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
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
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
Background Previous studies had demonstrated hemostatic abnormalities in patients with heart failure (HF) and several studies have shown that abnormal coagulation indices, represented by elevated D-dimer, had prognost...Background Previous studies had demonstrated hemostatic abnormalities in patients with heart failure (HF) and several studies have shown that abnormal coagulation indices, represented by elevated D-dimer, had prognostic significance in patients with compatible or acute decompensated HF. However, the impact of D-dimer on the outcome in patients with end-stage HF remains unclear. Methods A total of 244 consecutive patients with end-stage HF due to idiopathic dilated cardiomyopathy (DCM) were prospectively enrolled from February 2011 to September 2014. D-dimer levels were measured and its prognostic value was assessed. Primary endpoint was all-cause mortality during the follow-up period. Secondary endpoints were stroke, bleeding, occurrence of sustained ventricular tachycardia or ventricular fibrillation, and major adverse cardiovascular events (MACE). Results D-dimer was significantly elevated in the non-survivors (median: 0.8 vs. 1.1 mg/L, P < 0.001). Traditional markers including B-type natriuretic peptide, troponin I, left ventricular ejection fraction, and left ventricular end-diastolic dimension provided limited prognostic value;but the addition of D-dimer refined the risk stratification. The optimal cut-off value of D-dimer to predict all-cause mortality was 0.84 mg/L by receiver operator characteristic analysis. Elevated D-dimer level was independently associated with increased risk of long-term all-cause mortality (HR = 2.315, 95% CI: 1.570–3.414, P < 0.001) and MACE (HR = 1.256, 95% CI: 1.058–1.490, P = 0.009), and the predictive value was independent of age, sex, atrial fibrillation and anticoagulation status. Conclusions Elevated D-dimer level was independently associated with poor long-term outcome in patients with end-stage HF secondary to idiopathic DCM, and the predictive value was superior to that of traditional prognostic markers.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
Background:To evaluate the clinical efficacy of oral administration of Chinese medicines with warming Yang effects and Western medicine in the treatment of heart failure caused by dilated cardiomyopathy.Methods:Seven ...Background:To evaluate the clinical efficacy of oral administration of Chinese medicines with warming Yang effects and Western medicine in the treatment of heart failure caused by dilated cardiomyopathy.Methods:Seven databases including Chinese National Knowledge Infrastructure,Weipu database,Wanfang database,China Biomedical Literature Service System,Cochrane library,PubMed,and Embase were searched.The search date was from established to October 2019.Randomized clinical trials of dilated cardiomyopathy patients with heart failure under the combination treatment of Chinese medicines with warming Yang effects and Western medicine were included.We then assessed the methodological quality of included literatures,extracted valid data and conducted systematically evaluation according to the Cochrane systematic review method.Outcome index included clinical efficacy,left ventricular ejection fraction,and brain natriuretic peptide.Results:Meta-analysis results showed that the clinical effective rate was higher in the combination group than that in the control group(RR=1.24,95%CI(1.14,1.34),P<0.01).In addition,the combination group could improve left ventricular ejection fraction compared with the control group(Std.MD=0.85,95%CI(0.69,1.01),P<0.01).However,the meta-analysis of brain natriuretic peptide levels showed that the included literatures have higher heterogeneity and the meta-analysis results were unstable.So the results of brain natriuretic peptide were abandoned.Conclusion:Oral administration of Chinese medicines with warming Yang effects combined with Western medicine is better than Western medicine alone in improving clinical effect and left ventricular ejection fraction,but it is not clear whether brain natriuretic peptide can be improved.Because the quality of the included studies is not high and inconsistent outcome index,more standardized and rigorous randomized double-blind controlled trials are needed to validate and guide clinical use.展开更多
