BACKGROUND Dilated cardiomyopathy(DCM)is a common cause of systolic heart failure,and is the most prevalent type of non-ischemic cardiomyopathy.Primary hyperparathyroidism(PHPT)is characterized by hypercalcemia and ex...BACKGROUND Dilated cardiomyopathy(DCM)is a common cause of systolic heart failure,and is the most prevalent type of non-ischemic cardiomyopathy.Primary hyperparathyroidism(PHPT)is characterized by hypercalcemia and excessive secretion of parathyroid hormone(PTH).Generally,PHPT is asymptomatic and is incidentally identified during routine laboratory assessments.CASE SUMMARY This case report details a 52-year-old man diagnosed with DCM and refractory hypercalcemia,who presented with clinical manifestations including dyspnea,recurrent anorexia,and abdominal distention.Laboratory investigations indicated an elevated serum PTH level,and the sestamibi scan suggested the presence of a parathyroid adenoma.Hence,the patient underwent a parathyroidectomy,which pathologically confirmed the diagnosis of a parathyroid adenoma.Postoperatively,the patient's hypercalcemia was corrected,the dimensions of the cardiac chambers were reduced,and there was a marked improvement in cardiac function.CONCLUSION Our findings emphasize the importance of PTH assessment in patients with DCM and concurrent hypercalcemia.展开更多
Objective:Qiliqiangxin(QLQX)capsule,a traditional Chinese medicine used for treating heart failure(HF),can modulate inflammatory cytokines in rats with myocardial infarction.However,its immune-regulating effect on dil...Objective:Qiliqiangxin(QLQX)capsule,a traditional Chinese medicine used for treating heart failure(HF),can modulate inflammatory cytokines in rats with myocardial infarction.However,its immune-regulating effect on dilated cardiomyopathy(DCM)remains unknown.The aim of this study was to investigate whether QLQX has a unique regulatory role in the imbalance of pro-and anti-inflammatory cytokines in patients with DCM.Methods:The QLQX-DCM is a randomized,double-blind trial conducted at 24 tertiary hospitals in China.A total of 345 patients with newly diagnosed virus-induced DCM were randomly assigned to receive QLQX capsules or placebo while receiving optimal medical therapy for HF.The primary endpoints were changes in plasma inflammatory cytokines and improvements in left ventricular ejection fraction(LVEF)and left ventricular end-diastolic diameter(LVEDd)over the 12-month treatment.Results:At the 12-month follow-up,the levels of IFN-γ,IL-17,TNF-ɑ,and IL-4 decreased significantly,while the level of IL-10 increased in both groups compared with baselines(all P<0.0001).Furthermore,these changes,coupled with improvements in LVEF,NT-proBNP and New York Heart Association(NYHA)functional classification,excluding the LVEDd in the QLQX group,were greater than those in the placebo group(all P<0.001).Additionally,compared with placebo,QLQX treatment also reduced all-cause mortality and rehospitalization rates by 2.17%and 2.28%,respectively,but the difference was not statistically significant.Conclusion:QLQX has the potential to alleviate the imbalance of inflammatory cytokines in patients with DCM,potentially leading to further improvements in cardiac function when combined with anti-HF standard medications.展开更多
BACKGROUND Polyneuropathy,organomegaly,endocrinopathy,M-protein,skin changes(POEMS)syndrome is a rare paraneoplastic syndrome that encompass multiple systems.The most common clinical symptoms of POEMS syndrome are pro...BACKGROUND Polyneuropathy,organomegaly,endocrinopathy,M-protein,skin changes(POEMS)syndrome is a rare paraneoplastic syndrome that encompass multiple systems.The most common clinical symptoms of POEMS syndrome are pro-gressive sensorimotor polyneuropathy,organ enlargement,endocrine disorders,darkening skin,a monoclonal plasma cell proliferative disorder,and lymph node hyperplasia.The organomegaly consists of hepatosplenomegaly and/or lym-phadenopathy;cases of cardiomyopathy are rare.Diagnoses are often delayed because of the atypical nature of the syndrome,exposing patients to possibly severe disability.Therefore,identifying atypical symptoms can improve the prognosis and quality of life among POEMS syndrome patients.lenalidomide and dexamethasone.CONCLUSION When patients with cardiomyopathy have systemic manifestations such as numb limbs and darkening skin,the POEMS syndrome is the most possible diagnosis.展开更多
Background:Since 2015,the pulmonary artery banding(PAB),following the Giessen protocol,has treated endstage heart failure in selected infants with preserved right ventricular function,acting as a bridge to transplant ...Background:Since 2015,the pulmonary artery banding(PAB),following the Giessen protocol,has treated endstage heart failure in selected infants with preserved right ventricular function,acting as a bridge to transplant or recovery,as a result of ventricular-ventricular interaction.Objectives:To elucidate whether PAB is a feasible and reproducible procedure in a rodent model of pharmacologically induced dilated cardiomyopathy(DCM)and to evaluate PAB-induced ventricular rehabilitation.Methods:We used 49 Sprague-Dawley rats divided into four groups:a sham surgery control group,a healthy animal group undergoing PAB,a doxorubicin(DOX)-treated control group,and a DOX+PAB-treated group.All underwent echocardiographic,histological,and molecular analyses.Results:Preliminary results showed high mortality in rats with DOX-induced DCM,with contractile dysfunction confirmed by 2D echocardiography.Signs of damage were detected through transmission electron microscopy,but not via standard histological/molecular tests.PAB after DOX improved contractile function,enhancing ejection fraction(p=0.01)and fractional shortening(p=0.03).Conclusion:The DOX-induced DCM model,while reproducible,may not reflect DCM’s true pathology.High mortality and individual variability limited the study.Further research is needed to find alternative models with lower mortality and to explore the PAB-induced molecular signaling pathways and cardiac proliferation potential.展开更多
Objective: To screen and analyze the differentially expressed genes between dilated cardiomyopathy (DCM) and chronic heart failure (CHF) based on bioinformatics methods. Methods: The Gene Expression Omnibus (GEO) data...Objective: To screen and analyze the differentially expressed genes between dilated cardiomyopathy (DCM) and chronic heart failure (CHF) based on bioinformatics methods. Methods: The Gene Expression Omnibus (GEO) database was used for data retrieval, and the chip data GSE3585 was downloaded, which was the original data of DCM and normal control group. At the same time, the chip data GSE76701 was downloaded, which was the original data of CHF and control group. Differentially expressed mRNAs (DEmRNAs) were screened by R language limma package, the data were standardized, and the common differentially expressed genes were screened. GO function and KEGG pathway enrichment analysis were performed on the common differentially expressed genes. String11.0 online tool was used for data analysis to obtain differentially expressed genes, and the results were imported into Cytoscape 3.9.1 software. The results were imported into Cytoscape 3.9.1 software, and the common expression gene module was obtained by MOCDE algorithm. Nine Hub genes were obtained by 10 algorithms such as MCC. Results: A total of 248 differentially expressed genes were screened. GO analysis showed that differentially expressed genes were mainly concentrated in 9 different physiological and pathological processes. KEGG analysis showed that the main signaling pathways involved in differentially expressed genes were 2, and 9 key differentially expressed genes were predicted: NPPB, NPPA, MYH6, FRZB, ASPN, SFRP4, RPS4Y1, DDX3Y. Conclusion: This study preliminarily explored the molecular mechanism of DCM and CHF, and obtained the common differentially expressed genes of the two diseases. Further experimental studies are needed to verify the correlation between gene expression and clinicopathological features. Provide new ideas for clinical drug treatment research.展开更多
