Endocrine disorders are increasingly recognized as potentially reversible causes of secondary cardiomyopathies,yet they often remain underdiagnosed in clinical practice.These conditions-including thyroid dysfunction,a...Endocrine disorders are increasingly recognized as potentially reversible causes of secondary cardiomyopathies,yet they often remain underdiagnosed in clinical practice.These conditions-including thyroid dysfunction,acromegaly,pheochromocytoma,diabetes mellitus,adrenal disorders,among others-can significantly alter cardiac structure and function through hormonal excess,metabolic remodeling,and neurohumoral activation.Hyperthyroidism may lead to high-output heart failure(HF)and atrial fibrillation,while hypothyroidism is associated with diastolic dysfunction,pericardial effusion,and accelerated atherosclerosis.Acromegaly promotes biventricular hypertrophy and myocardial fibrosis via insulin-like growth factor 1 overproduction.Pheochromocytoma triggers catecholamine-induced cardiomyopathy,resembling Takotsubo syndrome and carrying a high risk of mortality if left untreated.Diabetes induces a distinct phenotype of cardiomyopathy,affecting both systolic and diastolic function through microvascular injury and oxidative stress.Recognizing these endocrine etiologies is crucial,as targeted hormonal therapies-such as antithyroid agents,somatostatin analogs,or adrenalectomy-can reverse or significantly mitigate cardiac dysfunction.Comprehensive endocrine screening in patients with unexplained cardiomyopathy is therefore essential.This review synthesizes current knowledge on the pathophysiological mechanisms,clinical manifestations,and therapeutic strategies for endocrine cardiomyopathies and proposes a diagnostic algorithm for early recognition.Emerging biomarkers,such as galectin-3 in diabetic heart disease,may further enhance diagnostic accuracy and risk stratification.The interplay between endocrine and cardiovascular systems offers a unique opportunity for early intervention,potentially preventing progression to irreversible HF.展开更多
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 techniqu...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 impera-tive 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 ex-plores 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 detec-tion and differentiation of various cardiomyopathy subtypes.Additionally,it offers valuable insights into myocardial fibrosis,tissue viability,and left ven-tricular 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.展开更多
A clinical approach to new cardiomyopathy entails defining patient phenotype and disease pathophysiology.After echocardiography,invasive assessments to define hemodynamics and coronary anatomy are usually pursued.In s...A clinical approach to new cardiomyopathy entails defining patient phenotype and disease pathophysiology.After echocardiography,invasive assessments to define hemodynamics and coronary anatomy are usually pursued.In selected non-ischemic cases,endomyocardial biopsies are performed in search for an etiology.Fortunately,advances in cardiac imaging allow for a multifaceted cardiac evaluation in a single study,reducing cost,lead time to diagnosis,and procedural adverse events while still providing supreme accuracy.展开更多
Cardiac magnetic resonance(CMR),a non-radiation based type of examination,can achieve the simultaneous comprehensive multi-parameter,multi-plane,and multi-sequence evaluation of the anatomical structure of the heart;a...Cardiac magnetic resonance(CMR),a non-radiation based type of examination,can achieve the simultaneous comprehensive multi-parameter,multi-plane,and multi-sequence evaluation of the anatomical structure of the heart;and at the same time,determine systolic and diastolic function,and blood perfusion and tissue characteristics.Traditional late gadolinium enhancement imaging based on CMR reflects focal replacement fibrosis,in contrast to normal myocardial signal intensity,but cannot effectively identify diffuse myocardial fibrosis.T1 mapping and its derived extracellular volume fraction can be used to quantitatively analyze the extracellular space in myocardial tissue and evaluate diffuse myocardial interstitial fibrosis that is invisible to the naked eye.Diffusion tensor imaging reveals the direction of cardiomyocyte aggregates by quantifying the anisotropy of water molecule diffusion,and can be applied to evaluate the integrity of myocardial tissue and arrangement structure of myocardial microstructural characteristics.On the basis of the micro-motion of myocardial tissue,feature tracking analysis decomposes myocardial deformation into three dimensions of micro-mechanical changes,and can identify early systolic and diastolic dysfunction before heart enlargement or ejection fraction reduction.This Commentary discusses current research advances in these new techniques,as well as their clinical application prospects and limitations for non-ischemic cardiomyopathies.展开更多
Cardiomyopathies are defined as diseases of the myocardium with associated structural and functional abnormalities. Knowledge of these pathologies for a long period was not clear in clinical practice due to uncertaint...Cardiomyopathies are defined as diseases of the myocardium with associated structural and functional abnormalities. Knowledge of these pathologies for a long period was not clear in clinical practice due to uncertainties regarding definition,classification and clinical diagnosis. In recent decades,major advances have been made in the understanding of the molecular and genetic issues,pathophysiology,and clinical and radiological assessment of the diseases. Progress has been made also in management of several types of cardiomyopathy. Advances in the understanding of these diseases show that cardiomyopathies represent complex entities. Here,special attention is given to evolution of classification of cardiomyopathies,with the aim of assisting clinicians to look beyond schematic diagnostic labels in order to achieve more specific diagnosis. Knowledge of the genotype of cardiomyopathies has changed the pathophysiological understanding of their etiology and clinical course,and has become more important in clinical practice for diagnosis and prevention of cardiomyopathies. New approaches for clinical and prognostic assessment are provided based on contemporary molecular mechanisms of contribution in the pathogenesis of cardiomyopathies. The genotype-phe-notype complex approach for assessment improves the clinical evaluation and management strategies of these pathologies. The review covers also the important role of imaging methods,particularly echocardiography,and cardiac magnetic resonance imaging in the evaluation of different types of cardiomyopathies. In summary,this review provides complex presentation of current state of cardiomyopathies from genetics to management aspects for cardiovascular specialists.展开更多
