Search Results (58)

Arrhythmogenic cardiomyopathy (ACM; MIM #107970) is a primitive heart muscle disease characterized by progressive myocardial loss and fibrosis or fibrofatty replacement, predisposing patients to ventricular arrhythmias, sudden cardiac death, and heart failure. Despite advances in imaging and genetics, early diagnosis remains challenging due to incomplete penetrance, variable phenotypic expressivity, and the fact that fatal arrhythmic events may often occur in the early stages of the disease. In this context, the identification of reliable biomarkers could enhance diagnostic accuracy, support risk stratification, and guide clinical management. This narrative review examines the current landscape of potential and emerging biomarkers in ACM, including troponins, natriuretic peptides, inflammatory proteins, microRNAs, fibrosis-related markers, and other molecules. Several of these biomarkers have demonstrated associations with disease severity, arrhythmic burden, or structural progression, although their routine clinical utility remains limited. The increasing relevance of genetic testing and non-invasive tissue characterization—particularly through cardiac imaging techniques—should also be emphasized as part of a multimodal diagnostic strategy in which biomarkers may play a complementary role. Although no single biomarker currently meets the criteria for a standalone diagnostic application, ongoing research into multi-marker panels and novel molecular targets offers promising perspectives. In conclusion, the integration of circulating biomarkers with imaging findings, genetic data, and clinical parameters may open new avenues for improving early detection and supporting personalized therapeutic strategies in patients with suspected ACM. Full article

Background: Mitral valve prolapse is a common valvular heart disorder, usually associated with a benign prognosis in the absence of significant mitral regurgitation. However, a subset of patients is at increased risk for complex ventricular arrhythmias and sudden cardiac death. Identifying these high-risk individuals remains a major clinical challenge. Case Summary: We present the case of a 71-year-old female patient with recurrent syncopal episodes, a strong family history of sudden cardiac death, and complex ventricular ectopy. Multimodality imaging revealed bileaflet mitral valve prolapse, severe mitral regurgitation, mitral annular disjunction, and the Pickelhaube sign, with no evidence of myocardial fibrosis on cardiac magnetic resonance imaging. The patient underwent minimally invasive mitral valve repair and received an implantable cardioverter-defibrillator for primary prevention of sudden cardiac death. Follow-up revealed significant reverse cardiac remodeling, marked reduction in arrhythmic burden, and restoration of mitral valve function. Family screening identified mitral annular disjunction in both of her daughters, who were asymptomatic and without arrhythmias. Discussion: Mitral annular disjunction has emerged as a potentially arrhythmogenic substrate, especially in patients with familial clustering, raising the possibility of a genetic predisposition. Risk stratification remains difficult, as no individual clinical, electrocardiographic, or imaging marker has demonstrated consistent predictive value. Surgical correction of mitral valve prolapse with associated mitral annular disjunction may lead to a reduction in arrhythmic risk and promote favorable structural remodeling. Conclusions: This case-based review emphasizes the importance of advanced imaging techniques in the identification and management of high-risk mitral valve prolapse phenotypes. Early surgical intervention and close arrhythmic surveillance may improve outcomes, although further research is necessary to define risk assessment tools and explore the genetic background of arrhythmogenic mitral valve disease. Full article

Hypertrophic cardiomyopathy (HCM) is a cardiac disorder characterized by unexplained left ventricular hypertrophy and a clinical presentation that is heterogeneous, ranging from asymptomatic cases to sudden cardiac death (SCD). The condition’s complex pathophysiology encompasses myocyte disarray, fibrosis, and impaired cellular metabolism. Advancements in non-invasive cardiac imaging, notably echocardiography and cardiac magnetic resonance (CMR), have led to substantial progress in the domains of early diagnosis, phenotypic characterization, and risk stratification. Echocardiography is the preferred diagnostic modality, as it provides a comprehensive evaluation of ventricular hypertrophy patterns, left ventricular outflow tract (LVOT) obstruction, mitral valve abnormalities, left atrial size, and diastolic function. Novel techniques, such as speckle-tracking strain imaging, have emerged as means to detect subclinical myocardial dysfunction and to provide significant prognostic information. Cine-CMR sequences, tissue characterization with late gadolinium enhancement, and quantitative techniques such as strain imaging have been shown to enhance diagnostic precision and prognostic evaluation. The integration of multimodality imaging has been demonstrated to enhance the management of patients with HCM, both in the short term and in the long term, by facilitating individualized monitoring. This review summarizes the role of cardiac imaging in the comprehensive evaluation of HCM, emphasizing the impact of these methods on diagnosis, risk assessment, and personalized patient care, particularly in challenging clinical settings, such as cases of athlete’s heart and pathological ventricular hypertrophy. Full article