Dilated cardiomyopathy(DCM),a severe heart disease,is the leading cause of heart failure and sudden cardiac death worldwide.DCM is defined by a dilated and deficient systolic left ventricle(LV),and is a major risk fac...Dilated cardiomyopathy(DCM),a severe heart disease,is the leading cause of heart failure and sudden cardiac death worldwide.DCM is defined by a dilated and deficient systolic left ventricle(LV),and is a major risk factor for morbidity and mortality worldwide.DCM progression can be ascribed to genetic and non-genetic factors,including hypertension,infectious agents,toxins,and drugs.Sarcomere genes play crucial roles in myocardial cells’physical structure and physiological function.展开更多
Dilated cardiomyopathy(DCM)is a common myocardial disease characterized by enlargement of the heart cavity and decreased systolic function,often leading to heart failure(HF)and arrhythmia.The occurrence of atrial fibr...Dilated cardiomyopathy(DCM)is a common myocardial disease characterized by enlargement of the heart cavity and decreased systolic function,often leading to heart failure(HF)and arrhythmia.The occurrence of atrial fibrillation(AF)is closely related to the progression and prognosis of the disease.In recent years,with the advancement of medical imaging and biomarkers,models for predicting the occurrence of AF in DCM patients have gradually become a research hotspot.This article aims to review the current situation of AF in DCM patients and explore the importance and possible methods of constructing predictive models to provide reference for clinical prevention and treatment.We comprehensively analyzed the risk factors for AF in DCM patients from epidemiological data,pathophysiological mechanisms,clinical and laboratory indicators,electrocardiogram and imaging parameters,and biomarkers,and evaluated the effectiveness of existing predictive models.Through analysis of existing literature and research,this article proposes a predictive model that integrates multiple parameters to improve the accuracy of predicting AF in DCM patients and provide a scientific basis for personalized treatment.展开更多
Antibodies against &-adrenoceptor can be detected in serum of patients with dilated cardiomyopathy (DCM), which have 5-agonist-like activity, and induce a positive chronotropic effect on cardiac myocytes by its pe...Antibodies against &-adrenoceptor can be detected in serum of patients with dilated cardiomyopathy (DCM), which have 5-agonist-like activity, and induce a positive chronotropic effect on cardiac myocytes by its persistence at full strength. Effects of the antibodies against Padrenoceptor from sera of patients with DCM on myocardial cytotoxicity and cytoplasmic free Ca2+-concentration (LCa2+ji) were observed in the cultured single layer SD rat ventricular cells by using the cytotoxicity assay and fluorescent Ca2+- indicat0r fura-2/AM. The positive sera of the anti-&adrenoceptor antibodies from patients with DCM markedly enhanced myocardial [Ca2+]i. Betaloc, a 5, -receptor blocker, might inhibit the increase of the antibody-mediated myocardial [Ca2+]i, and the sera from healthy donors had no effect on myocardial [Ca2+]i,. Our results suggest that the anti-β-adrenoceptor antibody might increase myocardial [Ca2+]i, and result in myocardial damage. The antibodies might activate receptor-gating Ca2+-channel, thereby causing myocardial [Ca2+]i, rise and calcium overload. Early use of betaloc is recommended in the treatment of dilated cardiomyopathy.展开更多
Myocardial fiber deformation measurements have been reported to be associated with adverse outcomes in patients with acute heart failure and those with myocardial infarction.However,few studies have addressed the prog...Myocardial fiber deformation measurements have been reported to be associated with adverse outcomes in patients with acute heart failure and those with myocardial infarction.However,few studies have addressed the prognostic value of global circumferential strain(GCS)in dilated cardiomyopathy(DCM)patients with severely impaired systolic function.This study aimed to evaluate the prognostic value of cardiac magnetic resonance(CMR)-derived GCS in DCM patients with severely reduced ejection.Consecutive DCM patients with severely reduced ejection fraction(EF<35%)who underwent CMR were included.GCS was calculated from CMR cine images.The clinical endpoint was a composite of all-cause mortality,heart transplantation,implantable cardioverter defibrillator(ICD)implantation and aborted sudden cardiac death(SCD).A total of 129 patients with a mean EF of 15.33%(11.36%–22.27%)were included.During a median follow-up of 518 days,endpoint events occurred in 50 patients.Patients with GCS≥the median(−5.17%)had significantly reduced event-free survival as compared with those with GCS<the median(P<0.01).GCS was independently associated with adverse events after adjusting for clinical and imaging risk factors including extent of late gadolinium enhancement(LGE)(P<0.05).Adding GCS into the model including the extent of LGE resulted in significant improvements in the C-statistic(from 0.706 to 0.742;P<0.05)with a continuous net reclassification improvement(NRI)of 29.71%.It was concluded that GCS derived from CMR could be useful for risk stratification in DCM patients with severely reduced EF,which may increase common imaging risk factors including LGE.展开更多
To compare the continuous infusion and intermittent bolus injection administration protocols of doxorubicin（Dox） under the same cumulative dose（12 mg/kg）, and establish a rat dilated cardiomyopathy model with impr...To compare the continuous infusion and intermittent bolus injection administration protocols of doxorubicin（Dox） under the same cumulative dose（12 mg/kg）, and establish a rat dilated cardiomyopathy model with improved survival, a total of 150 Sprague-Dawley（SD） rats were divided into three groups： a control group, administered with normal saline; a Dox 1 group, administration twice a week at 1 mg/kg; a Dox 2, administration once a week at 2 mg/kg. Mortality rates in the Dox 1 and Dox 2 groups were 22% and 48%, respectively（P〈0.05）. As shown by echocardiography, both Dox groups exhibited significant chamber dilatation and reduced cardiac function（all P〈0.05 vs. control）. Plasma brain natriuretic peptide and C-reactive protein concentrations were significantly increased（P〈0.05） with both Dox regimens. The concentrations of Caspase-3 in myocardial tissues of rats significantly increased in both doxorubicin regimens. Myocardial metabolism imaging by histology and ^18F-fluoro-deoxyglucose-positron emission tomography（^18FDG-PET） both revealed decreased myocardial viability and necrosis, and even interstitial fibrosis, in left ventricles（LVs） in both Dox groups. Serum creatinine and aspartate aminotransferase concentrations were significantly higher in the Dox 2 model than in the Dox 1 model. Doxorubicin given at both regimens induced dilated cardiomyopathy, while its administration at lower doses with more frequent infusions reduced the mortality rate.展开更多
