86.2% vs 10.3%; P<0.001). Dilated cardiomyopathy showed a lower yield, with or without recent-onset moderate-to-severe cardiac dysfunction (13.6% vs 16.3%; P=1.000). The same was true for unexplained atrioventricular block and ventricular arrhythmias (AVB/VA), with or without obvious structural abnormalities (8.2% vs 10.3%; P=0.675). On multivariate analysis, diffuse late gadolinium enhancement (odds ratio [OR] 4.14, 95% confidence interval [CI] 1.86-9.25; P=0.001), time course of disease ≤12 months (OR 3.31, 95% CI 1.75-5.57; P<0.001), elevated（≥1250 pg/ml）NT-proBNP (OR 2.91, 95% CI 1.67-5.06; P<0.001), and elevated (>0.068 ng/ml) hs-cTnI (OR 2.37, 95% CI 1.33-4.22; P=0.004) were independently associated with diagnostic yield.

Our results partially support the restrictive settings. EMB can achieve higher yield for unexplained RCM/HCM with suspected infiltrative or storage disorder, as well as strictly defined clinically suspected myocarditis, even in hemodynamically stable patients. However, the restrictive settings of unexplained AVB/VA and dilated cardiomyopathy did not show a clear advantage in diagnostic yield. The predictors this study found may help clinicians in selecting adequate candidates.

Non-dilated left ventricular cardiomyopathy (NDLVC) has been defined as non-ischemic LV scarring or fatty replacement regardless of global or regional wall motion abnormalities, or isolated global LV hypokinesia without scarring. We evaluated the arrhythmic risk in NDLVC and assessed the prognostic value of overlapping features with arrhythmogenic cardiomyopathy (ACM).

All patients who underwent cardiovascular magnetic resonance (CMR) scan and genetic testing between 2012 and 2022 and met the diagnostic criteria for NDLVC were selected. All patients were evaluated for the presence of the 2024 diagnostic criteria for ACM. The primary endpoint was a composite of sudden cardiac death (SCD), ventricular fibrillation (VF) or sustained ventricular tachycardia (VT),.

The cohort included 225 patients (35 % women, median age 55 years [interquartile range 44-64]). The etiology was genetic in 44 % of cases, with 51 pathogenetic/likely pathogenetic (P/LP) variant and 49 variant of uncertain significance (VUS). Over 3.3 years (1.5-6.0), 12 patients (5 %) developed an endpoint event. The risk increased in patients meeting the criteria for definite or borderline arrhythmogenic left ventricular (ALVC) and biventricular (ABVC) cardiomyopathy. In the whole cohort, LGE >9 % of LV mass was the most significant predictor of outcome. In patients with LGE >9 %, fatty replacement significantly increased the risk of arrhythmic events.

LGE >9 % of LV mass and fatty replacement are associated with an increased arrhythmic risk in NDLVC. The risk is also higher if patients meet the 2024 criteria for definite or borderline ALVC/ABVC.

Cardiac magnetic resonance (CMR) is essential for diagnosing cardiomyopathy, serving as the gold standard for assessing heart chamber volumes and tissue characterization. Haemodynamic forces (HDFs) analysis, a novel approach using standard cine CMR images, estimates energy exchange between the left ventricular (LV) wall and blood. While prior research has focused on peak or mean longitudinal HDF values, this study aims to investigate whether unsupervised clustering of HDF curves can identify clinically significant patterns and stratify cardiovascular (CV) risk in non-ischaemic LV cardiomyopathy (NILVC).

A retrospective cohort of 279 patients with NILVC who underwent cardiac CMR at Vall d'Hebron University Hospital (Barcelona) was examined. Unsupervised clustering of longitudinal and transversal HDF curves was performed using dynamic time warping for dissimilarity measurement and the partitioning around medoids algorithm. Outcomes were defined as a composite of CV mortality, heart failure hospitalization, and ventricular arrhythmias. The median age was 65 (57.0; 74.0) years, with 27.2% females and 35.5% showing late gadolinium enhancement (LGE). Unsupervised clustering identified three distinct clusters, delineating risk groups with worsening LA and LV function, indicating a stepwise increase in CV risk profile. Over a median follow-up of 40 months, 60 patients experienced the composite outcome. After adjusting for LGE, LV ejection fraction (EF), and LV size, Clusters 2 and 3 demonstrated a significantly higher risk of adverse events (both P < 0.05) compared with Cluster 1.

Analysing both longitudinal and transversal HDFs throughout the cardiac cycle enables the identification of distinct phenotypes with prognostic value beyond EF and LGE in NILVC patients.

Hypertrophic cardiomyopathy (HCM) is a condition characterized by left ventricular hypertrophy, with physiopathological remodeling that predisposes patients to atrial fibrillation (AF). The electrocardiogram is a basic diagnostic tool for evaluating heart electrical activity. Key electrocardiographic features that correlate with AF onset are P-wave duration, P-wave dispersion, and electromechanical delay in left atrium (LA). Clinical markers, including age, body mass index, New York Heart Association functional class, and heart failure symptoms, are also strong predictors of AF in HCM. Risk scores have been created using multiple variables to better predict AF development. Increasing knowledge of genetic subsets in HCM and cardiovascular pathology in general has provided novel insight in this context. Structural and mechanical LA remodeling, including fibrosis, altered LA function, and changes in atrial size, further contribute to AF risk prediction. Cardiovascular magnetic resonance (CMR) and echocardiographic measures provide accurate information about atrial structure and function. Machine learning models are increasingly being utilized to refine risk prediction, incorporating a wide range of variables. This review highlights the multifaceted approach required to understand and predict AF development in HCM. Such an approach is imperative to enhance prognostic accuracy and improve the quality of life of these patients. Further research is necessary to refine patient outcomes and develop customized management strategies for HCM-associated AF.