The integration of organoids with biosensors serves as a miniaturized model of human physiology and diseases, significantly transforming the research frameworks surrounding drug development, toxicity testing, and personalized medicine. This review aims to provide a comprehensive framework for researchers to identify suitable technical approaches and to promote the advancement of organoid sensing towards enhanced biomimicry and intelligence. To this end, several primary methods for technology integration are systematically outlined and compared, which include microfluidic integrated systems, microelectrode array (MEA)-based electrophysiological recording systems, optical sensing systems, mechanical force sensing technologies, field-effect transistor (FET)-based sensing techniques, biohybrid systems based on synthetic biology tools, and label-free technologies, including impedance, surface plasmon resonance (SPR), and mass spectrometry imaging. Through multimodal collaboration such as the combination of MEA for recording electrical signals from cardiac organoids with micropillar arrays for monitoring contractile force, these technologies can overcome the limitations inherent in singular sensing modalities and enable a comprehensive analysis of the dynamic responses of organoids. Furthermore, this review discusses strategies for integrating strategies of multimodal sensing approaches (e.g., the combination of microfluidics with MEA and optical methods) and highlights future challenges related to sensor implantation in vascularized organoids, signal stability during long-term culture, and the standardization of clinical translation. Full article

Primary aldosteronism (PA), the most common cause of secondary hypertension, is increasingly recognized as an independent driver of adverse cardiac remodeling, mediated through mechanisms beyond elevated blood pressure alone. Chronic aldosterone excess leads to myocardial fibrosis, left ventricular hypertrophy, and diastolic dysfunction via mineralocorticoid receptor activation, oxidative stress, inflammation, and extracellular matrix dysregulation. These changes culminate in a distinct cardiomyopathy phenotype, often underrecognized in early stages. Multimodality cardiac imaging, led primarily by conventional and speckle-tracking echocardiography, and complemented by exploratory cardiac magnetic resonance (CMR) techniques such as T1 mapping and late gadolinium enhancement, enables non-invasive assessment of structural, functional, and tissue-level changes in aldosterone-mediated myocardial damage. While numerous studies have established the diagnostic and prognostic relevance of imaging in PA, several gaps remain. Specifically, the relative sensitivity of different modalities in detecting subclinical myocardial changes, the long-term prognostic significance of imaging biomarkers, and the differential impact of adrenalectomy versus medical therapy on cardiac reverse remodeling require further clarification. Moreover, the lack of standardized imaging-based criteria for defining and monitoring PA-related cardiomyopathy hinders widespread clinical implementation. This narrative review aims to synthesize current knowledge on the pathophysiological mechanisms of aldosterone-induced cardiac remodeling, delineate the strengths and limitations of existing imaging modalities, and critically evaluate the comparative effects of surgical and pharmacologic interventions. Emphasis is placed on early detection strategies, identification of imaging biomarkers with prognostic utility, and integration of multimodal imaging into clinical decision-making pathways. By outlining current evidence and highlighting key unmet needs, this review provides a framework for future research aimed at advancing personalized care and improving cardiovascular outcomes in patients with PA. Full article