Objective:Mutations in LIM domain binding 3(LDB3)gene cause idiopathic dilated cardiomyopathy(IDCM),a structural heart disease with a complicated genetic background.However,the association of polymorphisms in the LDB3...Objective:Mutations in LIM domain binding 3(LDB3)gene cause idiopathic dilated cardiomyopathy(IDCM),a structural heart disease with a complicated genetic background.However,the association of polymorphisms in the LDB3 gene with susceptibility to IDCM in Chinese populations remains unexplored as dose the impact on clinical presentation.Methods:We sequenced all exons and the adjacent part of introns of the LDB3 gene in 159 Chinese Han IDCM patients and 247 healthy controls.Then we detected the distribution of polymorphisms in the LDB3 gene in all participants and assessed their associations with risk of IDCM.Additionally,we conducted a stratified genotype–phenotype correlation analysis.Results:The A allele of rs4468255 was significantly associated with IDCM(P<0.01).The rs4468255,rs11812601,rs56165849,and rs3740346 were also associated with diastolic blood pressure(DBP)and left ventricular ejection fraction(LVEF)(P<0.05).Notably,a higher frequency of rs4468255 polymorphism was observed in implantable cardioverter defibrillator(ICD)recipients under a recessive model(P<0.01),whereas the significant association disappeared after adjusting for potential confounders.However,in the dominant model,notable correlations could only be observed after adjusting for multi parameters.Conclusions:The rs4468255 was significantly correlated with IDCM of Chinese Han population.A allele of rs4468255 is higher in IDCM patients with ICD implantation,suggesting the influence of genetic background in the generation of this response.In addition,rs11812601,rs56165849,and rs3740346 in LDB3 show association with brain natriuretic peptide,DBP,and LVEF levels in patients with IDCM but did not show any association with IDCM susceptibility.展开更多
BACKGROUND Nemaline myopathy(NM)is a rare type of congenital myopathy,with an incidence of 1:50000.Patients with NM often exhibit hypomyotonia and varying degrees of muscle weakness.Skeletal muscles are always affecte...BACKGROUND Nemaline myopathy(NM)is a rare type of congenital myopathy,with an incidence of 1:50000.Patients with NM often exhibit hypomyotonia and varying degrees of muscle weakness.Skeletal muscles are always affected by this disease,while myocardial involvement is uncommon.However,with improvements in genetic testing technology,it has been found that NM with a mutation in the myopalladin(MYPN)gene not only causes slow,progressive muscle weakness but also results in dilated or hypertrophic cardiomyopathy.CASE SUMMARY A 3-year-old pre-school boy was admitted to our hospital with cough,edema,tachypnea,and an increased heart rate.The patient was clinically diagnosed with severe dilated cardiomyopathy and heart failure,and subsequent gene examination confirmed the diagnosis of NM with a mutation in MYPN.Captopril,diuretics,low-dose digoxin,and dobutamine were administered.After 22 d of hospitalization,the patient was discharged due to the improvement of clinical symptoms.During the follow-up period,the patient died of refractory heart failure.CONCLUSION Decreased muscular tone and dilated cardiomyopathy are common features of MYPN-mutated NM.Heart transplantation may be a solution to this type of cardiomyopathy.展开更多
Objective To evaluate the efficacy and safety of long-term treatment with arotinolol in patients with idiopathic dilated cardiomyopathy(IDCM).Methods Sixty-three patients with IDCM were evaluated at baseline and after...Objective To evaluate the efficacy and safety of long-term treatment with arotinolol in patients with idiopathic dilated cardiomyopathy(IDCM).Methods Sixty-three patients with IDCM were evaluated at baseline and after 12-month therapy with arotinolol.The conventional therapy for congestive heart failure was continued throughout the study with arotinolol as the only β-blocker.Left ventricular function was assessed with the New York Heart Association functional class and two-dimensional echocardiography.Results After 12-month arotinolol treatment,there was a significant improvement in left ventricular systolic function.Left ventricular end-systolic dimension significantly decreased from 59.52±8.83 mm to 50.89±8.17 mm(P<0.001).Left ventricular ejection fraction significantly increased from 27.39%±7.94% to 41.13%±9.45%(P<0.001).Left ventricular mass index decreased from 150.47±42.42 g/m2 to 141.58±34.36 g/m2(P<0.01).No adverse events leading to premature discontinuation of study drug occurred.Conclusion In this preliminary study,12-month arotinolol treatment has a favorable effect on left ventricular function in patients with IDCM,and it is safe and well tolerated.展开更多
BACKGROUND Endocardial fibroelastosis(EFE)is a diffuse endocardial collagen and elastin hyperplasia disease of unknown etiology,which may be accompanied by myocardial degenerative changes leading to acute or chronic h...BACKGROUND Endocardial fibroelastosis(EFE)is a diffuse endocardial collagen and elastin hyperplasia disease of unknown etiology,which may be accompanied by myocardial degenerative changes leading to acute or chronic heart failure.However,acute heart failure(AHF)without obvious associated triggers is rare.Prior to the report of endomyocardial biopsy,the diagnosis and treatment of EFE are highly susceptible to being confounded with other primary cardiomyopathies.Here,we report a case of pediatric AHF caused by EFE mimicking dilated cardiomyopathy(DCM),with the aim of providing a valuable reference for clinicians to early identify and diagnose EFE-induced AHF.CASE SUMMARY A 13-mo-old female child was admitted to hospital with retching.Chest X-ray demonstrated enhanced texture in both lungs and an enlarged heart shadow.Color doppler echocardiography showed an enlarged left heart with ventricular wall hypokinesis and decreased left heart function.Abdominal color ultrasonography revealed a markedly enlarged liver.Pending the result of the endomyocardial biopsy report,the child was treated with a variety of resuscitative measures including nasal cannula for oxygen,intramuscular sedation with chlorpromazine and promethazine,cedilanid for cardiac contractility enhancement,and diuretic treatment with furosemide.Subsequently,the child’s endomyocardial biopsy report result was confirmed as EFE.After the above early interventions,the child’s condition gradually stabilized and improved.One week later,the child was discharged.During a 9-mo follow-up period,the child took intermittent low-dose oral digoxin with no signs of recurrence or exacerbation of the heart failure.CONCLUSION Our report suggests that EFE-induced pediatric AHF may present in children over 1 year of age without any apparent precipitants,and that the associated clinical presentations are grossly similar to that of pediatric DCM.Nonetheless,it is still possible to be diagnosed effectively on the basis of the comprehensive analysis of auxiliary inspection findings before the result of the endomyocardial biopsy is reported.展开更多
Dilated cardiomyopathy（DCM）is characterized by the dilated heart chambers and reduced systolic function in the absence of specific aetiology[1].Approximately one third of DCM cases are hereditary.In recent years,DCM...Dilated cardiomyopathy（DCM）is characterized by the dilated heart chambers and reduced systolic function in the absence of specific aetiology[1].Approximately one third of DCM cases are hereditary.In recent years,DCM concomitant with arrhythmias and sudden death resulting from gene mutation has been widely展开更多