The recent development of cardiac magnetic resonance(CMR)techniques has allowed detailed analyses of cardiac function and tissue characterization with high spatial resolution.We review characteristic CMR features in i...The recent development of cardiac magnetic resonance(CMR)techniques has allowed detailed analyses of cardiac function and tissue characterization with high spatial resolution.We review characteristic CMR features in ischemic and non-ischemic cardiomyopathies(ICM and NICM),especially in terms of the location and distribution of late gadolinium enhancement(LGE).CMR in ICM shows segmental wall motion abnormalities or wall thinning in a particular coronary arterial territory,and the subendocardial or transmural LGE.LGE in NICM generally does not correspond to any particular coronary artery distribution and is located mostly in the mid-wall to subepicardial layer.The analysis of LGE distribution is valuable to differentiate NICM with diffusely impaired systolic function,including dilated cardiomyopathy,end-stage hypertrophic cardiomyopathy(HCM),cardiac sarcoidosis,and myocarditis,and those with diffuse left ventricular(LV)hypertrophy including HCM,cardiac amyloidosis and Anderson-Fabry disease.A transient low signal intensity LGE in regions of severe LV dysfunction is a particular feature of stress cardiomyopathy.In arrhythmogenic right ventricular cardiomyopathy/dysplasia,an enhancement of right ventricular(RV)wall with functional and morphological changes of RV becomes apparent.Finally,the analyses of LGE distribution have potentials to predict cardiac outcomes and response to treatments.展开更多
Left ventricular twist is an essential part of left ventricular function. Nevertheless, knowledge is limited in "the cardiology community" as it comes to twist mechanics. Fortunately the development of speck...Left ventricular twist is an essential part of left ventricular function. Nevertheless, knowledge is limited in "the cardiology community" as it comes to twist mechanics. Fortunately the development of speckle tracking echocardiography, allowing accurate, reproducible and rapid bedside assessment of left ventricular twist, has boosted the interest in this important mechanical aspect of left ventricular deformation. Although the fundamental physiological role of left ventricular twist is undisputable, the clinical relevance of assessment of left ventricular twist in cardiomyopathies still needs to be established. The fact remains; analysis of left ventricular twist mechanics has already provided substantial pathophysiological understanding on a comprehensive variety of cardiomyopathies. It has become clear that increased left ventricular twist in for example hypertrophic cardiomyopathy may be an early sign of subendocardial(microvascular) dysfunction. Furthermore, decreased left ventricular twist may be caused by left ventricular dilatation or an extensive myocardial scar. Finally, the detection of left ventricular rigid body rotation in noncompaction cardiomyopathy may provide an indispensible method to objectively confirm this difficult diagnosis. All this endorses the value of left ventricular twist in the field of cardiomyopathies and may further encourage the implementation of left ventricular twist parameters in the "diagnostic toolbox" for cardiomyopathies.展开更多
Although some authors suggest that there is mitotic division in the heart,most cardiomyocytes do not have the capacity to regenerate after myocardial infarction and when this occurs there is a deterioration of contrac...Although some authors suggest that there is mitotic division in the heart,most cardiomyocytes do not have the capacity to regenerate after myocardial infarction and when this occurs there is a deterioration of contractile function,and if the area of infarction is extensive ventricular remodeling may occur,leading to the development of heart failure.Cell transplantation into the myocardium with the goal of recovery of cardiac function has been extensively studied in recent years. The effects of cell therapy are based directly on the cell type used and the type of cardiac pathology.For myocardial ischemia in the hibernating myocardium, bone marrow cells have functional benefits,however these results in transmural fibrosis are not evident. In these cases there is a benefit of implantation with skeletal myoblasts,for treating the underlying cause of disease,the loss of cell contractility.展开更多
Recent nationwide clinico-epidemiological surveys in Japan showed that the occurrence of cardiomyopathies was most frequently seen in the age of sixties, and that cardiomyopathies are important causes of heart failure...Recent nationwide clinico-epidemiological surveys in Japan showed that the occurrence of cardiomyopathies was most frequently seen in the age of sixties, and that cardiomyopathies are important causes of heart failure in the elderly. Viral infection was conventionally considered to cause myocarditis, which resulted in the development of dilated cardiomyopathy. Recent studies suggest that hepatitis C virus (HCV) is involved in the development of dilated cardiomyopathy, hypertrophic cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy in addition to myocarditis. Furthermore, left ventricular aneurysm represents the same morbid state not only after myocardial infarction but also after myocarditis. There were wide variations in the frequency of detection of HCV genomes in cardiomyopathy in different regions and in different populations. Major histocompatibility complex class Ⅱ genes may play a role in the susceptibility to HCV infection, and may influence the development of different phenotypes of cardiomyopathy. If in fact the myocardial damage is caused by HCV, it might be expected that interferon (IFN) administration would be useful for its treatment. Hepatitis patients receiving IFN treatment for hepatitis were screened by thallium myocardial scintigraphy, and an abnormality was discovered in half of the patients. Treatment with IFN resulted in a disappearance of the image abnormality. It has thus been suggested that mild myocarditis and myocardial damage may be cured with IFN. We have recently found that high concentrations of circulating cardiac troponin T are a specific marker of cardiac involvement in HCV infection. By measuring cardiac troponin T in patients with HCV infection, the prevalence of cardiac involvement in HCV infection will be clarified. We are proposing a collaborative work on a global network on myocarditis/cardiomyopathies due to HCV infection. (J Geriatr Cardiol 2004;1(2):83-89. )展开更多
Non-ischemic cardiomyopathies include a wide spectrum of disease states afflicting the heart, whether a primary process or secondary to a systemic condition. Cardiac magnetic resonance imaging(CMR) has established its...Non-ischemic cardiomyopathies include a wide spectrum of disease states afflicting the heart, whether a primary process or secondary to a systemic condition. Cardiac magnetic resonance imaging(CMR) has established itself as an important imaging modality in the evaluation of non-ischemic cardiomyopathies. CMR is useful in the diagnosis of cardiomyopathy, quantification of ventricular function, establishing etiology, determining prognosis and risk stratification. Technical advances and extensive research over the last decade have resulted in the accumulation of a tremendous amount of data with regards to the utility of CMR in these cardiomyopathies. In this article, we review CMR findings of various non-ischemic cardiomyopathies and focus on current literature investigating the clinical impact of CMR on risk stratification, treatment, and prognosis.展开更多