Cardiomyopathies are a significant cause of heart failure, arrhythmia, and cardiac morbidity in the general population. Cardiovascular magnetic resonance (CMR) is a valuable tool for the diagnostic work-up of patients with acute cardiac events.

This study evaluated the diagnostic value of CMR and the yield of cardiomyopathies in hospitalized cardiac patients with acute presentation.

A retrospective analysis was conducted with 535 consecutive hospitalized patients who underwent CMR at Hippokration Hospital, Athens, Greece, to identify a subset of scans performed on an urgent basis of hospitalized patients. Demographic data, causes of admission, CMR findings, and plasma cardiac biomarkers (hs-Troponin I, NT-proBNP, and CRP) were systematically recorded.

Out of the initial 535 CMR scans evaluated, a further analysis was conducted with 104 patients who were in hospital and underwent CMR on an urgent basis. From the total population of hospitalized patients, 33% had CMR findings indicative of underlying cardiomyopathy, with dilated cardiomyopathy being the most common subtype (36%), followed by arrhythmogenic cardiomyopathy (27%), hypertrophic cardiomyopathy (15%), or other subtypes (e.g., cardiac amyloidosis, sarcoidosis, endomyocardial fibrosis, EGPA, or unclassified). CMR led to the reclassification of the initial diagnosis into that of underlying cardiomyopathy in 32% of cases. The highest reclassification rate was observed within the subgroup with heart failure (71%), followed by that of acute myocardial infarction/ischemic heart disease (24%) and myocarditis (22%).

CMR imaging effectively contributed to the differential diagnosis of hospitalized patients with acute cardiac events that remained without a definitive diagnosis after their initial work-up and uncovered underlying cardiomyopathy in almost one-third of this cohort.

Background: Several drugs are emerging as potential therapeutic resources in the context of chronic heart failure (CHF), although their impact on daily clinical practice remains unknown. The objective of this study was to investigate the theoretical eligibility for vericiguat and omecamtiv mecarbil (OM) in a real-world outpatient setting. Methods: A cross-sectional observational study was conducted, enrolling all patients with CHF who had at least one visit between January 2023 and January 2024 in a dedicated outpatient clinic of a tertiary referral center. Theoretical eligibility for vericiguat and OM in our population was assessed by adopting the criteria of the respective phase III clinical trials (VICTORIA trial for vericiguat and GALACTIC-HF trial for OM). Results: In 350 patients with CHF, the rate of individuals eligible was 2% for vericiguat and 4% for OM. A value for left ventricular ejection fraction (LVEF) over the clinical trials' cutoffs was observed in 41% of cases for vericiguat and 69% for OM. The absence of a recent heart failure (HF) worsening was found in 78% of cases for vericiguat and 72% for OM. Conclusions: Only a small proportion of CHF patients would be eligible for vericiguat and OM in a real-world outpatient setting. The absence of a recent HF worsening and an LVEF over the established trials' cutoffs are the main causes of non-eligibility. Further studies are required to assess the efficacy of these drugs in a wider population in order to increase the candidates for these beneficial treatments.

Arrhythmogenic cardiomyopathy (ACM) is a cardiac disorder characterized by structural alterations of the myocardium, which predisposes individuals to ventricular arrhythmias and increases the risk of sudden cardiac death. Initially described as arrhythmogenic right ventricular cardiomyopathy, the involvement of the left ventricle (LV) has been subsequently recognized, leading to the classification of various phenotypes under LV non-dilated cardiomyopathy. The clinical spectrum of ACM ranges from life-threatening ventricular arrhythmias to overt heart failure, sometimes presenting with acute myocarditis-like episodes and extracardiac symptoms, further contributing to the disease's heterogeneity. Diagnosis relies on imaging modalities, such as echocardiogram and cardiac magnetic resonance imaging, to detect areas of fibro-fatty replacement and/or non-ischemic ventricular scarring, integrated with genetic analysis. The 2023 European Society of Cardiology guidelines on Cardiomyopathies underscore the importance of a comprehensive diagnostic approach, combining imaging and genetics for arrhythmic risk stratification and comprehensive patient management. Growing evidence on genotype-phenotype correlation, along with the validation of specific predictive scores, is improving ACM clinical management and promoting personalized treatment tailored to individual and familial characteristics.

Transfusion-dependent beta thalassemia (TDT) is a genetic disorder characterized by low haemoglobin levels, often leading to myocardial iron overload (MIO) and myocardial fibrosis (MF). Cardiac Magnetic Resonance (CMR) represents the gold standard for MIO and MF assessment, although its limited availability and high costs pose challenges. Left Ventricular Global Longitudinal Strain (LV GLS) measured by Speckle Tracking Echocardiography (STE) could offer a valuable alternative.