BACKGROUND The prognostic value of late gadolinium enhancement(LGE)derived from cardiovascular magnetic resonance(CMR)is well studied,and several new metrics of LGE have emerged.However,some controversies remain;there...BACKGROUND The prognostic value of late gadolinium enhancement(LGE)derived from cardiovascular magnetic resonance(CMR)is well studied,and several new metrics of LGE have emerged.However,some controversies remain;therefore,further discussion is needed,and more precise risk stratification should be explored.AIM To investigate the associations between the positivity,extent,location,and pattern of LGE and multiple outcomes in dilated cardiomyopathy(DCM).METHODS PubMed,Ovid MEDLINE,and Cochrane Library were searched for studies that investigated the prognostic value of LGE in patients with DCM.Pooled hazard ratios(HRs)and 95%confidence intervals were calculated to assess the role of LGE in the risk stratification of DCM.RESULTS Nineteen studies involving 7330 patients with DCM were included in this metaanalysis and covered a wide spectrum of DCM,with a mean left ventricular ejection fraction between 21%and 50%.The meta-analysis revealed that the presence of LGE was associated with an increased risk of multiple adverse outcomes(all-cause mortality,HR:2.14;arrhythmic events,HR:5.12;and composite endpoints,HR:2.38;all P<0.001).Furthermore,every 1%increment in the extent of LGE was associated with an increased risk of all-cause mortality.Analysis of a subgroup revealed that the prognostic value varied based on different location and pattern of LGE.Additionally,we found that LGE was a stronger predictor of arrhythmic events in patients with greater left ventricular ejection fraction.CONCLUSION LGE by CMR in patients with DCM exhibited a substantial value in predicting adverse outcomes,and the extent,location,and pattern of LGE could provide additional information for risk stratification.展开更多
Background Endomyocardial biopsy （EMB） is an important tool when patients with inflammatoric cardiomyopathy （DCMi） are evaluated. We aimed to assess the clinical profile of elderly patients with DCMi on EMB. Metho...Background Endomyocardial biopsy （EMB） is an important tool when patients with inflammatoric cardiomyopathy （DCMi） are evaluated. We aimed to assess the clinical profile of elderly patients with DCMi on EMB. Methods Retrospective study of all consecutive patients hospitalized from January 2007 to December 2011 with clinical suspicion of DCMi undergoing EMB. Patients with evidence of DCMi on EMB （Group 1 〉 70 years, n = 85; Group 3 〈 70 years; n = 418） were compared to patients of the same age group without evi- dence of DCMi on EMB （Group 2 〉 70 years, n = 45; Group 4 〈 70 years; n = 147）. Results Among 24,275 patients treated at our institu- tion during the study period, 695 had clinical suspicion of DCMi and underwent EMB; 503 （2.1%） patients had DCMi on EMB. There were more male patients in Group 1, mean age was 74 ~ 2.8 years, mean ejection fraction was 38% q- 14%. On presentation, signs of hemody- namic compromise （NYHA functional class IIUIV, low cardiac output/index, and low cardiac power index） were more frequent in Group 1. EMB revealed viral genome in 78% of the patients, parvovirus B 19 （PVB） was frequently encountered in both age groups （Group 1： 69.4% vs. Group 2： 59.6%）; detection of more than one viral genome was more frequent in Group 1 （21.2% vs. 11.2%; P = 0.02） whereas the extent of immune response was significantly lower in individuals with advanced age. Conclusions In patients 〉 70 years with DCMi on EMB signs of hemodynamic compromise, detection of multiple viral genomes together with an overall lower extent of immune response were more frequently observed.展开更多
To probe into the genetic background and immunopathogenesis of dilated cardiomyopathy (DCM), HLA-DRB1 gene polymorphism in 68 patients with DCM and 175 normal control subjects were analyzed by using the polymerase cha...To probe into the genetic background and immunopathogenesis of dilated cardiomyopathy (DCM), HLA-DRB1 gene polymorphism in 68 patients with DCM and 175 normal control subjects were analyzed by using the polymerase chain reaction/sequence specific primer (PCR/SSP) techniques. It was found that the frequencies of HLA-DRB1 15 and HLA-DRB1 03 alleles were significantly lower in DCM patients than those in normal controls (14. 71 % vs 29. 71 % and 4. 41 % vs 15. 43 %, respectively), the relative risks (RR) in the DCM patients being 0. 41 and 0. 25, respectively, all P<0. 05. However, the frequencied of HLA-DRB1 11 and HLA-DRB1. 12 alleles were significantly higher in the DCM patients than in controls (29. 4 % vs 12. 00 % and 36. 76 % vs 12. 57 %, respectively) with the RR in the DCM patients being 3. 06 and 4. 04, respectively, all P<0. 01. These findings further demonstrated that-immunogenetics might play a predominant pathogenetic role in partial DCM patients.展开更多
BACKGROUND The clinical course of acute myocarditis ranges from the occurrence of a few symptoms to the development of fatal fulminant myocarditis.Specifically,fulminant myocarditis causes clinical deterioration very ...BACKGROUND The clinical course of acute myocarditis ranges from the occurrence of a few symptoms to the development of fatal fulminant myocarditis.Specifically,fulminant myocarditis causes clinical deterioration very rapidly and aggressively.The long-term prognosis of myocarditis is varied,and it fully recovers without leaving any special complications.However,even after recovery,heart failure may occur and eventually progress to dilated cardiomyopathy(DCM),which causes serious left ventricular dysfunction.In the case of follow-up observation,no clear guidelines have been established.CASE SUMMARY We report the case of a 21-year-old woman who presented with dyspnea.She became hemodynamically unstable and showed sustained fatal arrhythmias with decreased heart function.She was clinically diagnosed with fulminant myocarditis based on her echocardiogram and cardiac magnetic resonance results.After 2 d,she was readmitted to the emergency department under cardiopulmonary resuscitation and received mechanical ventilation and extracorporeal membrane oxygenation.An implantable cardioverter defibrillator was inserted for secondary prevention.She recovered and was discharged.Prior to being hospitalized for sudden cardiac function decline and arrhythmia,she had been well for 7 years without any complications.She was finally diagnosed with dilated cardiomyopathy.CONCLUSION DCM may develop unexpectedly in patients who have been cured of acute fulminant myocarditis and have been stable with a long period of remission.Therefore,they should be carefully and regularly observed clinically throughout long-term follow-up.展开更多
BACKGROUND Dilated cardiomyopathy(DCM)is a genetically heterogeneous cardiac disorder characterized by left ventricular dilation and contractile dysfunction.The substantial genetic heterogeneity evident in patients wi...BACKGROUND Dilated cardiomyopathy(DCM)is a genetically heterogeneous cardiac disorder characterized by left ventricular dilation and contractile dysfunction.The substantial genetic heterogeneity evident in patients with DCM contributes to variable disease severity and complicates overall prognosis,which can be very poor.AIM To identify pathogenic genes in DCM through pedigree analysis.METHODS Our research team identified a patient with DCM in the clinic.Through invest-igation,we found that the family of this patient has a typical DCM pedigree.High-throughput sequencing technology,next-generation sequencing,was used to sequence the whole exomes of seven samples in the pedigree.RESULTS A novel and potentially pathogenic gene mutation-ANK2p.F3067L-was discovered.The mutation was completely consistent with the clinical information for this DCM pedigree.Sanger sequencing was used to further verify the locus of the mutation in pedigree samples.These results were consistent with those of high-throughput sequencing.CONCLUSIONS ANK2p.F3067L is considered a novel and potentially pathogenic gene mutation in DCM.展开更多
基金Supported by Sichuan Province Science and Technology Program,No.2024YFHZ0214 and No.2023YFS0299Chengdu Science and Technology Program,No.2024-YF05-01820-SN.