BACKGROUND Familial dilated cardiomyopathy(FDCM) account for 20%-30% of non-ischemic cardiomyopathies(NICM). Previous published data showed that some patients with FDCM tend to have rapidly progressive disease; howeve...BACKGROUND Familial dilated cardiomyopathy(FDCM) account for 20%-30% of non-ischemic cardiomyopathies(NICM). Previous published data showed that some patients with FDCM tend to have rapidly progressive disease; however, five-year mortality was not significantly different in the familial and non-familial forms of NICM with optimal medical therapy.AIM To better define the characteristics and clinical outcomes of FDCM patients listed for heart transplantation(HT).METHODS We queried the United Network for Organ Sharing Registry to identify FDCM patients listed for HT between January 2008 and September 2015 and compared them to NICM and ischemic cardiomyopathy(ICM) patients. We included all patients ≥ 18 years old and we separated patients to three groups: FDCM, NICM and ICM. Chi-square test was used to compare between categorical variables, the t-test was used to compare between continues variables, and Cox-proportional hazards model was used to perform time-dependent survival analyses.RESULTS Of the 24809 adults listed for HT, we identified 677 patients(2.7%) with the diagnosis of FDCM. Compared to patients with NICM and ICM, FDCM patients were younger(FDCM 43.9 ± 13.5 vs NICM 50.9 ± 12.3, P < 0.001, vs ICM 58.5 ±8.1, P < 0.001), more frequently listed as status 2(FDCM 35.2% vs NICM 26.5%, P< 0.001), with significantly lower left ventricular assist device(LVAD) utilization(FDCM 18.4% vs NICM 25.1%, P < 0.001; vs ICM 25.6%, P < 0.001), but higher use of total artificial heart(FDCM 1.3% vs NICM 0.6%, P = 0.039; vs ICM 0.4%, P =0.002). Additionally, patients with FDCM were less frequently delisted for clinical deterioration or death and more likely to be transplanted compared to those with NICM [hazard ratio(HR): 0.617, 95% confidence interval(CI): 0.47-0.81; HR: 1.25,95%CI: 1.14-1.37, respectively], and ICM(HR: 0.5, 95%CI: 0.38-0.66; HR: 1.18,95%CI: 1.08-1.3, respectively). There was more frequent rejection among patients with FDCM(FDCM 11.4% vs NICM 9.8%, P = 0.28; vs ICM 8.4%, P = 0.034). One,three, and five post-transplant survival of patients with FDCM(91%, 88% and80%) was similar to those with NICM(91%, 84%, 79%, P = 0.225), but superior to those with ICM(89%, 82%, 75%, P = 0.008), respectively.CONCLUSION End-stage FDCM patients are more likely to be transplanted, more likely to have early rejection, and have similar or higher survival than patients with other cardiomyopathies.展开更多
Background Increased red blood cell distribution width （RDW） is associated with adverse outcomes in patients with heart failure （HF）. The objective of this study was to compare the differences in the predictive va...Background Increased red blood cell distribution width （RDW） is associated with adverse outcomes in patients with heart failure （HF）. The objective of this study was to compare the differences in the predictive value of RDW in patients with HF due to different causes. Methods We retrospectively investigated 1,021 HF patients from October 2009 to December 2011 at Fuwai Hospital （Beijing, China）. HF in these patients was caused by three diseases; coronary heart disease （CHD）, dilated cardiomyopathy （DCM） and valvular heart disease （VHD）. Patients were followed-up for 21 ~ 9 months. Results The RDW, mortality and survival duration were significantly different among the three groups. Kaplan-Meier analysis showed that the cumulative survival decreased significantly with increased RDW in patients with HF caused by CHD and DCM, but not in those with HF patients caused by VHD. In a multivariable model, RDW was identified as an independent predictor for the mortality of HF patients with CHD （P 〈 0.001, HR 1.315, 95% CI 1.122-1.543）. The group with higher N-terminal pro-brain natriuretic peptide （NT-proBNP） and higher RDW than median had the lowest cumulative survival in patients with HF due to CHD, but not in patients with HF due to DCM. Conclusions RDW is a prognostic indicator for patients with HF caused by CHD and DCM; thus, RDW adds important information to NT-proBNP in CHD caused HF patients.展开更多
Background Contemporary heart failure medications have led to considerable improvement in the survival of patients with heart failure. However,limited evidence is available regarding the effect of those medications in...Background Contemporary heart failure medications have led to considerable improvement in the survival of patients with heart failure. However,limited evidence is available regarding the effect of those medications in patients with idiopathic dilated cardiomyopathy (IDCM),particularly in China. We sought to analyze the trends in clinical characteristics and the prescription rate of recommended therapies and its prognostic impact in patients with IDCM. Methods From 2009 to 2016,1441 consecutive patients (age: 55±14 years,68% men,LVEF: 33%± 12%) fulfilling World Health Organization criteria for IDCM were enrolled in the current retrospective cohort study. Temporal trends of baseline clinical characteristics,treatment and prognosis were analyzed,and potential