A monocentric diagnostic accuracy study was conducted to compare the performance of LV GLS with CMR using T2* for evaluating MIO and late gadolinium enhancement (LGE) for detecting MF. Between January 2022 and January 2023, 44 consecutive patients with TDT were enrolled. For each participant was performed LV GLS with STE, including CMR with T2* technique and LGE sequences.

CMR identified MIO in 8 patients (18 %) and MF in 5 (11 %). LV GLS STE was normal in patients without MIO (-20.6 ± 3.1 %) or MF (-20.6 ± 2.8 %), significantly differing from those with MIO (-18.2 ± 2.1 %, p = 0.043) and MF (-16.4 ± 1.7 %, p = 0.002). ROC analysis indicated an optimal LV GLS STE cutoff of -19.8 % for MIO (AUC = 0.76, 95 % CI: 0.59-0.93, p = 0.054) with an overall diagnostic accuracy of 64 % and an optimal cutoff of -18.3 % for MF (AUC = 0.93, 95 % CI: 0.85-1.00, p = 0.009) with an accuracy of 86 %.

The findings of this pilot study indicate that LV GLS with STE, may be a cost-effective screening tool for the early detection of MIO and MF in TDT patients.

Cardiac amyloidosis (CA) is a cardiac storage disease caused by the progressive extracellular deposition of misfolded proteins in the myocardium. Despite the increasing interest in this pathology, it remains an underdiagnosed condition. Non-invasive diagnostic techniques play a central role in the suspicion and detection of CA, also thanks to the continuous scientific and technological advances in these tools. The 12-lead electrocardiography is an inexpensive and reproducible test with a diagnostic accuracy that, in some cases, exceeds that of imaging techniques, as recent studies have shown. Echocardiography is the first-line imaging modality, although none of its parameters are pathognomonic. According to the 2023 ESC Guidelines, a left ventricular wall thickness ≥ 12 mm is mandatory for the suspicion of CA, making this technique crucial. Cardiac magnetic resonance provides high-resolution images associated with tissue characterization. The use of contrast and non-contrast sequences enhances the diagnostic power of this imaging modality. Nuclear imaging techniques, including bone scintigraphy and positron emission tomography, allow the detection of amyloid deposition in the heart, and their role is also central in assessing the prognosis and response to therapy. The role of computed tomography was recently evaluated by several studies, above in population affected by aortic stenosis undergoing transcatheter aortic valve replacement, with promising results. Finally, machine learning and artificial intelligence-derived algorithms are gaining ground in this scenario and provide the basis for future research. Understanding the new insights into non-invasive diagnostic techniques is critical to better diagnose and manage patients with CA and improve their survival.

Premature ventricular contractions (PVCs) are a common form of arrhythmic events, often representing an idiopathic and benign condition without further therapeutic interventions. However, in certain circumstances PVCs may represent the epiphenomenon of a concealed structural heart disease (SHD). Surface 12‑leads EKG and 24-h dynamic EKG are necessary to assess their main characteristics such as site of origin, frequency and complexity. Echocardiography represents the first-line imaging tool recommended to evaluate cardiac structures and function. Cardiac Magnetic Resonance (CMR) is recognized as a superior modality for detecting structural cardiac alterations, that might evade detection by conventional echocardiography. Moreover, in specific populations such as athletes, CMR may have a crucial role to exclude a concealed SHD and the risk of serious arrhythmic events during sport activity. Some clinical characteristics such as male sex, older age or family history of sudden cardiac death (SCD) or cardiomyopathy, and some electrocardiographic features of PVCs, in particular a right branch bundle block (RBBB) with superior/intermediate axis morphology, the reproducibility of VAs during exercise test (ET) or the evidence of complex ventricular arrhythmias, may warrant a CMR evaluation, due to the high probability of SHD. In this systematic review our objective was to provide an exhaustive overview on the role of CMR in detecting a concealed SHD in patients with high daily burden of PVCs and a normal echocardiographic evaluation, paving the way for a more extensive utilization of CMR in presence of certain high-risk clinical and/or EKG features identified during the diagnostic workup.

To determine the prognostic value of left atrial strain (LAS) using cardiac magnetic resonance for predicting death, heart failure, and ischemic stroke in patients with known or suspected coronary artery disease with preserved left ventricular systolic function and no prior history of ischemic stroke, heart failure, or atrial fibrillation.

This retrospective cohort analysis included patients referred for stress cardiac magnetic resonance or myocardial viability studies between September 2017 and December 2019. Patients with impaired left ventricular systolic function (<50%) or a history of atrial fibrillation, stroke, or heart failure were excluded. A multivariable Cox model assessed the prognostic value of LAS, with the primary outcomes being the composite outcomes of all-cause death, ischemic stroke, and heart failure. A total of 2030 participants were included in the study. The average LAS was 24.1±8.5%; 928 had LAS <23%, and 1102 had LAS ≥23%. The mean follow-up duration was 39.9±13.6 months. There were 49 deaths (2.4%), 32 ischemic strokes (1.6%), and 34 heart failure events (1.7%). Patients with LAS <23% were at greater risk for composite outcome, with an adjusted hazard ratio of 2.31 (95% CI, 1.50-3.55).