文摘BACKGROUND Dilated cardiomyopathy(DCM)is a common cause of systolic heart failure,and is the most prevalent type of non-ischemic cardiomyopathy.Primary hyperparathyroidism(PHPT)is characterized by hypercalcemia and excessive secretion of parathyroid hormone(PTH).Generally,PHPT is asymptomatic and is incidentally identified during routine laboratory assessments.CASE SUMMARY This case report details a 52-year-old man diagnosed with DCM and refractory hypercalcemia,who presented with clinical manifestations including dyspnea,recurrent anorexia,and abdominal distention.Laboratory investigations indicated an elevated serum PTH level,and the sestamibi scan suggested the presence of a parathyroid adenoma.Hence,the patient underwent a parathyroidectomy,which pathologically confirmed the diagnosis of a parathyroid adenoma.Postoperatively,the patient's hypercalcemia was corrected,the dimensions of the cardiac chambers were reduced,and there was a marked improvement in cardiac function.CONCLUSION Our findings emphasize the importance of PTH assessment in patients with DCM and concurrent hypercalcemia.
基金supported by the Key Project of the National Twelfth Five-Year Research Program of China(No.2011BAI11B00,No.2011BAI11B23).
文摘Objective:Qiliqiangxin(QLQX)capsule,a traditional Chinese medicine used for treating heart failure(HF),can modulate inflammatory cytokines in rats with myocardial infarction.However,its immune-regulating effect on dilated cardiomyopathy(DCM)remains unknown.The aim of this study was to investigate whether QLQX has a unique regulatory role in the imbalance of pro-and anti-inflammatory cytokines in patients with DCM.Methods:The QLQX-DCM is a randomized,double-blind trial conducted at 24 tertiary hospitals in China.A total of 345 patients with newly diagnosed virus-induced DCM were randomly assigned to receive QLQX capsules or placebo while receiving optimal medical therapy for HF.The primary endpoints were changes in plasma inflammatory cytokines and improvements in left ventricular ejection fraction(LVEF)and left ventricular end-diastolic diameter(LVEDd)over the 12-month treatment.Results:At the 12-month follow-up,the levels of IFN-γ,IL-17,TNF-ɑ,and IL-4 decreased significantly,while the level of IL-10 increased in both groups compared with baselines(all P<0.0001).Furthermore,these changes,coupled with improvements in LVEF,NT-proBNP and New York Heart Association(NYHA)functional classification,excluding the LVEDd in the QLQX group,were greater than those in the placebo group(all P<0.001).Additionally,compared with placebo,QLQX treatment also reduced all-cause mortality and rehospitalization rates by 2.17%and 2.28%,respectively,but the difference was not statistically significant.Conclusion:QLQX has the potential to alleviate the imbalance of inflammatory cytokines in patients with DCM,potentially leading to further improvements in cardiac function when combined with anti-HF standard medications.
文摘BACKGROUND Polyneuropathy,organomegaly,endocrinopathy,M-protein,skin changes(POEMS)syndrome is a rare paraneoplastic syndrome that encompass multiple systems.The most common clinical symptoms of POEMS syndrome are pro-gressive sensorimotor polyneuropathy,organ enlargement,endocrine disorders,darkening skin,a monoclonal plasma cell proliferative disorder,and lymph node hyperplasia.The organomegaly consists of hepatosplenomegaly and/or lym-phadenopathy;cases of cardiomyopathy are rare.Diagnoses are often delayed because of the atypical nature of the syndrome,exposing patients to possibly severe disability.Therefore,identifying atypical symptoms can improve the prognosis and quality of life among POEMS syndrome patients.lenalidomide and dexamethasone.CONCLUSION When patients with cardiomyopathy have systemic manifestations such as numb limbs and darkening skin,the POEMS syndrome is the most possible diagnosis.
基金funded by BIRD201443-2020by a Grant from“Associazione Un Cuore Un Mondo Padova-ONLUS”.
文摘Background:Since 2015,the pulmonary artery banding(PAB),following the Giessen protocol,has treated endstage heart failure in selected infants with preserved right ventricular function,acting as a bridge to transplant or recovery,as a result of ventricular-ventricular interaction.Objectives:To elucidate whether PAB is a feasible and reproducible procedure in a rodent model of pharmacologically induced dilated cardiomyopathy(DCM)and to evaluate PAB-induced ventricular rehabilitation.Methods:We used 49 Sprague-Dawley rats divided into four groups:a sham surgery control group,a healthy animal group undergoing PAB,a doxorubicin(DOX)-treated control group,and a DOX+PAB-treated group.All underwent echocardiographic,histological,and molecular analyses.Results:Preliminary results showed high mortality in rats with DOX-induced DCM,with contractile dysfunction confirmed by 2D echocardiography.Signs of damage were detected through transmission electron microscopy,but not via standard histological/molecular tests.PAB after DOX improved contractile function,enhancing ejection fraction(p=0.01)and fractional shortening(p=0.03).Conclusion:The DOX-induced DCM model,while reproducible,may not reflect DCM’s true pathology.High mortality and individual variability limited the study.Further research is needed to find alternative models with lower mortality and to explore the PAB-induced molecular signaling pathways and cardiac proliferation potential.