Transient stress-induced cardiomyopathies have been increasingly recognized and while rare,they tend to affect elderly women more than other demographic groups.One type,often called tako-tsubo cardiomyopathy （TTC）,i...Transient stress-induced cardiomyopathies have been increasingly recognized and while rare,they tend to affect elderly women more than other demographic groups.One type,often called tako-tsubo cardiomyopathy （TTC）,is typically triggered by significant emotional or physical stress and is associated with chest pain,electrocardiogram （ECG） changes and abnormal cardiac enzymes.Significant left ventricular regional wall motion abnormalities usually include an akinetic ＂ballooning＂ apex with normal or hyperdynamic function of the base.A second type,often called neurogenic stunned myocardium,typically associated with subarachnoid hemorrhage,also usually presents with ECG changes and positive enzymes,but the typical wall motion abnormalities seen include normal basal and apical left ventricular contraction with akinesis of the mid-cavity in a circumferential fashion.The pathophysiology,clinical care and typical courses,are reviewed.展开更多
Cardiomyopathies represent the most common clinical and genetic heterogeneous group of diseases that affect the heart function.Though progress has been made to elucidate the process,molecular mechanisms of different c...Cardiomyopathies represent the most common clinical and genetic heterogeneous group of diseases that affect the heart function.Though progress has been made to elucidate the process,molecular mechanisms of different classes of cardiomyopathies remain elusive.This paper aims to describe the similarities and differences in molecular features of dilated cardiomyopathy(DCM)and ischemic cardiomyopathy(ICM).We firstly detected the co-expressed modules using the weighted gene co-expression network analysis(WGCNA).Significant modules associated with DCM/ICM were identified by the Pearson correlation coefficient(PCC)between the modules and the phenotype of DCM/ICM.The differentially expressed genes in the modules were selected to perform functional enrichment.The potential transcription factors(TFs)prediction was conducted for transcription regulation of hub genes.Apoptosis and cardiac conduction were perturbed in DCM and ICM,respectively.TFs demonstrated that the biomarkers and the transcription regulations in DCM and ICM were different,which helps make more accurate discrimination between them at molecular levels.In conclusion,comprehensive analyses of the molecular features may advance our understanding of DCM and ICM causes and progression.Thus,this understanding may promote the development of innovative diagnoses and treatments.展开更多
Heart failure is the most common cause of hospitalization in the United States.Just as the prevalence of heart failure has increased,the number of diseases identifi ed that result in the heart failure syndrome has esc...Heart failure is the most common cause of hospitalization in the United States.Just as the prevalence of heart failure has increased,the number of diseases identifi ed that result in the heart failure syndrome has escalated.Certain cardiomyopathies that have previously been regarded as very rare are being recognized with increasing frequency,because of improved imaging techniques and an increased understanding of the pathophysiologic mechanisms that result in these diseases.Improved echocardiographic techniques and methods such as spectral Doppler and 3D image rendering,along with the use of advanced diagnostic tools such as cardiac CT angiography and cardiac magnetic resonance imaging are now common.These advanced imaging methods have led to an increased appreciation of the frequency of diseases such as isolated left ventricular noncompaction and cardiac amyloidosis.Left ventricular noncompaction,once thought to occur in roughly one in one million patients,may actually be seen in fewer than one in 1000 patients.Cardiac amyloidosis,in the senile form,may exist in 80% of 80-year-old patients,although the incidence of clinical symptoms is less.As the genetic alterations that contribute to these diseases are further elucidated,improved diagnosis and a better understanding of the prognosis of these uncommon cardiomyopathies will follow.展开更多
Among inherited cardiac conditions,a special place is kept by cardiomyopathies(CMPs)and channelopathies(CNPs),which pose a substantial healthcare burden due to the complexity of the therapeutic management and cause ea...Among inherited cardiac conditions,a special place is kept by cardiomyopathies(CMPs)and channelopathies(CNPs),which pose a substantial healthcare burden due to the complexity of the therapeutic management and cause early mortality.Like other inherited cardiac conditions,genetic CMPs and CNPs exhibit incomplete penetrance and variable expressivity even within carriers of the same pathogenic deoxyribonucleic acid variant,challenging our understanding of the underlying pathogenic mechanisms.Until recently,the lack of accurate physiological preclinical models hindered the investigation of fundamental cellular and molecular mechanisms.The advent of induced pluripotent stem cell(iPSC)technology,along with advances in gene editing,offered unprecedented opportunities to explore hereditary CMPs and CNPs.Hallmark features of iPSCs include the ability to differentiate into unlimited numbers of cells from any of the three germ layers,genetic identity with the subject from whom they were derived,and ease of gene editing,all of which were used to generate“disease-in-a-dish”models of monogenic cardiac conditions.Functionally,iPSC-derived cardiomyocytes that faithfully recapitulate the patient-specific phenotype,allowed the study of disease mechanisms in an individual-/allele-specific manner,as well as the customization of therapeutic regimen.This review provides a synopsis of the most important iPSC-based models of CMPs and CNPs and the potential use for modeling disease mechanisms,personalized therapy and deoxyribonucleic acid variant functional annotation.展开更多
Recent advances in cardiovascular genetics have transformed genetic testing into a valuable part of management of families with inherited cardiomyopathies.As novel mutations have been identified,understanding when to ...Recent advances in cardiovascular genetics have transformed genetic testing into a valuable part of management of families with inherited cardiomyopathies.As novel mutations have been identified,understanding when to consider genetic testing has emerged as an important consideration in the management of these cases.Specific genetic testing has a paramount importance in the risk stratification of family members,in the prognosis of probands at higher risk of a serious phenotype expression,and finally in the identification of new mutations,all of which are discussed in this review.The indications for each type of cardiomyopathy are described,along with the limitations of genetic testing.Finally,the importance of public sharing of variants in large data sets is emphasized.The ultimate aim of this review is to present key messages about the genetic testing process in order to minimize potential harms and provide suggestions to specialized clinicians who act as a part of a multidisciplinary team in order to offer the best care to families with inherited cardiomyopathies.展开更多