Background: Granulomatous and amyloidogenic cardiomyopathies are infiltrative conditions that can be fatal if left untreated. Among these, cardiac amyloidosis and cardiac sarcoidosis are significant but often underdiagnosed causes of heart failure, each serving as cardiac manifestations of broader systemic diseases. Advancements in imaging techniques and the emergence of novel therapies—particularly for cardiac amyloidosis—have brought these conditions into sharper focus for both clinicians and researchers. Methods: We conducted a comprehensive review of the literature by searching databases including PubMed and Scopus for studies published since 1990 regarding clinical features, diagnostic techniques, and treatment strategies for cardiac amyloidosis and cardiac sarcoidosis. Studies were selected based on relevance to imaging methods, including echocardiography, cardiac magnetic resonance imaging (CMR), positron emission tomography (PET), and technetium-labeled nuclear scintigraphy, as well as treatment modalities for both conditions. Results: Imaging techniques, particularly CMR, technetium-labeled nuclear scan, and PET, were found to be crucial for the early identification and differentiation of cardiac amyloidosis and cardiac sarcoidosis. Distinct late gadolinium enhancement patterns were observed in CMR along with morphological differences, aiding in diagnosis. Technetium-labeled nuclear scintigraphy can definitively distinguish between subtypes of cardiac amyloidosis in the absence of paraproteinemia. Early diagnosis has been shown to significantly improve patient outcomes. Early treatment can reduce morbidity in both cardiomyopathies. Conclusions: Multimodality imaging can help in the early detection of cardiac amyloidosis and cardiac sarcoidosis. Treatment strategies differ substantially: cardiac amyloidosis is primarily managed with disease-modifying therapies for the transthyretin subtype and chemotherapy/stem cell transplant for the AL subtype, while cardiac sarcoidosis is treated with corticosteroids and immunosuppressive drugs to reduce inflammation. Early and accurate diagnosis through advanced imaging techniques is critical to improving outcomes for patients with these conditions. Full article

Cardiac tumors, though rare, present significant diagnostic and therapeutic challenges due to their heterogeneous nature and anatomical complexity. This narrative review synthesizes current evidence on prevalence, diagnostic modalities, and management strategies for primary and metastatic cardiac tumors. Echocardiography, cardiac MRI, and CT remain cornerstone imaging tools for differentiating tumors from non-neoplastic masses, while advances in PET/CT and tissue characterization techniques refine staging and treatment planning. Surgical resection with clear margins (R0) is critical for resectable tumors, particularly benign myxomas, though malignant tumors like sarcomas require multimodal approaches combining surgery, radiotherapy, and systemic therapies. Emerging strategies such as heart autotransplantation and staged resections offer promise for complex cases, while oligometastatic disease management highlights the role of stereotactic radiotherapy and immunotherapy. Key challenges include standardizing resection margins, optimizing neoadjuvant therapies, and addressing high recurrence rates in malignancies. Future directions emphasize integrating AI-driven imaging analysis, molecular biomarkers, and genomic profiling to personalize therapies, alongside global registries to enhance data on rare tumors. Equitable access to advanced diagnostics and multidisciplinary collaboration are essential to improve outcomes. This review underscores the need for standardized guidelines, technological innovation, and patient-centered research to address gaps in cardiac oncology. Full article

Background: Primary cardiac tumors (PCTs) are rare entities, with only a minority being malignant and capable of distant dissemination. Among the rarest and most challenging metastatic events are brain metastases originating from cardiac tumors. Due to the heart’s direct access to systemic circulation, even benign tumors such as atrial myxomas may cause cerebral embolic phenomena. Understanding the distinct biological behavior, diagnostic pathways, therapeutic strategies, and prognostic implications of these cases remains limited by the scarcity of the available literature. Methods: A systematic review was conducted following PRISMA guidelines. PubMed, Scopus, Embase, and other major databases were systematically searched using specific MeSH terms and keywords related to cardiac tumors and brain metastases. After applying strict inclusion and exclusion criteria, nineteen studies were included, comprising sixteen single-patient case reports and three multi-patient series. Extracted data included tumor histology, cardiac and brain imaging findings, neurological presentation, treatment approaches, and patient outcomes. Results: A total of 320 patients were analyzed. Atrial myxomas represented the predominant benign tumors causing embolic cerebral events, while angiosarcomas and other cardiac sarcomas were responsible for true hematogenous brain metastases. Brain involvement was frequently hemorrhagic and manifested with seizures, focal deficits, or signs of intracranial hypertension. Cardiac echocardiography and cardiac magnetic resonance imaging (CMR) were essential for tumor detection, while brain MRI, including SWI and DWI sequences, and CT scanning were critical for cerebral lesion characterization. Treatment strategies varied according to tumor type and included surgery, radiotherapy, and systemic therapies. Malignant cardiac tumors correlated with a poor prognosis, with median survival post-CNS involvement ranging from 12 to 14 months. Conclusions: Brain metastases from PCTs, though rare, represent a distinct and serious clinical phenomenon. Benign tumors like myxomas mainly cause embolic cerebral events, whereas malignant tumors, particularly sarcomas, lead to true metastatic brain lesions. Recognizing this biological distinction is crucial for diagnosis, prognostication, and therapeutic planning. An integrated multidisciplinary approach combining advanced cardiac and neuroimaging techniques is vital for early detection and appropriate management. Despite multimodal treatment, survival remains limited, underscoring the urgent need for novel targeted therapies and improved surveillance strategies. Full article