LAS by cardiac magnetic resonance has an independent and incremental prognostic value for death, ischemic stroke, and heart failure in patients with preserved left ventricular systolic function. This prognostic value is observed after adjusting for clinical and cardiac magnetic resonance parameters, including left ventricular systolic function, late gadolinium enhancement, and left atrial volume index.

Objectives: This multicenter, retrospective, population-based, matched-cohort study compared clinical characteristics and magnetic resonance imaging (MRI) findings, including hepatic, pancreatic, and cardiac iron levels and cardiac function, between 135 adult regularly transfused thalassemia intermedia (TI) patients (44.73 ± 12.16 years, 77 females) and 135 age- and sex-matched thalassemia major (TM) patients (43.35 ± 9.83 years, 77 females), enrolled in the Extension-Myocardial Iron Overload in Thalassemia Network. Methods: The MRI protocol included the quantification of hepatic, pancreatic, and cardiac iron levels (R2* technique), the assessment of biventricular function parameters (cine images), and the detection of replacement myocardial fibrosis (late gadolinium enhancement technique). Results: Age, sex, frequency of splenectomy and chelation, and serum ferritin levels were not significantly different (p > 0.05) between the two groups, but TI patients started regular transfusions significantly later (p < 0.0001) and showed significantly lower pre-transfusion hemoglobin levels (p = 0.005). No difference was found in hepatic iron levels (p = 0.853). TI patients exhibited significantly lower pancreatic R2* values (p < 0.0001), also correcting for the duration of regular transfusions, and significantly lower cardiac R2* values (p < 0.0001). In the receiver operating characteristic analysis, pancreatic iron was the strongest discriminator between the two diseases. Left and right ventricular end-diastolic volume indexes were significantly higher in TI than in TM patients (p = 0.003 and p = 0.046, respectively), but the correction for the duration of regular transfusions removed the disease-specific differences (p > 0.05). Left ventricular (LV) mass index was significantly higher in TI (p = 0.049), while no difference (p > 0.05) was found in biventricular ejection fractions and replacement myocardial fibrosis. Conclusions: TI patients showed lower pancreatic and cardiac iron burden and more pronounced LV hypertrophy. These differences could not be explained by the different duration of the transfusional regimen.

The aim of this study is to assess the feasibility of compressed sensing (CS) acceleration methods compared to conventional segmented cine (Seg) cardiac magnetic resonance (CMR) for evaluating left ventricular (LV) function and strain by feature tracking (FT). In this prospective study, 45 healthy volunteers underwent CMR imaging used Seg, threefold (CS3), fourfold (CS4), and eightfold (CS8) CS acceleration. Cine images were scored for quality (1-5 scale). LV volumetric and functional parameters and global longitudinal (GLS), circumferential (GCS), and radial strains (GRS) were quantified. LV volumetric and functional parameters exhibited no differences between Seg and all CS cines (all P > 0.05). The strains were similar for Seg, CS3, and CS4 (all P > 0.05). Similarly, no significant differences were observed in GRS and GCS between Seg and CS8 (all P > 0.05), but the global longitudinal strain was significantly lower for CS8 versus Seg (P < 0.001). Image quality declined with CS acceleration, especially in long-axis views with CS8. CS cine MRI at acceleration factor 4 maintained good image quality and accurate measurements of LV function and strain, although there was a slight reduction in the quality of long-axis images and GLS with CS8. CS acceleration up to a factor of 4 enabled fast CMR evaluations, making it suitable for clinical use.

Cardiac magnetic resonance represents the gold standard imaging technique to assess cardiac volumes, wall thickness, mass, and systolic function but also to provide noninvasive myocardial tissue characterization across almost all cardiac diseases. In patients with cardiac amyloidosis, increased wall thickness of all heart chambers, a mildly reduced ejection fraction and occasionally pleural and pericardial effusion are the characteristic morphologic anomalies. The typical pattern after contrast injection is represented by diffuse areas of late gadolinium enhancement, which can be focal and patchy in very early stages, circumferential, and subendocardial in intermediate stages or even diffuse transmural in more advanced stages.

Pediatric dilated cardiomyopathy (DCM) is a rare, yet life-threatening cardiovascular condition characterized by systolic dysfunction with biventricular dilatation and reduced myocardial contractility. Therapeutic options are limited with nearly 40% of children undergoing heart transplant or death within 2 years of diagnosis. Pediatric patients are currently diagnosed based on correlating the clinical picture with echocardiographic findings. Patient age, etiology of disease, and parameters of cardiac function significantly impact prognosis. Treatments for pediatric DCM aim to ameliorate symptoms, reduce progression of disease, and prevent life-threatening arrhythmias. Many therapeutic agents with known efficacy in adults lack the same evidence in children. Unlike adult DCM, the pathogenesis of pediatric DCM is not well understood as approximately two thirds of cases are classified as idiopathic disease. Children experience unique gene expression changes and molecular pathway activation in response to DCM. Studies have pointed to a significant genetic component in pediatric DCM, with variants in genes related to sarcomere and cytoskeleton structure implicated. In this regard, pediatric DCM can be considered pediatric manifestations of inherited cardiomyopathy syndromes. Yet exciting recent studies in infantile DCM suggest that this subset has a distinct etiology involving defective postnatal cardiac maturation, such as the failure of programmed centrosome breakdown in cardiomyocytes. Improved knowledge of pathogenesis is central to developing child-specific treatment approaches. This review aims to discuss the established biological pathogenesis of pediatric DCM, current clinical guidelines, and promising therapeutic avenues, highlighting differences from adult disease. The overarching goal is to unravel the complexities surrounding this condition to facilitate the advancement of novel therapeutic interventions and improve prognosis and overall quality of life for pediatric patients affected by DCM.