Background: Hypertrophic cardiomyopathy (HCM) is a form of cardiomyopathy that may involve several aspects.The aim of our study is to describe the epidemiological, diagnostic, therapeutic and short-term prognostic asp...Background: Hypertrophic cardiomyopathy (HCM) is a form of cardiomyopathy that may involve several aspects.The aim of our study is to describe the epidemiological, diagnostic, therapeutic and short-term prognostic aspects of this form of cardiomyopathy at the Sylvanus Olympio Teaching Hospital of Lome. Materials and Methods: This was a cross-sectional study that was carried out over a four-year period from January 1, 2016 to December 31, 2019. We included in this study, patients admitted to the Cardiology Department of the Sylvanus Olympio Teaching Hospital of Lome, in whom the diagnosis of hypertrophic cardiomyopathy was retained at echocardiography in the absence of any other cause that could explain the significant hypertrophy of the walls. Results: The prevalence of hypertrophic cardiomyopathies in our study was 0.31%. The mean age of patients was 51.35 ± 15.28 years with a male predominance (sex ratio M/F of 1.22). The majority of patients (60%) were between 45 and 74 years old. The clinical presentation was dominated by congestive heart failure in 15 patients (75%). Half of the patients (50%) had type III hypertrophic cardiomyopathy according to Maron’s classification. Seven patients (35%) had obstructive HCM and the mean thickness of the interventricular septum in diastole was 15.88. Left ventricular systolic function was impaired in 40% of patients. No patient was able to do a genetic test. The combination of beta-blocker (95%), an inhibitor of the renin- angiotensin-aldosterone system (90%) and furosemide (85%) constituted the essential part of the treatment combined with Lifestyle changes. No patients have benefited from implantable cardioverter defibrillators. The yearly mortality rate at the end of our study was 70%. Conclusion: Hypertrophic cardiomyopathy remains a relatively rare pathology. It is often a late diagnosis in the context of heart failure with limited therapeutic means, explaining its heavy morbidity and mortality.展开更多
Background: Cardiomyopathy is the main cause of heart failure in developing countries, mainly in Africa. In those areas the concept of “tropical cardiomyopathy” is still used to design all unexplained cardiomyopathy...Background: Cardiomyopathy is the main cause of heart failure in developing countries, mainly in Africa. In those areas the concept of “tropical cardiomyopathy” is still used to design all unexplained cardiomyopathy. The primary aim of this review is first to review the main etiologies of cardiomyopathies observed in tropical countries and second to gain a better understanding of the nosological place of the so-called “tropical cardiomyopathies” in the current framework of cardiomyopathies. Methods and Results: We reviewed relevant references over the last forty years (June, 1976 to May 2012). Given literature data, endomyocardial fibrosis (EMF) is mainly diagnosed in sub-Saharan countries, as well as Brazil and India. Peripartum cardiomyopathy (PPCM) is observed with a higher prevalence than in temperate countries. Sickle cell anemia does not induce specific cardiomyopathy in all echocardiographic studies. Malnutrition and chronic anemia can induce reversible cardiac dysfunction. Myocardial involvement in parasitic infections is restricted to Chagas disease and probably to human African trypanosomiasis. Helminthiasis is not involved in the pathogenesis of cardiomyopathy except for the deleterious effect of high eosinophilia induced by some endemic diseases (filariasis, schistosomiasis). Primary cardiomyopathies (dilated, hypertrophic, and restrictive cardiomyopathy) have no specificity. Arrhythmogenic right ventricular dysplasia and left ventricular noncompaction are also reported and do not differ from elsewhere. Conclusions: The concept of tropical cardiomyopathy is no longer relevant as most of the cardiomyopathies observed in tropical countries have no specificity, with few exceptions (PPCM, EMF, Chagas disease). In this context, the European Society of Cardiology classification offers a simpler clinical approach and allows the inclusion of the rare tropical specificities.展开更多
Cardiomyopathies are diseases of the cardiac muscle and are often characterized by ventricular dilation,hypertrophy,and cardiac arrhythmia.Patients with cardiomyopathies often experience sudden death and cardiac failu...Cardiomyopathies are diseases of the cardiac muscle and are often characterized by ventricular dilation,hypertrophy,and cardiac arrhythmia.Patients with cardiomyopathies often experience sudden death and cardiac failure and require cardiac transplantation during the course of disease progression.Early diagnosis,differential diagnosis,and genetic consultation depend on imaging techniques,genetic testing,and new emerging diagnostic tools such as serum biomarkers.The molecular genetics of cardiomyopathies has been widely studied recently.The discovery of mechanisms underlying heterogeneity and overlapping of the phenotypes of cardiomyopathies has revealed the existence of disease modifiers,and this has led to the emergence of novel disease-modifying therapy.This 2018-2019 state-of-the-art review outlines the pathogenesis,diagnosis,and treatment of cardiomyopathies in China.展开更多
Sudden cardiac death (SCD) remains a leading mode of death in western countries.Since SCD can be the first and last clinical presentation of the underlying disease,autopsy could be the only medical examination availab...Sudden cardiac death (SCD) remains a leading mode of death in western countries.Since SCD can be the first and last clinical presentation of the underlying disease,autopsy could be the only medical examination available for early diagnosis and it should be performed according to the guidelines of the Association for European Cardiovascular Pathology.Although the vast majority of SCD are due to coronary artery disease,non-ischemic causes of SCD do exist and are prevalent in young people with structural (i.e.arrhythmogenic,hypertrophic and inflammatory cardiomyopathy) and non-structural (ion channel diseases)cardiomyopathies,accounting for up to one half of cases.A standardized autopsy protocol,in combination with blood sampling to ensure feasibility of postmortem molecular testing if needed,is mandatory.The pathologist is called to provide the correct diagnosis and to advice the relatives on the need of a cascade clinical and genetic screening in the presence of a heredo-familial disease.展开更多
