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Background: Atrioventricular block (AVB) is common in the elderly and therefore considered to be a degenerative disease of the cardiac conduction system. However, there exist other etiologies contributing to AVB in young patients. This study aimed to determine the etiologies in patients aged before 60 years receiving their first pacemaker implantation for AVB in China. Methods and Results: Medical records and diagnostic tests of AVB patients were reviewed to identify the etiologies between 2010 and 2021 at Guangdong Provincial People's Hospital. Eight hundred and twenty‐six patients (median age 47 years; 47.9% males) were included. The etiologies were identified in 336 (40.7%) cases, including complications to cardiac surgery (n = 190 [23.0%]), myocarditis (n = 57 [6.9%]), myocardial infarction (n = 25 [3.0%]), complications to catheter‐based interventional procedures (n = 21 [2.5%]) and others (n = 43 [5.2%]). AVB caused by myocardial infarction was more common in men (5.8% vs. 0.5%, p <.001), while women received pacing treatment earlier (48 vs. 46 years, p =.019). Men were more likely to suffer from dilated cardiomyopathy (6.6% vs. 2.1%, p =.001) and atrial fibrillation/flutter (23.0% vs. 12.8%, p <.001). The number of first pacemaker implantation increased with age especially among patients with unclear etiologies. Conclusion: The etiology of AVB was only determined in approximately 40% of patients receiving their first pacemaker implantation aged before 60 years. The predominance of AVB with unknown etiology and potential gender differences warrants further studies. [ABSTRACT FROM AUTHOR]

Background: Dilated cardiomyopathy (DCM) is a severe heterogeneous cardiomyopathy characterized by cardiac enlargement and declining heart function, often leading to refractory heart failure and life-threatening outcomes, particularly prevalent in China. The challenge lies in the scarcity of targeted therapies with substantial efficacy for DCM. Additionally, traditional anti-heart failure drugs are constrained due to hypotension propensity or limited symptom improvement. Kuoxin Formula (KXF), internally endorsed at Longhua Hospital, demonstrates clear biological evidence for enhancing cardiac function and myocardial remodeling. Previous clinical studies suggest its potential to enhance patients' quality of life. This trial aims to further evaluate KXF's safety and efficacy in managing DCM-related heart failure. Methods: This prospective, randomized, double-blind, placebo-controlled, multicenter trial aims to recruit 230 DCM patients from five centers. Participants will be randomly assigned to either KXF or placebo for 12 weeks, with careful monitoring of key indicators and adverse events. The primary outcome measures the proportion of patients with NT-proBNP reduction exceeding 30%. Secondary outcomes include New York Heart Association functional classification, Traditional Chinese Medicine syndrome scores, 6-minute walk test, Lee's heart failure score, and Minnesota Heart Failure Quality of Life Scale score. Ventricular remodeling will be assessed using cardiac ultrasound and ELISA. Safety metrics and adverse events will be meticulously recorded. Discussion: This study will be the first multicentered research conducted in China that utilizes a randomized, double-blind, placebo-controlled design to investigate the use of TCM in the treatment of DCM. It seeks to develop new theoretical frameworks and provide solid clinical data to support the integration of TCM and modern medicine in treating heart failure in DCM patients. Trial Registration: China Clinical Trial Registry, ChiCTR2300068937. Registered on March 1, 2023. https://www.chictr.org.cn/bin/project/edit?pid=190926. [ABSTRACT FROM AUTHOR]

Cardiac contractility modulation (CCM) is a novel device‐based therapy used to treat patients with heart failure with reduced ejection fraction (HFrEF). In both randomized clinical trials and real‐life studies, CCM has been shown to improve exercise tolerance and quality of life, reverse left ventricular remodeling, and reduce hospitalization in patients with HFrEF. In this case report, we describe for the first time the use of CCM combined with left bundle branch pacing (LBBP) cardiac resynchronization therapy pacemaker (CRT‐P) implantation therapy in a female with a 22‐year history of non‐ischemic dilated cardiomyopathy. With the optimal medical therapy and cardiac resynchronization therapy (CRT) strategies, the patient's quality of life initially recovered to some extent, but began to deteriorate in the past year. Additionally, heart transplantation was not considered due to economic reasons and late stage systolic heart failure. This is the first case of CCM implantation in Fujian Province and the first report of a combined CCM and left bundle branch pacing CRT‐P implantation strategy in a patient with non‐ischemic etiology dilated cardiomyopathy in China. [ABSTRACT FROM AUTHOR]