Early diagnosis of patients with dilated cardiomyopathy (DCM) remains challenging. Cardiac MR can correlate myocardial changes with their pathological basis. There have been some previous studies on the effect of T1 mapping in DCM, but there is limited data on the incremental value of T2 mapping for DCM in routine clinical practice. This study will examine whether the combination of MRI T1 and T2 mapping offers greater advantages in the diagnosis of DCM.

The study included 28 patients with DCM and 21 healthy controls. CMR evaluation included late gadolinium enhancement (LGE), T1 mapping, extracellular volume (ECV) fraction and T2 mapping. The DCM group was divided into LGE (+) and LGE (-) subgroups. The main modes of LGE are subendocardial, midwall, subepicardial, or transmural. T1 values, T2 values, and ECV in the 16 segments myocardial levels were measured by post-processing software. Student's t-tests or Mann-Whitney U test was used to compare between two groups, and one-way ANOVA or Kruskal-Wallis H test was used to compare between multiple groups, with p values corrected by Bonferroni. The difference was considered statistically significant at P < 0.05. ROC curve analysis was used to compare the area under the curve (AUC) of each index and its combined value, and the cut-off value, sensitivity and specificity were determined by Jordan's index.

Mean native myocardial T1, ECV and T2 were significantly higher in the DCM group compared to controls (p ≤ 0.001, respectively). The best cut-off values for T1, T2 and ECV to discriminate DCM from controls were 1184 ms, 40.9 ms and 29.2%, respectively. The AUC of T1, ECV and T2 were 0.87, 0.89, and 0.83, respectively. The combined AUC of the three values was 0.96.

Native T1 value and ECV overcome some of the limitations of LGE, and the T2 helps to understand the extent of myocardial damage. The combination of T1 and T2 mapping techniques can reveal fibrotic and oedematous changes in the early stages of DCM, providing a more comprehensive assessment of DCM and better guidance for individualised clinical management of patients.

We suggest that the addition of T2 mapping to the routine CMR examination of patients with suspected DCM, and the combined assessment of T1mapping and T2 mapping can provide complementary information about the disease and improve the early diagnosis of DCM.

Cardiomyopathies (CMPs) are a group of myocardial disorders that are characterized by structural and functional abnormalities of the heart muscle. These abnormalities occur in the absence of coronary artery disease (CAD), hypertension, valvular disease, and congenital heart disease. CMPs are an increasingly important topic in the field of cardiovascular diseases due to the complexity of their diagnosis and management. In 2023, the ESC guidelines on cardiomyopathies were first published, marking significant progress in the field. The growth of techniques such as cardiac magnetic resonance imaging (CMR) and genetics has been fueled by the development of multimodal imaging approaches. For the diagnosis of CMPs, a multimodal imaging approach, including CMR, is recommended. CMR has become the standard for non-invasive analysis of cardiac morphology and myocardial function. This document provides an overview of the role of CMR in CMPs, with a focus on tissue mapping. CMR enables the characterization of myocardial tissues and the assessment of cardiac functions. CMR sequences and techniques, such as late gadolinium enhancement (LGE) and parametric mapping, provide detailed information on tissue composition, fibrosis, edema, and myocardial perfusion. These techniques offer valuable insights for early diagnosis, prognostic evaluation, and therapeutic guidance of CMPs. The use of quantitative CMR markers enables personalized treatment plans, improving overall patient outcomes. This review aims to serve as a guide for the use of these new tools in clinical practice.

The interventricular septum (IVS) is a core myocardial structure involved in biventricular coupling and performance. Physiologically, during systole, it moves symmetrically toward the center of the left ventricle (LV) and opposite during diastole. Several pathological conditions produce a reversal or paradoxical septal motion, such as after uncomplicated cardiac surgery (CS). The postoperative paradoxical septum (POPS) was observed in a high rate of cases, representing a unicum in the panorama of paradoxical septa as it does not induce significant ventricular morpho-functional alterations nor negative clinical impact. Although it was previously considered a postoperative event, evidence suggests that it might also appear during surgery and gradually resolve over time. The mechanism behind this phenomenon is still debated. In this article, we will provide a comprehensive review of the various theories generated over the past fifty years to explain its pathological basis. Finally, we will attempt to give a heuristic interpretation of the biventricular postoperative motion pattern based on the switch of the ventricular anchor points.

The association between cardiomyopathies (CMPs) and psychiatric disorders is a complex and bidirectional phenomenon that involves multiple mechanisms and factors. CMPs may raise the risk of psychiatric disorders due to the psychological stress, physical limitations, social isolation, or poor prognosis associated with the underlying disease. Psychiatric disorders, on the other hand, can increase the possibility of developing or worsening CMPs due to the behavioral, neuroendocrine, inflammatory, or pharmacological effects of mental illness or its treatment. Moreover, some common genetic or environmental factors may have a relevant influence on both conditions. With this comprehensive review, we sought to provide an overview of the current evidence on the strict and intriguing interconnection between CMPs and psychiatric disorders, focusing on the epidemiology, pathophysiology, clinical implications, and management strategies.