Human cardiac organoids have revolutionized the study of cardiac development,disease modeling,drug discovery,and regenerative therapies.This review systematically discusses strategies and progress in the construction ...Human cardiac organoids have revolutionized the study of cardiac development,disease modeling,drug discovery,and regenerative therapies.This review systematically discusses strategies and progress in the construction of cardiac organoids,categorizing them into three main types:cardiac spheroids,self-organizing/assembloid organoids,and organoid-on-a-chip systems.This review uniquely integrates the advances in vascularization,organ-on-chip design,and environmental cardiotoxicity modeling within cardiac organoid platforms,offering a critical synthesis that is absent in the literature.In the context of escalating environmental threats to cardiovascular health,there is an urgent need for physiologically relevant models to accurately identify cardiac toxicants and elucidate their underlying mechanisms of action.This review highlights advances in cardiac organoid applications for disease modeling—including congenital heart defects and acquired cardiovascular diseases—drug development,toxicity screening,and the study of environmentally induced cardiovascular pathogenesis.In addition,it critically examines ongoing challenges and underscores opportunities brought by bioengineering approaches.Finally,we propose future directions for developing standardized cardiac organoid platforms with clinical predictability,aiming to expand the utility of this technology across broader research applications.展开更多
文摘Endocrine disorders are increasingly recognized as potentially reversible causes of secondary cardiomyopathies,yet they often remain underdiagnosed in clinical practice.These conditions-including thyroid dysfunction,acromegaly,pheochromocytoma,diabetes mellitus,adrenal disorders,among others-can significantly alter cardiac structure and function through hormonal excess,metabolic remodeling,and neurohumoral activation.Hyperthyroidism may lead to high-output heart failure(HF)and atrial fibrillation,while hypothyroidism is associated with diastolic dysfunction,pericardial effusion,and accelerated atherosclerosis.Acromegaly promotes biventricular hypertrophy and myocardial fibrosis via insulin-like growth factor 1 overproduction.Pheochromocytoma triggers catecholamine-induced cardiomyopathy,resembling Takotsubo syndrome and carrying a high risk of mortality if left untreated.Diabetes induces a distinct phenotype of cardiomyopathy,affecting both systolic and diastolic function through microvascular injury and oxidative stress.Recognizing these endocrine etiologies is crucial,as targeted hormonal therapies-such as antithyroid agents,somatostatin analogs,or adrenalectomy-can reverse or significantly mitigate cardiac dysfunction.Comprehensive endocrine screening in patients with unexplained cardiomyopathy is therefore essential.This review synthesizes current knowledge on the pathophysiological mechanisms,clinical manifestations,and therapeutic strategies for endocrine cardiomyopathies and proposes a diagnostic algorithm for early recognition.Emerging biomarkers,such as galectin-3 in diabetic heart disease,may further enhance diagnostic accuracy and risk stratification.The interplay between endocrine and cardiovascular systems offers a unique opportunity for early intervention,potentially preventing progression to irreversible HF.
文摘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 impera-tive 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 ex-plores 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 detec-tion and differentiation of various cardiomyopathy subtypes.Additionally,it offers valuable insights into myocardial fibrosis,tissue viability,and left ven-tricular 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.
文摘A clinical approach to new cardiomyopathy entails defining patient phenotype and disease pathophysiology.After echocardiography,invasive assessments to define hemodynamics and coronary anatomy are usually pursued.In selected non-ischemic cases,endomyocardial biopsies are performed in search for an etiology.Fortunately,advances in cardiac imaging allow for a multifaceted cardiac evaluation in a single study,reducing cost,lead time to diagnosis,and procedural adverse events while still providing supreme accuracy.
基金funding from the National Key R&D Program of China(Nos.2021YFF0501400,2021YFF0501401,and 2021YFF0501404)the Key Project of the National Natural Science Foundation of China(No.81930044).
文摘Cardiac magnetic resonance(CMR),a non-radiation based type of examination,can achieve the simultaneous comprehensive multi-parameter,multi-plane,and multi-sequence evaluation of the anatomical structure of the heart;and at the same time,determine systolic and diastolic function,and blood perfusion and tissue characteristics.Traditional late gadolinium enhancement imaging based on CMR reflects focal replacement fibrosis,in contrast to normal myocardial signal intensity,but cannot effectively identify diffuse myocardial fibrosis.T1 mapping and its derived extracellular volume fraction can be used to quantitatively analyze the extracellular space in myocardial tissue and evaluate diffuse myocardial interstitial fibrosis that is invisible to the naked eye.Diffusion tensor imaging reveals the direction of cardiomyocyte aggregates by quantifying the anisotropy of water molecule diffusion,and can be applied to evaluate the integrity of myocardial tissue and arrangement structure of myocardial microstructural characteristics.On the basis of the micro-motion of myocardial tissue,feature tracking analysis decomposes myocardial deformation into three dimensions of micro-mechanical changes,and can identify early systolic and diastolic dysfunction before heart enlargement or ejection fraction reduction.This Commentary discusses current research advances in these new techniques,as well as their clinical application prospects and limitations for non-ischemic cardiomyopathies.
文摘Cardiomyopathies are defined as diseases of the myocardium with associated structural and functional abnormalities. Knowledge of these pathologies for a long period was not clear in clinical practice due to uncertainties regarding definition,classification and clinical diagnosis. In recent decades,major advances have been made in the understanding of the molecular and genetic issues,pathophysiology,and clinical and radiological assessment of the diseases. Progress has been made also in management of several types of cardiomyopathy. Advances in the understanding of these diseases show that cardiomyopathies represent complex entities. Here,special attention is given to evolution of classification of cardiomyopathies,with the aim of assisting clinicians to look beyond schematic diagnostic labels in order to achieve more specific diagnosis. Knowledge of the genotype of cardiomyopathies has changed the pathophysiological understanding of their etiology and clinical course,and has become more important in clinical practice for diagnosis and prevention of cardiomyopathies. New approaches for clinical and prognostic assessment are provided based on contemporary molecular mechanisms of contribution in the pathogenesis of cardiomyopathies. The genotype-phe-notype complex approach for assessment improves the clinical evaluation and management strategies of these pathologies. The review covers also the important role of imaging methods,particularly echocardiography,and cardiac magnetic resonance imaging in the evaluation of different types of cardiomyopathies. In summary,this review provides complex presentation of current state of cardiomyopathies from genetics to management aspects for cardiovascular specialists.