influential factors were explored. Results Rates of patients receiving angiotensin-converting enzyme inhibitors/angiotensin II receptors blockers,β-blockers,aldosterone receptor antagonists and diuretics increased from 55%,45%,58%,51% in 2009 to 67%,69%,71%,64% in 2016,respectively (P < 0.05);whereas,the proportion of patients receiving digoxin decreased from 39% in 2009 to 28% in 2016 (P < 0.05). The overall proportion of patients with optimal guideline-directed medical therapy (GDMT) was 44.6%;however,that rate increased from 33% in 2009 to 41%,49% and 56% in 2012,2014 and 2016 respectively (P < 0.05). Patients with optimal GDMT had a better outcome than those without,but there was no temporal trend toward improvement in the overall long-term prognosis of IDCM patients with the years. There was a trend towards admission of patients with milder disease and toward increased admission to a cardiology ward with the years. Conclusions An improvement in prescription rates of guideline-recommended medications in IDCM patients was observed. However,it remains suboptimal,and there is still some room for improvement. The prognosis of patients with optimal GDMT was better than those without. Moreover,the following patient category also had an improved prognosis: patients with LVEF ≥ 40%,with device therapy,and those admitted to a cardiology ward.展开更多
This study aimed to determine the prevalence and clinical features of Arrhythmogenic Right Ventricular Cardiomyopathy(ARVC)caused by pathogenic mutations in the Phospholamban(PLN)gene.The study included 170 patients w...This study aimed to determine the prevalence and clinical features of Arrhythmogenic Right Ventricular Cardiomyopathy(ARVC)caused by pathogenic mutations in the Phospholamban(PLN)gene.The study included 170 patients who had a confrmed diagnosis of ARVC and underwent PLN genetic screening using next-generation sequencing.The fndings of this study provide valuable insights into the association between PLN mutations and ARVC,which can aid in the development of more efective diagnostic and treatment strategies for ARVC patients.Out of the patients evaluated,six had a rare pathogenic mutation in PLN with the same p.R14del variant.Family screening revealed that heterozygous carriers of p.R14del exhibited a defnite ARVC phenotype.In clinical studies,individuals with the p.R14del mutation experienced a similar rate of malignant arrhythmia events as those with classic desmosome mutations.After adjusting for covariates,individuals with PLN mutations had a two point one seven times greater likelihood of experiencing transplant-related risks compared to those who did not possess PLN mutations(95%CI 1.08–6.82,p=0.035).The accumulation of left ventricular fat and fbers is a pathological marker for ARVC patients with p.R14del mutations.In a cohort of 170 Chinese ARVC patients,three point fve percent of probands had the PLN pathogenic variant(p.R14del)and all were female.Our data shows that PLN-related ARVC patients are at high risk for ventricular arrhythmias and heart failure,which requires clinical diferentiation from classic ARVC.Furthermore,carrying the p.R14del mutation can be an independent prognostic risk factor in ARVC patients.展开更多
BACKGROUND Wilms tumor is the most common renal malignancy in childhood. It occurs primarily between the ages of 2 and 5 years. The usual manifestations are abdominal mass, hypertension, and hematuria. The case presen...BACKGROUND Wilms tumor is the most common renal malignancy in childhood. It occurs primarily between the ages of 2 and 5 years. The usual manifestations are abdominal mass, hypertension, and hematuria. The case presented here had an unusual presentation, with dilated cardiomyopathy and hypertension secondary to the Wilms tumor. CASE SUMMARY A 3-year-old boy presented with a 5-d history of irritability, poor appetite, and respiratory distress. His presenting clinical symptoms were dyspnea, tachycardia, hypertension, and a palpable abdominal mass at the left upper quadrant. His troponin T and pro-B-type natriuretic peptide levels were elevated. Echocardiography demonstrated a dilated hypokinetic left ventricle with an ejection fraction of 29%, and a suspected left renal mass. Computed tomography scan revealed a left renal mass and multiple lung nodules. The definitive diagnosis of Wilms tumor was confirmed histologically. The patient was administered neoadjuvant chemotherapy and underwent radical nephrectomy. After surgery, radiotherapy was administered, and the adjuvant chemotherapy was continued. The blood pressure and left ventricular function normalized after the treatments. CONCLUSION Abdominal mass, dilated cardiomyopathy and hypertension can indicate Wilms tumor in pediatric patients. Chemotherapy and tumor removal achieve successful treatment.展开更多
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.