文摘Objective: To screen and analyze the differentially expressed genes between dilated cardiomyopathy (DCM) and chronic heart failure (CHF) based on bioinformatics methods. Methods: The Gene Expression Omnibus (GEO) database was used for data retrieval, and the chip data GSE3585 was downloaded, which was the original data of DCM and normal control group. At the same time, the chip data GSE76701 was downloaded, which was the original data of CHF and control group. Differentially expressed mRNAs (DEmRNAs) were screened by R language limma package, the data were standardized, and the common differentially expressed genes were screened. GO function and KEGG pathway enrichment analysis were performed on the common differentially expressed genes. String11.0 online tool was used for data analysis to obtain differentially expressed genes, and the results were imported into Cytoscape 3.9.1 software. The results were imported into Cytoscape 3.9.1 software, and the common expression gene module was obtained by MOCDE algorithm. Nine Hub genes were obtained by 10 algorithms such as MCC. Results: A total of 248 differentially expressed genes were screened. GO analysis showed that differentially expressed genes were mainly concentrated in 9 different physiological and pathological processes. KEGG analysis showed that the main signaling pathways involved in differentially expressed genes were 2, and 9 key differentially expressed genes were predicted: NPPB, NPPA, MYH6, FRZB, ASPN, SFRP4, RPS4Y1, DDX3Y. Conclusion: This study preliminarily explored the molecular mechanism of DCM and CHF, and obtained the common differentially expressed genes of the two diseases. Further experimental studies are needed to verify the correlation between gene expression and clinicopathological features. Provide new ideas for clinical drug treatment research.
文摘Dilated cardiomyopathy(DCM),a severe heart disease,is the leading cause of heart failure and sudden cardiac death worldwide.DCM is defined by a dilated and deficient systolic left ventricle(LV),and is a major risk factor for morbidity and mortality worldwide.DCM progression can be ascribed to genetic and non-genetic factors,including hypertension,infectious agents,toxins,and drugs.Sarcomere genes play crucial roles in myocardial cells’physical structure and physiological function.
文摘Dilated cardiomyopathy(DCM)is a common myocardial disease characterized by enlargement of the heart cavity and decreased systolic function,often leading to heart failure(HF)and arrhythmia.The occurrence of atrial fibrillation(AF)is closely related to the progression and prognosis of the disease.In recent years,with the advancement of medical imaging and biomarkers,models for predicting the occurrence of AF in DCM patients have gradually become a research hotspot.This article aims to review the current situation of AF in DCM patients and explore the importance and possible methods of constructing predictive models to provide reference for clinical prevention and treatment.We comprehensively analyzed the risk factors for AF in DCM patients from epidemiological data,pathophysiological mechanisms,clinical and laboratory indicators,electrocardiogram and imaging parameters,and biomarkers,and evaluated the effectiveness of existing predictive models.Through analysis of existing literature and research,this article proposes a predictive model that integrates multiple parameters to improve the accuracy of predicting AF in DCM patients and provide a scientific basis for personalized treatment.
文摘Antibodies against &-adrenoceptor can be detected in serum of patients with dilated cardiomyopathy (DCM), which have 5-agonist-like activity, and induce a positive chronotropic effect on cardiac myocytes by its persistence at full strength. Effects of the antibodies against Padrenoceptor from sera of patients with DCM on myocardial cytotoxicity and cytoplasmic free Ca2+-concentration (LCa2+ji) were observed in the cultured single layer SD rat ventricular cells by using the cytotoxicity assay and fluorescent Ca2+- indicat0r fura-2/AM. The positive sera of the anti-&adrenoceptor antibodies from patients with DCM markedly enhanced myocardial [Ca2+]i. Betaloc, a 5, -receptor blocker, might inhibit the increase of the antibody-mediated myocardial [Ca2+]i, and the sera from healthy donors had no effect on myocardial [Ca2+]i,. Our results suggest that the anti-β-adrenoceptor antibody might increase myocardial [Ca2+]i, and result in myocardial damage. The antibodies might activate receptor-gating Ca2+-channel, thereby causing myocardial [Ca2+]i, rise and calcium overload. Early use of betaloc is recommended in the treatment of dilated cardiomyopathy.
基金the National Natural Science Foundation of China(Nos.81701653 and 81570348).
文摘Myocardial fiber deformation measurements have been reported to be associated with adverse outcomes in patients with acute heart failure and those with myocardial infarction.However,few studies have addressed the prognostic value of global circumferential strain(GCS)in dilated cardiomyopathy(DCM)patients with severely impaired systolic function.This study aimed to evaluate the prognostic value of cardiac magnetic resonance(CMR)-derived GCS in DCM patients with severely reduced ejection.Consecutive DCM patients with severely reduced ejection fraction(EF<35%)who underwent CMR were included.GCS was calculated from CMR cine images.The clinical endpoint was a composite of all-cause mortality,heart transplantation,implantable cardioverter defibrillator(ICD)implantation and aborted sudden cardiac death(SCD).A total of 129 patients with a mean EF of 15.33%(11.36%–22.27%)were included.During a median follow-up of 518 days,endpoint events occurred in 50 patients.Patients with GCS≥the median(−5.17%)had significantly reduced event-free survival as compared with those with GCS<the median(P<0.01).GCS was independently associated with adverse events after adjusting for clinical and imaging risk factors including extent of late gadolinium enhancement(LGE)(P<0.05).Adding GCS into the model including the extent of LGE resulted in significant improvements in the C-statistic(from 0.706 to 0.742;P<0.05)with a continuous net reclassification improvement(NRI)of 29.71%.It was concluded that GCS derived from CMR could be useful for risk stratification in DCM patients with severely reduced EF,which may increase common imaging risk factors including LGE.
基金supported by the Medical Technology Major Projects on Hospital Management Center in Wuxi City,Jiangsu Province(No.YGZX1102),China
文摘To compare the continuous infusion and intermittent bolus injection administration protocols of doxorubicin（Dox） under the same cumulative dose（12 mg/kg）, and establish a rat dilated cardiomyopathy model with improved survival, a total of 150 Sprague-Dawley（SD） rats were divided into three groups： a control group, administered with normal saline; a Dox 1 group, administration twice a week at 1 mg/kg; a Dox 2, administration once a week at 2 mg/kg. Mortality rates in the Dox 1 and Dox 2 groups were 22% and 48%, respectively（P〈0.05）. As shown by echocardiography, both Dox groups exhibited significant chamber dilatation and reduced cardiac function（all P〈0.05 vs. control）. Plasma brain natriuretic peptide and C-reactive protein concentrations were significantly increased（P〈0.05） with both Dox regimens. The concentrations of Caspase-3 in myocardial tissues of rats significantly increased in both doxorubicin regimens. Myocardial metabolism imaging by histology and ^18F-fluoro-deoxyglucose-positron emission tomography（^18FDG-PET） both revealed decreased myocardial viability and necrosis, and even interstitial fibrosis, in left ventricles（LVs） in both Dox groups. Serum creatinine and aspartate aminotransferase concentrations were significantly higher in the Dox 2 model than in the Dox 1 model. Doxorubicin given at both regimens induced dilated cardiomyopathy, while its administration at lower doses with more frequent infusions reduced the mortality rate.