In cardiovascular magnetic resonance imaging parametric T1 mapping lacks universally valid reference values. This limits its extensive use in the clinical routine. The aim of this work was the introduction of our self-developed Magnetic Resonance Imaging Software for Standardization (MARISSA) as a post-hoc standardisation approach.

Our standardisation approach minimises the bias of confounding parameters (CPs) on the base of regression models. 214 healthy subjects with 814 parametric T1 maps were used for training those models on the CPs: age, gender, scanner and sequence. The training dataset included both sex, eleven different scanners and eight different sequences. The regression model type and four other adjustable standardisation parameters were optimised among 240 tested settings to achieve the lowest coefficient of variation, as measure for the inter-subject variability, in the mean T1 value across the healthy test datasets (HTE, N = 40, 156 T1 maps). The HTE were then compared to 135 patients with left ventricular hypertrophy including hypertrophic cardiomyopathy (HCM, N = 112, 121 T1 maps) and amyloidosis (AMY, N = 24, 24 T1 maps) after applying the best performing standardisation pipeline (BPSP) to evaluate the diagnostic accuracy.

The BPSP reduced the COV of the HTE from 12.47% to 5.81%. Sensitivity and specificity reached 95.83% / 91.67% between HTE and AMY, 71.90% / 72.44% between HTE and HCM, and 87.50% / 98.35% between HCM and AMY.

Regarding the BPSP, MARISSA enabled the comparability of T1 maps independently of CPs while keeping the discrimination of healthy and patient groups as found in literature.

This study was supported by the BMBF / DZHK.

Cardiomyopathies are myocardial diseases characterized by mechanical and electrical dysfunction of the heart muscle which could lead to heart failure and life-threatening arrhythmias. Certainly, an accurate anamnesis, a meticulous physical examination, and an ECG are cornerstones in raising the diagnostic suspicion. However, cardiovascular imaging techniques are indispensable to diagnose a specific cardiomyopathy, to stratify the risk related to the disease and even to track the response to the therapy. Echocardiography is often the first exam that the patient undergoes, because of its non-invasiveness, wide availability, and cost-effectiveness. Cardiac magnetic resonance imaging allows to integrate and implement the information obtained with the echography. Furthermore, cardiomyopathies' genetic basis has been investigated over the years and the list of genetic mutations deemed potentially pathogenic is expected to grow further. The aim of this review is to show echocardiographic, cardiac magnetic resonance imaging, and genetic features of several cardiomyopathies: dilated cardiomyopathy (DMC), hypertrophic cardiomyopathy (HCM), arrhythmogenic cardiomyopathy (ACM), left ventricular noncompaction cardiomyopathy (LVNC), myocarditis, and takotsubo cardiomyopathy.

A deep learning (DL) model that automatically detects cardiac pathologies on cardiac MRI may help streamline the diagnostic workflow. To develop a DL model to detect cardiac pathologies on cardiac MRI T1-mapping and late gadolinium phase sensitive inversion recovery (PSIR) sequences were used.

Subjects in this study were either diagnosed with cardiac pathology (n = 137) including acute and chronic myocardial infarction, myocarditis, dilated cardiomyopathy, and hypertrophic cardiomyopathy or classified as normal (n = 63). Cardiac MR imaging included T1-mapping and PSIR sequences. Subjects were split 65/15/20% for training, validation, and hold-out testing. The DL models were based on an ImageNet pretrained DenseNet-161 and implemented using PyTorch and fastai. Data augmentation with random rotation and mixup was applied. Categorical cross entropy was used as the loss function with a cyclic learning rate (1e-3). DL models for both sequences were developed separately using similar training parameters. The final model was chosen based on its performance on the validation set. Gradient-weighted class activation maps (Grad-CAMs) visualized the decision-making process of the DL model.

The DL model achieved a sensitivity, specificity, and accuracy of 100%, 38%, and 88% on PSIR images and 78%, 54%, and 70% on T1-mapping images. Grad-CAMs demonstrated that the DL model focused its attention on myocardium and cardiac pathology when evaluating MR images.

The developed DL models were able to reliably detect cardiac pathologies on cardiac MR images. The diagnostic performance of T1 mapping alone is particularly of note since it does not require a contrast agent and can be acquired quickly.

Extracellular vesicles (EVs) are membrane-bound particles released by all cells under physiological and pathological conditions. EVs constitute a potential tool to unravel cell-specific pathophysiological mechanisms at the root of disease states and retain the potential to act as biomarkers for cardiac diseases. By being able to carry bioactive cargo (such as proteins and miRNAs), EVs harness great potential as accessible "liquid biopsies", given their ability to reflect the state of their cell of origin. Cardiomyopathies encompass a variety of myocardial disorders associated with mechanical, functional and/or electric dysfunction. These diseases exhibit different phenotypes, including inappropriate ventricular hypertrophy, dilatation, scarring, fibro-fatty replacement, dysfunction, and may stem from multiple aetiologies, most often genetic. Thus, the aims of this narrative review are to summarize the current knowledge on EVs and cardiomyopathies (e.g., hypertrophic, dilated and arrhythmogenic), to elucidate the potential role of EVs in the paracrine cell-to-cell communication among cardiac tissue compartments, in aiding the diagnosis of the diverse subtypes of cardiomyopathies in a minimally invasive manner, and finally to address whether certain molecular and phenotypical characteristics of EVs may correlate with cardiomyopathy disease phenotype and severity.