文摘The recent development of cardiac magnetic resonance(CMR)techniques has allowed detailed analyses of cardiac function and tissue characterization with high spatial resolution.We review characteristic CMR features in ischemic and non-ischemic cardiomyopathies(ICM and NICM),especially in terms of the location and distribution of late gadolinium enhancement(LGE).CMR in ICM shows segmental wall motion abnormalities or wall thinning in a particular coronary arterial territory,and the subendocardial or transmural LGE.LGE in NICM generally does not correspond to any particular coronary artery distribution and is located mostly in the mid-wall to subepicardial layer.The analysis of LGE distribution is valuable to differentiate NICM with diffusely impaired systolic function,including dilated cardiomyopathy,end-stage hypertrophic cardiomyopathy(HCM),cardiac sarcoidosis,and myocarditis,and those with diffuse left ventricular(LV)hypertrophy including HCM,cardiac amyloidosis and Anderson-Fabry disease.A transient low signal intensity LGE in regions of severe LV dysfunction is a particular feature of stress cardiomyopathy.In arrhythmogenic right ventricular cardiomyopathy/dysplasia,an enhancement of right ventricular(RV)wall with functional and morphological changes of RV becomes apparent.Finally,the analyses of LGE distribution have potentials to predict cardiac outcomes and response to treatments.
文摘Left ventricular twist is an essential part of left ventricular function. Nevertheless, knowledge is limited in "the cardiology community" as it comes to twist mechanics. Fortunately the development of speckle tracking echocardiography, allowing accurate, reproducible and rapid bedside assessment of left ventricular twist, has boosted the interest in this important mechanical aspect of left ventricular deformation. Although the fundamental physiological role of left ventricular twist is undisputable, the clinical relevance of assessment of left ventricular twist in cardiomyopathies still needs to be established. The fact remains; analysis of left ventricular twist mechanics has already provided substantial pathophysiological understanding on a comprehensive variety of cardiomyopathies. It has become clear that increased left ventricular twist in for example hypertrophic cardiomyopathy may be an early sign of subendocardial(microvascular) dysfunction. Furthermore, decreased left ventricular twist may be caused by left ventricular dilatation or an extensive myocardial scar. Finally, the detection of left ventricular rigid body rotation in noncompaction cardiomyopathy may provide an indispensible method to objectively confirm this difficult diagnosis. All this endorses the value of left ventricular twist in the field of cardiomyopathies and may further encourage the implementation of left ventricular twist parameters in the "diagnostic toolbox" for cardiomyopathies.
文摘Although some authors suggest that there is mitotic division in the heart,most cardiomyocytes do not have the capacity to regenerate after myocardial infarction and when this occurs there is a deterioration of contractile function,and if the area of infarction is extensive ventricular remodeling may occur,leading to the development of heart failure.Cell transplantation into the myocardium with the goal of recovery of cardiac function has been extensively studied in recent years. The effects of cell therapy are based directly on the cell type used and the type of cardiac pathology.For myocardial ischemia in the hibernating myocardium, bone marrow cells have functional benefits,however these results in transmural fibrosis are not evident. In these cases there is a benefit of implantation with skeletal myoblasts,for treating the underlying cause of disease,the loss of cell contractility.
文摘Recent nationwide clinico-epidemiological surveys in Japan showed that the occurrence of cardiomyopathies was most frequently seen in the age of sixties, and that cardiomyopathies are important causes of heart failure in the elderly. Viral infection was conventionally considered to cause myocarditis, which resulted in the development of dilated cardiomyopathy. Recent studies suggest that hepatitis C virus (HCV) is involved in the development of dilated cardiomyopathy, hypertrophic cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy in addition to myocarditis. Furthermore, left ventricular aneurysm represents the same morbid state not only after myocardial infarction but also after myocarditis. There were wide variations in the frequency of detection of HCV genomes in cardiomyopathy in different regions and in different populations. Major histocompatibility complex class Ⅱ genes may play a role in the susceptibility to HCV infection, and may influence the development of different phenotypes of cardiomyopathy. If in fact the myocardial damage is caused by HCV, it might be expected that interferon (IFN) administration would be useful for its treatment. Hepatitis patients receiving IFN treatment for hepatitis were screened by thallium myocardial scintigraphy, and an abnormality was discovered in half of the patients. Treatment with IFN resulted in a disappearance of the image abnormality. It has thus been suggested that mild myocarditis and myocardial damage may be cured with IFN. We have recently found that high concentrations of circulating cardiac troponin T are a specific marker of cardiac involvement in HCV infection. By measuring cardiac troponin T in patients with HCV infection, the prevalence of cardiac involvement in HCV infection will be clarified. We are proposing a collaborative work on a global network on myocarditis/cardiomyopathies due to HCV infection. (J Geriatr Cardiol 2004;1(2):83-89. )
文摘Non-ischemic cardiomyopathies include a wide spectrum of disease states afflicting the heart, whether a primary process or secondary to a systemic condition. Cardiac magnetic resonance imaging(CMR) has established itself as an important imaging modality in the evaluation of non-ischemic cardiomyopathies. CMR is useful in the diagnosis of cardiomyopathy, quantification of ventricular function, establishing etiology, determining prognosis and risk stratification. Technical advances and extensive research over the last decade have resulted in the accumulation of a tremendous amount of data with regards to the utility of CMR in these cardiomyopathies. In this article, we review CMR findings of various non-ischemic cardiomyopathies and focus on current literature investigating the clinical impact of CMR on risk stratification, treatment, and prognosis.