Background: Image-guided navigation has revolutionized precision cardiac interventions, yet current technologies face critical limitations in real-time guidance and procedural accuracy. Method: Here, we comprehensively evaluate state-of-the-art imaging modalities, from conventional fluoroscopy to emerging hybrid systems, analyzing their applications across coronary, structural, and electrophysiological interventions. Results: We demonstrate that novel approaches combining optical coherence tomography with near-infrared spectroscopy or fluorescence achieve unprecedented plaque characterization and procedural guidance through simultaneous structural and molecular imaging. Our analysis reveals key challenges, including imaging artifacts and resolution constraints, while highlighting recent technological solutions incorporating artificial intelligence and robotics. We show that non-imaging alternatives, such as fiber optic real-shape sensing and electromagnetic tracking, complement traditional techniques by providing real-time navigation without radiation exposure. This paper also discusses the integration of image-guided navigation techniques into augmented reality systems and patient-specific modeling, highlighting initial clinical studies that demonstrate their significant promise in reducing procedural times and improving accuracy. These findings establish a framework for next-generation cardiac interventions, emphasizing the critical role of multimodal imaging platforms enhanced by AI-driven decision support. Conclusions: We conclude that continued innovation in hybrid imaging systems, coupled with advances in automation, will be essential for optimizing procedural outcomes and expanding access to complex cardiac interventions. Full article

We discuss a case of a patient who was referred to our department for an in-depth evaluation of aortic regurgitation severity and its underlying causes. By employing a multimodal imaging strategy that combined transthoracic echocardiography (TTE), transesophageal echocardiography (TEE), and cardiac magnetic resonance imaging (cMRI), we successfully identified a particularly rare cause of aortic regurgitation: chordae tendineae that lead to asymmetric retraction of the aortic cusps. Furthermore, this approach provided a clearer understanding of the aortic root anatomy and the hemodynamic effects of the regurgitant flow on the ventricle. This case demonstrates the diagnostic effectiveness of various imaging techniques and emphasizes the crucial importance of multimodal imaging for a thorough assessment of aortic valvular issues. Full article

Aortic valve stenosis (AS) is a prevalent and progressive valvular disease that poses significant diagnostic challenges, particularly in low-flow, low-gradient (LF-LG) states. Accurate assessment of AS severity is crucial for timely intervention and improved clinical outcomes. This narrative review critically evaluates the limitations of conventional echocardiographic techniques and explores the role of multimodal imaging—including advanced echocardiography, computed tomography (CT), and cardiac magnetic resonance (CMR)—in enhancing diagnostic accuracy. Special emphasis is placed on the unique challenges of LF-LG AS, where standard Doppler-derived assessments may misclassify disease severity, necessitating a more integrative diagnostic approach. By addressing these key diagnostic uncertainties and proposing a multimodal framework for improved assessment, this review provides a comprehensive update on best practices in AS evaluation, with the goal of optimizing clinical decision making and patient outcomes. Full article