文摘Background Previous studies had demonstrated hemostatic abnormalities in patients with heart failure (HF) and several studies have shown that abnormal coagulation indices, represented by elevated D-dimer, had prognostic significance in patients with compatible or acute decompensated HF. However, the impact of D-dimer on the outcome in patients with end-stage HF remains unclear. Methods A total of 244 consecutive patients with end-stage HF due to idiopathic dilated cardiomyopathy (DCM) were prospectively enrolled from February 2011 to September 2014. D-dimer levels were measured and its prognostic value was assessed. Primary endpoint was all-cause mortality during the follow-up period. Secondary endpoints were stroke, bleeding, occurrence of sustained ventricular tachycardia or ventricular fibrillation, and major adverse cardiovascular events (MACE). Results D-dimer was significantly elevated in the non-survivors (median: 0.8 vs. 1.1 mg/L, P < 0.001). Traditional markers including B-type natriuretic peptide, troponin I, left ventricular ejection fraction, and left ventricular end-diastolic dimension provided limited prognostic value;but the addition of D-dimer refined the risk stratification. The optimal cut-off value of D-dimer to predict all-cause mortality was 0.84 mg/L by receiver operator characteristic analysis. Elevated D-dimer level was independently associated with increased risk of long-term all-cause mortality (HR = 2.315, 95% CI: 1.570–3.414, P < 0.001) and MACE (HR = 1.256, 95% CI: 1.058–1.490, P = 0.009), and the predictive value was independent of age, sex, atrial fibrillation and anticoagulation status. Conclusions Elevated D-dimer level was independently associated with poor long-term outcome in patients with end-stage HF secondary to idiopathic DCM, and the predictive value was superior to that of traditional prognostic markers.
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Background:To evaluate the clinical efficacy of oral administration of Chinese medicines with warming Yang effects and Western medicine in the treatment of heart failure caused by dilated cardiomyopathy.Methods:Seven databases including Chinese National Knowledge Infrastructure,Weipu database,Wanfang database,China Biomedical Literature Service System,Cochrane library,PubMed,and Embase were searched.The search date was from established to October 2019.Randomized clinical trials of dilated cardiomyopathy patients with heart failure under the combination treatment of Chinese medicines with warming Yang effects and Western medicine were included.We then assessed the methodological quality of included literatures,extracted valid data and conducted systematically evaluation according to the Cochrane systematic review method.Outcome index included clinical efficacy,left ventricular ejection fraction,and brain natriuretic peptide.Results:Meta-analysis results showed that the clinical effective rate was higher in the combination group than that in the control group(RR=1.24,95%CI(1.14,1.34),P<0.01).In addition,the combination group could improve left ventricular ejection fraction compared with the control group(Std.MD=0.85,95%CI(0.69,1.01),P<0.01).However,the meta-analysis of brain natriuretic peptide levels showed that the included literatures have higher heterogeneity and the meta-analysis results were unstable.So the results of brain natriuretic peptide were abandoned.Conclusion:Oral administration of Chinese medicines with warming Yang effects combined with Western medicine is better than Western medicine alone in improving clinical effect and left ventricular ejection fraction,but it is not clear whether brain natriuretic peptide can be improved.Because the quality of the included studies is not high and inconsistent outcome index,more standardized and rigorous randomized double-blind controlled trials are needed to validate and guide clinical use.