文摘Transient stress-induced cardiomyopathies have been increasingly recognized and while rare,they tend to affect elderly women more than other demographic groups.One type,often called tako-tsubo cardiomyopathy （TTC）,is typically triggered by significant emotional or physical stress and is associated with chest pain,electrocardiogram （ECG） changes and abnormal cardiac enzymes.Significant left ventricular regional wall motion abnormalities usually include an akinetic ＂ballooning＂ apex with normal or hyperdynamic function of the base.A second type,often called neurogenic stunned myocardium,typically associated with subarachnoid hemorrhage,also usually presents with ECG changes and positive enzymes,but the typical wall motion abnormalities seen include normal basal and apical left ventricular contraction with akinesis of the mid-cavity in a circumferential fashion.The pathophysiology,clinical care and typical courses,are reviewed.
基金supported by the National Natural Science Foundation of China under Grants No.61720106004 and No.61872405the Key R&D Project of Sichuan Province,China under Grants No.20ZDYF2772 and No.2020YFS0243.
文摘Cardiomyopathies represent the most common clinical and genetic heterogeneous group of diseases that affect the heart function.Though progress has been made to elucidate the process,molecular mechanisms of different classes of cardiomyopathies remain elusive.This paper aims to describe the similarities and differences in molecular features of dilated cardiomyopathy(DCM)and ischemic cardiomyopathy(ICM).We firstly detected the co-expressed modules using the weighted gene co-expression network analysis(WGCNA).Significant modules associated with DCM/ICM were identified by the Pearson correlation coefficient(PCC)between the modules and the phenotype of DCM/ICM.The differentially expressed genes in the modules were selected to perform functional enrichment.The potential transcription factors(TFs)prediction was conducted for transcription regulation of hub genes.Apoptosis and cardiac conduction were perturbed in DCM and ICM,respectively.TFs demonstrated that the biomarkers and the transcription regulations in DCM and ICM were different,which helps make more accurate discrimination between them at molecular levels.In conclusion,comprehensive analyses of the molecular features may advance our understanding of DCM and ICM causes and progression.Thus,this understanding may promote the development of innovative diagnoses and treatments.
文摘Heart failure is the most common cause of hospitalization in the United States.Just as the prevalence of heart failure has increased,the number of diseases identifi ed that result in the heart failure syndrome has escalated.Certain cardiomyopathies that have previously been regarded as very rare are being recognized with increasing frequency,because of improved imaging techniques and an increased understanding of the pathophysiologic mechanisms that result in these diseases.Improved echocardiographic techniques and methods such as spectral Doppler and 3D image rendering,along with the use of advanced diagnostic tools such as cardiac CT angiography and cardiac magnetic resonance imaging are now common.These advanced imaging methods have led to an increased appreciation of the frequency of diseases such as isolated left ventricular noncompaction and cardiac amyloidosis.Left ventricular noncompaction,once thought to occur in roughly one in one million patients,may actually be seen in fewer than one in 1000 patients.Cardiac amyloidosis,in the senile form,may exist in 80% of 80-year-old patients,although the incidence of clinical symptoms is less.As the genetic alterations that contribute to these diseases are further elucidated,improved diagnosis and a better understanding of the prognosis of these uncommon cardiomyopathies will follow.
文摘Among inherited cardiac conditions,a special place is kept by cardiomyopathies(CMPs)and channelopathies(CNPs),which pose a substantial healthcare burden due to the complexity of the therapeutic management and cause early mortality.Like other inherited cardiac conditions,genetic CMPs and CNPs exhibit incomplete penetrance and variable expressivity even within carriers of the same pathogenic deoxyribonucleic acid variant,challenging our understanding of the underlying pathogenic mechanisms.Until recently,the lack of accurate physiological preclinical models hindered the investigation of fundamental cellular and molecular mechanisms.The advent of induced pluripotent stem cell(iPSC)technology,along with advances in gene editing,offered unprecedented opportunities to explore hereditary CMPs and CNPs.Hallmark features of iPSCs include the ability to differentiate into unlimited numbers of cells from any of the three germ layers,genetic identity with the subject from whom they were derived,and ease of gene editing,all of which were used to generate“disease-in-a-dish”models of monogenic cardiac conditions.Functionally,iPSC-derived cardiomyocytes that faithfully recapitulate the patient-specific phenotype,allowed the study of disease mechanisms in an individual-/allele-specific manner,as well as the customization of therapeutic regimen.This review provides a synopsis of the most important iPSC-based models of CMPs and CNPs and the potential use for modeling disease mechanisms,personalized therapy and deoxyribonucleic acid variant functional annotation.
文摘Recent advances in cardiovascular genetics have transformed genetic testing into a valuable part of management of families with inherited cardiomyopathies.As novel mutations have been identified,understanding when to consider genetic testing has emerged as an important consideration in the management of these cases.Specific genetic testing has a paramount importance in the risk stratification of family members,in the prognosis of probands at higher risk of a serious phenotype expression,and finally in the identification of new mutations,all of which are discussed in this review.The indications for each type of cardiomyopathy are described,along with the limitations of genetic testing.Finally,the importance of public sharing of variants in large data sets is emphasized.The ultimate aim of this review is to present key messages about the genetic testing process in order to minimize potential harms and provide suggestions to specialized clinicians who act as a part of a multidisciplinary team in order to offer the best care to families with inherited cardiomyopathies.