基金the Key Projects of Zhejiang Medical and Health Science and Technology Plan(Provincial and Ministerial Co-construction)(No.WKJ-ZJ-1819)the Fundamental Research Funds for the Zhejiang Province Universities(No.2019XZZX003-15)the National Natural Science Foundation of China(No.81470370)
文摘Objective:Mutations in LIM domain binding 3(LDB3)gene cause idiopathic dilated cardiomyopathy(IDCM),a structural heart disease with a complicated genetic background.However,the association of polymorphisms in the LDB3 gene with susceptibility to IDCM in Chinese populations remains unexplored as dose the impact on clinical presentation.Methods:We sequenced all exons and the adjacent part of introns of the LDB3 gene in 159 Chinese Han IDCM patients and 247 healthy controls.Then we detected the distribution of polymorphisms in the LDB3 gene in all participants and assessed their associations with risk of IDCM.Additionally,we conducted a stratified genotype–phenotype correlation analysis.Results:The A allele of rs4468255 was significantly associated with IDCM(P<0.01).The rs4468255,rs11812601,rs56165849,and rs3740346 were also associated with diastolic blood pressure(DBP)and left ventricular ejection fraction(LVEF)(P<0.05).Notably,a higher frequency of rs4468255 polymorphism was observed in implantable cardioverter defibrillator(ICD)recipients under a recessive model(P<0.01),whereas the significant association disappeared after adjusting for potential confounders.However,in the dominant model,notable correlations could only be observed after adjusting for multi parameters.Conclusions:The rs4468255 was significantly correlated with IDCM of Chinese Han population.A allele of rs4468255 is higher in IDCM patients with ICD implantation,suggesting the influence of genetic background in the generation of this response.In addition,rs11812601,rs56165849,and rs3740346 in LDB3 show association with brain natriuretic peptide,DBP,and LVEF levels in patients with IDCM but did not show any association with IDCM susceptibility.
基金the Sichuan Province Science and Technology Support Program of China。
文摘BACKGROUND Nemaline myopathy(NM)is a rare type of congenital myopathy,with an incidence of 1:50000.Patients with NM often exhibit hypomyotonia and varying degrees of muscle weakness.Skeletal muscles are always affected by this disease,while myocardial involvement is uncommon.However,with improvements in genetic testing technology,it has been found that NM with a mutation in the myopalladin(MYPN)gene not only causes slow,progressive muscle weakness but also results in dilated or hypertrophic cardiomyopathy.CASE SUMMARY A 3-year-old pre-school boy was admitted to our hospital with cough,edema,tachypnea,and an increased heart rate.The patient was clinically diagnosed with severe dilated cardiomyopathy and heart failure,and subsequent gene examination confirmed the diagnosis of NM with a mutation in MYPN.Captopril,diuretics,low-dose digoxin,and dobutamine were administered.After 22 d of hospitalization,the patient was discharged due to the improvement of clinical symptoms.During the follow-up period,the patient died of refractory heart failure.CONCLUSION Decreased muscular tone and dilated cardiomyopathy are common features of MYPN-mutated NM.Heart transplantation may be a solution to this type of cardiomyopathy.
文摘Objective To evaluate the efficacy and safety of long-term treatment with arotinolol in patients with idiopathic dilated cardiomyopathy(IDCM).Methods Sixty-three patients with IDCM were evaluated at baseline and after 12-month therapy with arotinolol.The conventional therapy for congestive heart failure was continued throughout the study with arotinolol as the only β-blocker.Left ventricular function was assessed with the New York Heart Association functional class and two-dimensional echocardiography.Results After 12-month arotinolol treatment,there was a significant improvement in left ventricular systolic function.Left ventricular end-systolic dimension significantly decreased from 59.52±8.83 mm to 50.89±8.17 mm(P<0.001).Left ventricular ejection fraction significantly increased from 27.39%±7.94% to 41.13%±9.45%(P<0.001).Left ventricular mass index decreased from 150.47±42.42 g/m2 to 141.58±34.36 g/m2(P<0.01).No adverse events leading to premature discontinuation of study drug occurred.Conclusion In this preliminary study,12-month arotinolol treatment has a favorable effect on left ventricular function in patients with IDCM,and it is safe and well tolerated.
文摘BACKGROUND Endocardial fibroelastosis(EFE)is a diffuse endocardial collagen and elastin hyperplasia disease of unknown etiology,which may be accompanied by myocardial degenerative changes leading to acute or chronic heart failure.However,acute heart failure(AHF)without obvious associated triggers is rare.Prior to the report of endomyocardial biopsy,the diagnosis and treatment of EFE are highly susceptible to being confounded with other primary cardiomyopathies.Here,we report a case of pediatric AHF caused by EFE mimicking dilated cardiomyopathy(DCM),with the aim of providing a valuable reference for clinicians to early identify and diagnose EFE-induced AHF.CASE SUMMARY A 13-mo-old female child was admitted to hospital with retching.Chest X-ray demonstrated enhanced texture in both lungs and an enlarged heart shadow.Color doppler echocardiography showed an enlarged left heart with ventricular wall hypokinesis and decreased left heart function.Abdominal color ultrasonography revealed a markedly enlarged liver.Pending the result of the endomyocardial biopsy report,the child was treated with a variety of resuscitative measures including nasal cannula for oxygen,intramuscular sedation with chlorpromazine and promethazine,cedilanid for cardiac contractility enhancement,and diuretic treatment with furosemide.Subsequently,the child’s endomyocardial biopsy report result was confirmed as EFE.After the above early interventions,the child’s condition gradually stabilized and improved.One week later,the child was discharged.During a 9-mo follow-up period,the child took intermittent low-dose oral digoxin with no signs of recurrence or exacerbation of the heart failure.CONCLUSION Our report suggests that EFE-induced pediatric AHF may present in children over 1 year of age without any apparent precipitants,and that the associated clinical presentations are grossly similar to that of pediatric DCM.Nonetheless,it is still possible to be diagnosed effectively on the basis of the comprehensive analysis of auxiliary inspection findings before the result of the endomyocardial biopsy is reported.
基金the funds of "the Youth Fund of Nantong Health Bureau 2015",ID:WQ2015009
文摘Dilated cardiomyopathy（DCM）is characterized by the dilated heart chambers and reduced systolic function in the absence of specific aetiology[1].Approximately one third of DCM cases are hereditary.In recent years,DCM concomitant with arrhythmias and sudden death resulting from gene mutation has been widely
基金the Research Grant of the National Natural Science Foundation of China,No.81801674Sichuan Province Science and Technology Support Program,No.2021YJ0242.