文摘BACKGROUND Familial dilated cardiomyopathy(FDCM) account for 20%-30% of non-ischemic cardiomyopathies(NICM). Previous published data showed that some patients with FDCM tend to have rapidly progressive disease; however, five-year mortality was not significantly different in the familial and non-familial forms of NICM with optimal medical therapy.AIM To better define the characteristics and clinical outcomes of FDCM patients listed for heart transplantation(HT).METHODS We queried the United Network for Organ Sharing Registry to identify FDCM patients listed for HT between January 2008 and September 2015 and compared them to NICM and ischemic cardiomyopathy(ICM) patients. We included all patients ≥ 18 years old and we separated patients to three groups: FDCM, NICM and ICM. Chi-square test was used to compare between categorical variables, the t-test was used to compare between continues variables, and Cox-proportional hazards model was used to perform time-dependent survival analyses.RESULTS Of the 24809 adults listed for HT, we identified 677 patients(2.7%) with the diagnosis of FDCM. Compared to patients with NICM and ICM, FDCM patients were younger(FDCM 43.9 ± 13.5 vs NICM 50.9 ± 12.3, P < 0.001, vs ICM 58.5 ±8.1, P < 0.001), more frequently listed as status 2(FDCM 35.2% vs NICM 26.5%, P< 0.001), with significantly lower left ventricular assist device(LVAD) utilization(FDCM 18.4% vs NICM 25.1%, P < 0.001; vs ICM 25.6%, P < 0.001), but higher use of total artificial heart(FDCM 1.3% vs NICM 0.6%, P = 0.039; vs ICM 0.4%, P =0.002). Additionally, patients with FDCM were less frequently delisted for clinical deterioration or death and more likely to be transplanted compared to those with NICM [hazard ratio(HR): 0.617, 95% confidence interval(CI): 0.47-0.81; HR: 1.25,95%CI: 1.14-1.37, respectively], and ICM(HR: 0.5, 95%CI: 0.38-0.66; HR: 1.18,95%CI: 1.08-1.3, respectively). There was more frequent rejection among patients with FDCM(FDCM 11.4% vs NICM 9.8%, P = 0.28; vs ICM 8.4%, P = 0.034). One,three, and five post-transplant survival of patients with FDCM(91%, 88% and80%) was similar to those with NICM(91%, 84%, 79%, P = 0.225), but superior to those with ICM(89%, 82%, 75%, P = 0.008), respectively.CONCLUSION End-stage FDCM patients are more likely to be transplanted, more likely to have early rejection, and have similar or higher survival than patients with other cardiomyopathies.
文摘Background Increased red blood cell distribution width （RDW） is associated with adverse outcomes in patients with heart failure （HF）. The objective of this study was to compare the differences in the predictive value of RDW in patients with HF due to different causes. Methods We retrospectively investigated 1,021 HF patients from October 2009 to December 2011 at Fuwai Hospital （Beijing, China）. HF in these patients was caused by three diseases; coronary heart disease （CHD）, dilated cardiomyopathy （DCM） and valvular heart disease （VHD）. Patients were followed-up for 21 ~ 9 months. Results The RDW, mortality and survival duration were significantly different among the three groups. Kaplan-Meier analysis showed that the cumulative survival decreased significantly with increased RDW in patients with HF caused by CHD and DCM, but not in those with HF patients caused by VHD. In a multivariable model, RDW was identified as an independent predictor for the mortality of HF patients with CHD （P 〈 0.001, HR 1.315, 95% CI 1.122-1.543）. The group with higher N-terminal pro-brain natriuretic peptide （NT-proBNP） and higher RDW than median had the lowest cumulative survival in patients with HF due to CHD, but not in patients with HF due to DCM. Conclusions RDW is a prognostic indicator for patients with HF caused by CHD and DCM; thus, RDW adds important information to NT-proBNP in CHD caused HF patients.