Cardiac masses are complex clinical conditions that frequently pose diagnostic challenges in cardiology practice. These masses can form within heart chambers or near the pericardium and are generally categorized as either non-neoplastic or neoplastic. These latter are further classified into benign and malignant (primary and secondary or metastatic). Diagnosing these conditions often requires a multiparametric approach that includes both clinical features, such as the patient’s and associated clinical conditions, and multimodality imaging. However, histological examination of the resected specimen is often necessary to ascertain the nature of the mass. Given their heterogeneity and the rarity of many cardiac masses, there are no guidelines or consensus on the best diagnostic approach. Modern imaging protocols must be tailored to the specific clinical issues and patient characteristics, given the rapid advancements in technology. Thus, it is imperative to use a multimodality approach, combining different imaging techniques and multidisciplinary teamwork. Hereby, we propose a practical algorithm for evaluating cardiac lesions using a step-by-step implementation of multimodal imaging. Ultimately, the goal is to tailor the most suitable imaging technique to the patient’s needs. Full article

Marfan syndrome (MFS) is a genetic disorder affecting connective tissue, often leading to cardiovascular complications such as aortic aneurysms and mitral valve prolapse. Cardiovascular multimodality imaging plays a crucial role in the diagnosis, monitoring, and management of MFS patients. This review explores the advancements in echocardiography, cardiovascular magnetic resonance (CMR), cardiac computed tomography (CCT), and nuclear medicine techniques in MFS. Echocardiography remains the first-line tool, essential for assessing aortic root, mitral valve abnormalities, and cardiac function. CMR provides detailed anatomical and functional assessments without radiation exposure, making it ideal for long-term follow-up. CT offers high-resolution imaging of the aorta, crucial for surgical planning, despite its ionizing radiation. Emerging nuclear medicine techniques, though less common, show promise in evaluating myocardial involvement and inflammatory conditions. This review underscores the importance of a comprehensive imaging approach to improve outcomes and guide interventions in MFS patients. It also introduces novel aspects of multimodality approaches, emphasizing their impact on early detection and management of cardiovascular complications in MFS. Full article

Cardiac involvement in cancer is increasingly important in the diagnosis and follow-up of patients. A thorough cardiovascular evaluation using multimodal imaging is crucial to assess any direct cardiac involvement from oncological disease progression and to determine the cardiovascular risk of patients undergoing oncological therapies. Early detection of cardiac dysfunction, particularly due to cardiotoxicity from chemotherapy or radiotherapy, is essential to establish the disease’s overall prognostic impact. Comprehensive cardiovascular imaging should be integral to the clinical management of cancer patients. Echocardiography remains highly effective for assessing cardiac function, including systolic performance and ventricular filling pressures, with speckle-tracking echocardiography offering early insights into chemotoxicity-related myocardial damage. Cardiac computed tomography (CT) provides precise anatomical detail, especially for cardiac involvement due to metastasis or adjacent mediastinal or lung tumors. Coronary assessment is also important for initial risk stratification and monitoring potential coronary artery disease progression after radiotherapy or chemotherapeutic treatment. Finally, cardiac magnetic resonance (CMR) is the gold standard for myocardial tissue characterization, aiding in the differential diagnosis of cardiac masses. CMR’s mapping techniques allow for early detection of myocardial inflammation caused by cardiotoxicity. This review explores the applicability of echocardiography, cardiac CT, and CMR in cancer patients with extracardiac tumors. Full article

Carcinoid heart disease (CHD) affects right-sided valves and causes significant mortality and morbidity. Even though the pathophysiology of the disease is not entirely understood, it is known that chronic exposure to high levels of circulating serotonin is the main factor responsible for developing valvular heart disease. Cardiac imaging plays a critical role in the management of CHD, so the final diagnosis can be performed through multimodal imaging techniques and the measurement of biomarkers. Moreover, in observational studies, surgical treatment of carcinoid-induced valve disease has been found to improve outcomes. Despite advancements in pre-operative preparation in recent years, mortality rates remain high in elderly patients and those with multiple comorbidities due to the risk of intra-operative carcinoid crisis and high post-operative bleeding. In this comprehensive review, we will analyze the causes of carcinoid syndrome and how it can result in severe right heart failure. The role of different imaging modalities in detecting heart valve disease will be discussed together with the therapeutic options at our disposal, such as medical treatment, surgery, and the novel role of transcatheter intervention. Full article