文摘BACKGROUND The prognostic value of late gadolinium enhancement(LGE)derived from cardiovascular magnetic resonance(CMR)is well studied,and several new metrics of LGE have emerged.However,some controversies remain;therefore,further discussion is needed,and more precise risk stratification should be explored.AIM To investigate the associations between the positivity,extent,location,and pattern of LGE and multiple outcomes in dilated cardiomyopathy(DCM).METHODS PubMed,Ovid MEDLINE,and Cochrane Library were searched for studies that investigated the prognostic value of LGE in patients with DCM.Pooled hazard ratios(HRs)and 95%confidence intervals were calculated to assess the role of LGE in the risk stratification of DCM.RESULTS Nineteen studies involving 7330 patients with DCM were included in this metaanalysis and covered a wide spectrum of DCM,with a mean left ventricular ejection fraction between 21%and 50%.The meta-analysis revealed that the presence of LGE was associated with an increased risk of multiple adverse outcomes(all-cause mortality,HR:2.14;arrhythmic events,HR:5.12;and composite endpoints,HR:2.38;all P<0.001).Furthermore,every 1%increment in the extent of LGE was associated with an increased risk of all-cause mortality.Analysis of a subgroup revealed that the prognostic value varied based on different location and pattern of LGE.Additionally,we found that LGE was a stronger predictor of arrhythmic events in patients with greater left ventricular ejection fraction.CONCLUSION LGE by CMR in patients with DCM exhibited a substantial value in predicting adverse outcomes,and the extent,location,and pattern of LGE could provide additional information for risk stratification.
文摘Background Endomyocardial biopsy （EMB） is an important tool when patients with inflammatoric cardiomyopathy （DCMi） are evaluated. We aimed to assess the clinical profile of elderly patients with DCMi on EMB. Methods Retrospective study of all consecutive patients hospitalized from January 2007 to December 2011 with clinical suspicion of DCMi undergoing EMB. Patients with evidence of DCMi on EMB （Group 1 〉 70 years, n = 85; Group 3 〈 70 years; n = 418） were compared to patients of the same age group without evi- dence of DCMi on EMB （Group 2 〉 70 years, n = 45; Group 4 〈 70 years; n = 147）. Results Among 24,275 patients treated at our institu- tion during the study period, 695 had clinical suspicion of DCMi and underwent EMB; 503 （2.1%） patients had DCMi on EMB. There were more male patients in Group 1, mean age was 74 ~ 2.8 years, mean ejection fraction was 38% q- 14%. On presentation, signs of hemody- namic compromise （NYHA functional class IIUIV, low cardiac output/index, and low cardiac power index） were more frequent in Group 1. EMB revealed viral genome in 78% of the patients, parvovirus B 19 （PVB） was frequently encountered in both age groups （Group 1： 69.4% vs. Group 2： 59.6%）; detection of more than one viral genome was more frequent in Group 1 （21.2% vs. 11.2%; P = 0.02） whereas the extent of immune response was significantly lower in individuals with advanced age. Conclusions In patients 〉 70 years with DCMi on EMB signs of hemodynamic compromise, detection of multiple viral genomes together with an overall lower extent of immune response were more frequently observed.
基金a grant from the ChineseMinistry of Public Health (No. 96-2-105).
文摘To probe into the genetic background and immunopathogenesis of dilated cardiomyopathy (DCM), HLA-DRB1 gene polymorphism in 68 patients with DCM and 175 normal control subjects were analyzed by using the polymerase chain reaction/sequence specific primer (PCR/SSP) techniques. It was found that the frequencies of HLA-DRB1 15 and HLA-DRB1 03 alleles were significantly lower in DCM patients than those in normal controls (14. 71 % vs 29. 71 % and 4. 41 % vs 15. 43 %, respectively), the relative risks (RR) in the DCM patients being 0. 41 and 0. 25, respectively, all P<0. 05. However, the frequencied of HLA-DRB1 11 and HLA-DRB1. 12 alleles were significantly higher in the DCM patients than in controls (29. 4 % vs 12. 00 % and 36. 76 % vs 12. 57 %, respectively) with the RR in the DCM patients being 3. 06 and 4. 04, respectively, all P<0. 01. These findings further demonstrated that-immunogenetics might play a predominant pathogenetic role in partial DCM patients.
文摘BACKGROUND The clinical course of acute myocarditis ranges from the occurrence of a few symptoms to the development of fatal fulminant myocarditis.Specifically,fulminant myocarditis causes clinical deterioration very rapidly and aggressively.The long-term prognosis of myocarditis is varied,and it fully recovers without leaving any special complications.However,even after recovery,heart failure may occur and eventually progress to dilated cardiomyopathy(DCM),which causes serious left ventricular dysfunction.In the case of follow-up observation,no clear guidelines have been established.CASE SUMMARY We report the case of a 21-year-old woman who presented with dyspnea.She became hemodynamically unstable and showed sustained fatal arrhythmias with decreased heart function.She was clinically diagnosed with fulminant myocarditis based on her echocardiogram and cardiac magnetic resonance results.After 2 d,she was readmitted to the emergency department under cardiopulmonary resuscitation and received mechanical ventilation and extracorporeal membrane oxygenation.An implantable cardioverter defibrillator was inserted for secondary prevention.She recovered and was discharged.Prior to being hospitalized for sudden cardiac function decline and arrhythmia,she had been well for 7 years without any complications.She was finally diagnosed with dilated cardiomyopathy.CONCLUSION DCM may develop unexpectedly in patients who have been cured of acute fulminant myocarditis and have been stable with a long period of remission.Therefore,they should be carefully and regularly observed clinically throughout long-term follow-up.
基金Supported by the Jilin Provincial Healthcare Talent Special Program,No.2019SCZT08.
文摘BACKGROUND Dilated cardiomyopathy(DCM)is a genetically heterogeneous cardiac disorder characterized by left ventricular dilation and contractile dysfunction.The substantial genetic heterogeneity evident in patients with DCM contributes to variable disease severity and complicates overall prognosis,which can be very poor.AIM To identify pathogenic genes in DCM through pedigree analysis.METHODS Our research team identified a patient with DCM in the clinic.Through invest-igation,we found that the family of this patient has a typical DCM pedigree.High-throughput sequencing technology,next-generation sequencing,was used to sequence the whole exomes of seven samples in the pedigree.RESULTS A novel and potentially pathogenic gene mutation-ANK2p.F3067L-was discovered.The mutation was completely consistent with the clinical information for this DCM pedigree.Sanger sequencing was used to further verify the locus of the mutation in pedigree samples.These results were consistent with those of high-throughput sequencing.CONCLUSIONS ANK2p.F3067L is considered a novel and potentially pathogenic gene mutation in DCM.