Non-ischemic dilated cardiomyopathy (DCM) is a disease characterized by left ventricular dilation and systolic dysfunction. Patients with DCM are at higher risk for ventricular arrhythmias and sudden cardiac death (SCD). According to current international guidelines, left ventricular ejection fraction (LVEF) ≤ 35% represents the main indication for prophylactic implantable cardioverter defibrillator (ICD) implantation in patients with DCM. However, LVEF lacks sensitivity and specificity as a risk marker for SCD. It has been seen that the majority of patients with DCM do not actually benefit from the ICD implantation and, on the contrary, that many patients at risk of SCD are not identified as they have preserved or mildly depressed LVEF. Therefore, the use of LVEF as unique decision parameter does not maximize the benefit of ICD therapy. Multiple risk factors used in combination could likely predict SCD risk better than any single risk parameter. Several predictors have been proposed including genetic variants, electric indexes, and volumetric parameters of LV. Cardiac magnetic resonance (CMR) can improve risk stratification thanks to tissue characterization sequences such as LGE sequence, parametric mapping, and feature tracking. This review evaluates the role of CMR as a risk stratification tool in DCM patients referred for ICD.

Precision medicine for cardiomyopathies holds great promise to improve patient outcomes costs by shifting the focus to patient-specific treatment decisions, maximising the use of therapies most likely to lead to benefit and minimising unnecessary intervention. Dilated cardiomyopathy (DCM), characterised by left ventricular dilatation and impairment, is a major cause of heart failure globally. Advances in genomic medicine have increased our understanding of the genetic architecture of DCM. Understanding the functional implications of genetic variation to reveal genotype-specific disease mechanisms is the subject of intense investigation, with advanced cardiac imaging and mutliomics approaches playing important roles. This may lead to increasing use of novel, targeted therapy. Individualised treatment and risk stratification is however made more complex by the modifying effects of common genetic variation and acquired environmental factors that help explain the variable expressivity of rare genetic variants and gene elusive disease. The next frontier must be expanding work into early disease to understand the mechanisms that drive disease expression, so that the focus can be placed on disease prevention rather than management of later symptomatic disease. Overcoming these challenges holds the key to enabling a paradigm shift in care from the management of symptomatic heart failure to prevention of disease.

Cardiomyopathies represent a diverse group of heart muscle diseases with varying etiologies, presenting a diagnostic challenge due to their heterogeneous manifestations. Regular evaluation using cardiac imaging techniques is imperative as symptoms can evolve over time. These imaging approaches are pivotal for accurate diagnosis, treatment planning, and optimizing prognostic outcomes. Among these, cardiovascular magnetic resonance (CMR) stands out for its ability to provide precise anatomical and functional assessments. This manuscript explores the significant contributions of CMR in the diagnosis and management of patients with cardiomyopathies, with special attention to risk stratification. CMR's high spatial resolution and tissue characterization capabilities enable early detection and differentiation of various cardiomyopathy subtypes. Additionally, it offers valuable insights into myocardial fibrosis, tissue viability, and left ventricular function, crucial parameters for risk stratification and predicting adverse cardiac events. By integrating CMR into clinical practice, clinicians can tailor patient-specific treatment plans, implement timely interventions, and optimize long-term prognosis. The non-invasive nature of CMR reduces the need for invasive procedures, minimizing patient discomfort. This review highlights the vital role of CMR in monitoring disease progression, guiding treatment decisions, and identifying potential complications in patients with cardiomyopathies. The utilization of CMR has significantly advanced our understanding and management of these complex cardiac conditions, leading to improved patient outcomes and a more personalized approach to care.

We derived reference values of left-ventricular (LV) and right-ventricular (RV) strain parameters in a cohort of 100 healthy subjects by feature tracking cardiac magnetic resonance (FT-CMR). Global and regional strain values were calculated for the LV; circumferential and radialSAX strain parameters were derived from the short-axis (SAX) stack, while longitudinal and radialLAX strain parameters were assessed in three long-axis (LAX) views. Only global longitudinal strain (GLS) was calculated for the RV. Peak global LV circumferential strain was -16.7% ± 2.1%, LV radialSAX strain was 26.4% ± 5.1%, LV radialLAX strain was 31.1% ± 5.2%, LV GLS was -17.7% ± 1.9%, and RV GLS was -23.9% ± 4.1%. Women presented higher global LV and RV strain values than men; all strain values presented a weak relationship with body surface area, while there was no association with age or heart rate. A significant association was detected between all LV global strain measures and LV ejection fraction, while RV GLS was correlated to RV end-diastolic volume. The intra- and inter-operator reproducibility was good for all global strain measures. In the regional analysis, circumferential and radial strain values resulted higher at the apical level, while longitudinal strain values were higher at the basal level. The assessment of cardiac deformation by FT-CMR is feasible and reproducible and gender-specific reference values should be used.