基金supported by grants from the National Natural Science Foundation of China (No.81400267 & No.81370219)the Sichuan Provincial Department of Science and Technology (2016FZ0084)
文摘Background Contemporary heart failure medications have led to considerable improvement in the survival of patients with heart failure. However,limited evidence is available regarding the effect of those medications in patients with idiopathic dilated cardiomyopathy (IDCM),particularly in China. We sought to analyze the trends in clinical characteristics and the prescription rate of recommended therapies and its prognostic impact in patients with IDCM. Methods From 2009 to 2016,1441 consecutive patients (age: 55±14 years,68% men,LVEF: 33%± 12%) fulfilling World Health Organization criteria for IDCM were enrolled in the current retrospective cohort study. Temporal trends of baseline clinical characteristics,treatment and prognosis were analyzed,and potential influential factors were explored. Results Rates of patients receiving angiotensin-converting enzyme inhibitors/angiotensin II receptors blockers,β-blockers,aldosterone receptor antagonists and diuretics increased from 55%,45%,58%,51% in 2009 to 67%,69%,71%,64% in 2016,respectively (P < 0.05);whereas,the proportion of patients receiving digoxin decreased from 39% in 2009 to 28% in 2016 (P < 0.05). The overall proportion of patients with optimal guideline-directed medical therapy (GDMT) was 44.6%;however,that rate increased from 33% in 2009 to 41%,49% and 56% in 2012,2014 and 2016 respectively (P < 0.05). Patients with optimal GDMT had a better outcome than those without,but there was no temporal trend toward improvement in the overall long-term prognosis of IDCM patients with the years. There was a trend towards admission of patients with milder disease and toward increased admission to a cardiology ward with the years. Conclusions An improvement in prescription rates of guideline-recommended medications in IDCM patients was observed. However,it remains suboptimal,and there is still some room for improvement. The prognosis of patients with optimal GDMT was better than those without. Moreover,the following patient category also had an improved prognosis: patients with LVEF ≥ 40%,with device therapy,and those admitted to a cardiology ward.
基金the National Natural Science Foundation for Distinguished Young Scholars of China(Grant No.82125004)the Shenzhen Science and Technology Innovation Commission(Grant No.JCYJ20220818103414030)+2 种基金the National Natural Science Foundation of China(Grant No.82300397)the key project of Shenzhen Basic Research Program(Natural Science Foundation of Shenzhen,Grant No.20220241)the Program for Guangdong Introducing Innovative and Enterpreneurial Teams(Grant No.2019ZT08Y481).
文摘This study aimed to determine the prevalence and clinical features of Arrhythmogenic Right Ventricular Cardiomyopathy(ARVC)caused by pathogenic mutations in the Phospholamban(PLN)gene.The study included 170 patients who had a confrmed diagnosis of ARVC and underwent PLN genetic screening using next-generation sequencing.The fndings of this study provide valuable insights into the association between PLN mutations and ARVC,which can aid in the development of more efective diagnostic and treatment strategies for ARVC patients.Out of the patients evaluated,six had a rare pathogenic mutation in PLN with the same p.R14del variant.Family screening revealed that heterozygous carriers of p.R14del exhibited a defnite ARVC phenotype.In clinical studies,individuals with the p.R14del mutation experienced a similar rate of malignant arrhythmia events as those with classic desmosome mutations.After adjusting for covariates,individuals with PLN mutations had a two point one seven times greater likelihood of experiencing transplant-related risks compared to those who did not possess PLN mutations(95%CI 1.08–6.82,p=0.035).The accumulation of left ventricular fat and fbers is a pathological marker for ARVC patients with p.R14del mutations.In a cohort of 170 Chinese ARVC patients,three point fve percent of probands had the PLN pathogenic variant(p.R14del)and all were female.Our data shows that PLN-related ARVC patients are at high risk for ventricular arrhythmias and heart failure,which requires clinical diferentiation from classic ARVC.Furthermore,carrying the p.R14del mutation can be an independent prognostic risk factor in ARVC patients.
文摘BACKGROUND Wilms tumor is the most common renal malignancy in childhood. It occurs primarily between the ages of 2 and 5 years. The usual manifestations are abdominal mass, hypertension, and hematuria. The case presented here had an unusual presentation, with dilated cardiomyopathy and hypertension secondary to the Wilms tumor. CASE SUMMARY A 3-year-old boy presented with a 5-d history of irritability, poor appetite, and respiratory distress. His presenting clinical symptoms were dyspnea, tachycardia, hypertension, and a palpable abdominal mass at the left upper quadrant. His troponin T and pro-B-type natriuretic peptide levels were elevated. Echocardiography demonstrated a dilated hypokinetic left ventricle with an ejection fraction of 29%, and a suspected left renal mass. Computed tomography scan revealed a left renal mass and multiple lung nodules. The definitive diagnosis of Wilms tumor was confirmed histologically. The patient was administered neoadjuvant chemotherapy and underwent radical nephrectomy. After surgery, radiotherapy was administered, and the adjuvant chemotherapy was continued. The blood pressure and left ventricular function normalized after the treatments. CONCLUSION Abdominal mass, dilated cardiomyopathy and hypertension can indicate Wilms tumor in pediatric patients. Chemotherapy and tumor removal achieve successful treatment.