文摘Background: Hypertrophic cardiomyopathy (HCM) is a form of cardiomyopathy that may involve several aspects.The aim of our study is to describe the epidemiological, diagnostic, therapeutic and short-term prognostic aspects of this form of cardiomyopathy at the Sylvanus Olympio Teaching Hospital of Lome. Materials and Methods: This was a cross-sectional study that was carried out over a four-year period from January 1, 2016 to December 31, 2019. We included in this study, patients admitted to the Cardiology Department of the Sylvanus Olympio Teaching Hospital of Lome, in whom the diagnosis of hypertrophic cardiomyopathy was retained at echocardiography in the absence of any other cause that could explain the significant hypertrophy of the walls. Results: The prevalence of hypertrophic cardiomyopathies in our study was 0.31%. The mean age of patients was 51.35 ± 15.28 years with a male predominance (sex ratio M/F of 1.22). The majority of patients (60%) were between 45 and 74 years old. The clinical presentation was dominated by congestive heart failure in 15 patients (75%). Half of the patients (50%) had type III hypertrophic cardiomyopathy according to Maron’s classification. Seven patients (35%) had obstructive HCM and the mean thickness of the interventricular septum in diastole was 15.88. Left ventricular systolic function was impaired in 40% of patients. No patient was able to do a genetic test. The combination of beta-blocker (95%), an inhibitor of the renin- angiotensin-aldosterone system (90%) and furosemide (85%) constituted the essential part of the treatment combined with Lifestyle changes. No patients have benefited from implantable cardioverter defibrillators. The yearly mortality rate at the end of our study was 70%. Conclusion: Hypertrophic cardiomyopathy remains a relatively rare pathology. It is often a late diagnosis in the context of heart failure with limited therapeutic means, explaining its heavy morbidity and mortality.
文摘Background: Cardiomyopathy is the main cause of heart failure in developing countries, mainly in Africa. In those areas the concept of “tropical cardiomyopathy” is still used to design all unexplained cardiomyopathy. The primary aim of this review is first to review the main etiologies of cardiomyopathies observed in tropical countries and second to gain a better understanding of the nosological place of the so-called “tropical cardiomyopathies” in the current framework of cardiomyopathies. Methods and Results: We reviewed relevant references over the last forty years (June, 1976 to May 2012). Given literature data, endomyocardial fibrosis (EMF) is mainly diagnosed in sub-Saharan countries, as well as Brazil and India. Peripartum cardiomyopathy (PPCM) is observed with a higher prevalence than in temperate countries. Sickle cell anemia does not induce specific cardiomyopathy in all echocardiographic studies. Malnutrition and chronic anemia can induce reversible cardiac dysfunction. Myocardial involvement in parasitic infections is restricted to Chagas disease and probably to human African trypanosomiasis. Helminthiasis is not involved in the pathogenesis of cardiomyopathy except for the deleterious effect of high eosinophilia induced by some endemic diseases (filariasis, schistosomiasis). Primary cardiomyopathies (dilated, hypertrophic, and restrictive cardiomyopathy) have no specificity. Arrhythmogenic right ventricular dysplasia and left ventricular noncompaction are also reported and do not differ from elsewhere. Conclusions: The concept of tropical cardiomyopathy is no longer relevant as most of the cardiomyopathies observed in tropical countries have no specificity, with few exceptions (PPCM, EMF, Chagas disease). In this context, the European Society of Cardiology classification offers a simpler clinical approach and allows the inclusion of the rare tropical specificities.
基金This work was supported by the National Key Research and Development Program of China(No.2016YFC0901500)Beijing Training Program of Innovation and Entrepreneurship for college students(No.2019zlgc0643)。
文摘Cardiomyopathies are diseases of the cardiac muscle and are often characterized by ventricular dilation,hypertrophy,and cardiac arrhythmia.Patients with cardiomyopathies often experience sudden death and cardiac failure and require cardiac transplantation during the course of disease progression.Early diagnosis,differential diagnosis,and genetic consultation depend on imaging techniques,genetic testing,and new emerging diagnostic tools such as serum biomarkers.The molecular genetics of cardiomyopathies has been widely studied recently.The discovery of mechanisms underlying heterogeneity and overlapping of the phenotypes of cardiomyopathies has revealed the existence of disease modifiers,and this has led to the emergence of novel disease-modifying therapy.This 2018-2019 state-of-the-art review outlines the pathogenesis,diagnosis,and treatment of cardiomyopathies in China.
基金This work was supported by the Registry for cardiac cerebro-vascular Pathology,Veneto RegionMinistry of Education,University and Research[grant number PRIN 2015ZLNETW]Ministry of Health[grant number RF-2016-02363774].
文摘Sudden cardiac death (SCD) remains a leading mode of death in western countries.Since SCD can be the first and last clinical presentation of the underlying disease,autopsy could be the only medical examination available for early diagnosis and it should be performed according to the guidelines of the Association for European Cardiovascular Pathology.Although the vast majority of SCD are due to coronary artery disease,non-ischemic causes of SCD do exist and are prevalent in young people with structural (i.e.arrhythmogenic,hypertrophic and inflammatory cardiomyopathy) and non-structural (ion channel diseases)cardiomyopathies,accounting for up to one half of cases.A standardized autopsy protocol,in combination with blood sampling to ensure feasibility of postmortem molecular testing if needed,is mandatory.The pathologist is called to provide the correct diagnosis and to advice the relatives on the need of a cascade clinical and genetic screening in the presence of a heredo-familial disease.
基金supported by the Innovation Promotion Program of NHC and Shanghai Key Labs,SIBPT(grant number PT2025-01)。
文摘Human cardiac organoids have revolutionized the study of cardiac development,disease modeling,drug discovery,and regenerative therapies.This review systematically discusses strategies and progress in the construction of cardiac organoids,categorizing them into three main types:cardiac spheroids,self-organizing/assembloid organoids,and organoid-on-a-chip systems.This review uniquely integrates the advances in vascularization,organ-on-chip design,and environmental cardiotoxicity modeling within cardiac organoid platforms,offering a critical synthesis that is absent in the literature.In the context of escalating environmental threats to cardiovascular health,there is an urgent need for physiologically relevant models to accurately identify cardiac toxicants and elucidate their underlying mechanisms of action.This review highlights advances in cardiac organoid applications for disease modeling—including congenital heart defects and acquired cardiovascular diseases—drug development,toxicity screening,and the study of environmentally induced cardiovascular pathogenesis.In addition,it critically examines ongoing challenges and underscores opportunities brought by bioengineering approaches.Finally,we propose future directions for developing standardized cardiac organoid platforms with clinical predictability,aiming to expand the utility of this technology across broader research applications.