Acute myocardial edema (AME) is increased water content in the myocardium and represents the first and transient pathophysiological response to an acute myocardial injury. In-vivo and non-invasive evaluation is feasible with cardiac magnetic resonance (CMR), which is a powerful imaging technique capable of tissue characterization. In the clinical setting, early demonstration of AME has a recognized diagnostic value for acute coronary syndromes and acute myocarditis, although its prognostic value is not well established. This article provides a comprehensive narrative review on the clinical meaning of AME in heart diseases. In particular, the available evidence of a possible favourable prognostic value in several clinical scenarios is addressed.

Imaging has a central role in the diagnosis, classification, and clinical management of cardiomyopathies. While echocardiography is the first-line technique, given its wide availability and safety, advanced imaging, including cardiovascular magnetic resonance (CMR), nuclear medicine and CT, is increasingly needed to refine the diagnosis or guide therapeutic decision-making. In selected cases, such as in transthyretin-related cardiac amyloidosis or in arrhythmogenic cardiomyopathy, the demonstration of histological features of the disease can be avoided when typical findings are observed at bone-tracer scintigraphy or CMR, respectively. Findings from imaging techniques should always be integrated with data from the clinical, electrocardiographic, biomarker, genetic and functional evaluation to pursue an individualised approach to patients with cardiomyopathy.

Cardiomyopathies are defined as myocardial disorders in which the heart muscle is structurally and functionaly abnormal in the absence of a disease sufficient to cause this abnormality such as coronary artery disease, hypertension, valvular or congenital heart disease. According to the phenotype expresion cardiomyopathies are divided into dilated, hypertrophic, restrictive, arrhytmogenic and unclassified cardiomyopathies (noncompaction and tako-tsubo cardiomyopathy). The same phenotypic expression may include etiologically different forms of the disease, and at the same time phenotypic expression may change in many cardiomyopathies in the course of illness. For each type of cardiomyopathy, we further distinguish the familial (genetic) form and the acquired form. The clinical manifestation of the disease includes symptoms of heart failure, with reduced, mildly reduced or preserved ejection fraction, symptoms resulting from a number of arrhythmias and extracardiac symptoms, but in some cases symptoms may not be presented for a relatively long time. The disease can lead to significant morbidity and mortality if not detected and treated early, especially in young people who are frequently affected. Significant developments in diagnostic and treatment methods have led to an improvement in the prognosis of patients with cardiomyopathies in recent years.

Nonischemic cardiomyopathies include a wide range of dilated, hypertrophic and arrhythmogenic heart muscle disorders, not explained by coronary artery disease, hypertension, valvular or congenital heart disease. Advances in medical treatments and the availability of implantable cardioverter defibrillators to prevent sudden cardiac death have allowed a substantial increase in the survival of affected individuals, thus making early diagnosis and tailored treatment mandatory. The characterization of cardiomyopathies has received a great boost from the recent advances in cardiovascular magnetic resonance (CMR) imaging, which, to date, represents the gold standard for noninvasive assessment of cardiac morphology, function and myocardial tissue changes. An acute clinical presentation has been reported in a nonnegligible proportion of patients with nonischemic cardiomyopathies, usually complaining of acute chest pain, worsening dyspnoea or palpitations; 'hot phases' of cardiomyopathies are characterized by a dynamic rise in high-sensitivity troponin, myocardial oedema on CMR, arrhythmic instability, and by an increased long-term risk of adverse remodelling, progression of myocardial fibrosis, heart failure and malignant ventricular arrhythmias. Prompt recognition of 'hot phases' of nonischemic cardiomyopathies is of utmost importance to start an early, individualized treatment in these high-risk patients. On the one hand, CMR represents the gold standard imaging technique to detect early and typical signs of ongoing myocardial remodelling in patients presenting with a 'hot phase' nonischemic cardiomyopathy, including myocardial oedema, perfusion abnormalities and pathological mapping values. On the other hand, CMR allows the differential diagnosis of other acute heart conditions, such as acute coronary syndromes, takotsubo syndrome, myocarditis, pericarditis and sarcoidosis. This review provides a deep overview of standard and novel CMR techniques to detect 'hot phases' of cardiomyopathies, as well as their clinical and prognostic utility.

Cardiac magnetic resonance (CMR) is a non-invasive imaging method that allows to characterize myocardial tissue. In particular, using the late gadolinium enhancement technique, it is possible to identify areas of focal fibrosis. Specific distribution patterns of this fibrosis allow us to distinguish ischaemic cardiomyopathy (iCMP) from non-ischaemic cardiomyopathy (nCMP) and sometimes to identify the aetiology of the latter. Diffuse fibrosis can also be identified using the parametric T1 mapping sequences. For this purpose, the native T1 of the tissue is measured before the administration of the contrast agent (c.a.) or the extracellular volume is calculated after c.a. Both focal and diffuse fibrosis evaluated with CMR appear to be strong prognostic predictors for the identification of threatening ventricular arrhythmias and sudden cardiac death. These evidence open the doors to a possible role of CMR in the selection of the patient to be sent to a defibrillator implant in primary prevention. In this review, we will briefly review the techniques used in CMR for the evaluation of fibrosis. We will then focus on the clinical role of myocardial tissue fibrosis detection in iCMP and nCMP.