Cardiomyopathy (CM) is a heterogeneous group of myocardial diseases in children. This study aimed to identify demographic features, clinical presentation and prognosis of children with CM. Clinical characteristics and prognostic factors associated with mortality were evaluated by Cox proportional hazards regression analyses. Genetic testing was also conducted on a portion of patients. Among the 317 patients, 40.1%, 25.2%, 24.6% and 10.1% were diagnosed with dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), left ventricular noncompaction cardiomyopathy (LVNC) and restrictive cardiomyopathy (RCM), respectively. The most common symptom observed was dyspnea (84.2%). Except for HCM, the majority of patients were classified as NYHA/Ross class III or IV. The five-year survival rates were 75.5%, 67.3%, 74.1% and 51.1% in DCM, HCM, LVNC and RCM, respectively. The ten-year survival rates were 60.1%, 56.1%, 57.2% and 41.3% in DCM, HCM, LVNC and RCM, respectively. Survival was inversely related to NYHA/Ross class III or IV in patients with DCM, HCM and RCM. Out of 42 patients, 32 were reported to carry gene mutations. Conclusions: This study demonstrates that CM, especially RCM, is related to a high incidence of death. NYHA/Ross class III or IV is a predictor of mortality in the patients and gene mutations may be a common cause. Trial registration: MR-50-23-011798. What is Known: • Cardiomyopathy (CM) is a heterogeneous group of myocardial diseases and one of the leading causes of heart failure in children due to the lack of effective treatments. • There remains scarce data on Asian pediatric populations though emerging studies have assessed the clinical characteristics and outcomes of CM. What is New: • A retrospective study was conducted and the follow-up records were established to investigate the clinical characteristics, the profile of gene mutations and prognostic outcomes of children with CM in Western China. • CM, especially RCM, is related to a high incidence of death. NYHA/Ross class III or IV is a predictor of mortality in the patients and gene mutations may be a common cause. [ABSTRACT FROM AUTHOR]

Background: Dilated cardiomyopathy type-2D (CMD2D) is a rare heart disease causing a severe cardiomyopathy with neonatal onset and rapid progression to cardiac decompensation and death in untreated patients. CMD2D is an autosomal recessive disease resulting from variants in the RPL3L gene, which encodes the 60 S ribosomal protein exclusively expressed in skeletal and cardiac muscle and plays an essential role in myoblast growth and fusion. Previous reports have only associated CMD2D with a small duplication and seven nucleotide substitution in the RPL3L gene. Case presentation: In this study, we report the case of a 31 days old Chinese infant patient with severe dilated cardiomyopathy (DCM) and rapid decompensation along with other cardiac malformations. In addition to previously reported clinical features, the patient showed the previously unreported complication of occasional premature atrial contractions and a first-degree atrioventricular block. Whole-exome sequencing (WES) revealed compound heterozygous variants (c.80G > A (p.Gly27Asp) and c.1074dupA (p.Ala359fs*6)) in RPL3L (NM_005061.3). The latter novel variant may result in the absence of protein production with a significant decrease in mRNA level, suggesting it is a loss-of-function mutation. Conclusions: This is the first case report of RPL3L-associated neonatal dilated cardiomyopathy in China. The molecular confirmation of the patient expands the genetic spectrum of CMD2D, and the clinical manifestation of CMD2D in the patient provides additional clinical information regarding this disease. [ABSTRACT FROM AUTHOR]

Aims: Dilated cardiomyopathy (DCM) is characterized by unilateral or bilateral ventricular enlargement and reduced ventricular systolic function, with or without heart failure. In previous studies, we found that a history of chronic obstructive pulmonary disease (COPD) or chronic bronchitis is a high risk factor for DCM combined with pulmonary hypertension (PH). Therefore, we propose that the comorbidity of COPD or chronic bronchitis will increase the cardiogenic mortality of patients with DCM., Methods: Data were collected from patients with DCM who were admitted to The First Affiliated Hospital of Guangzhou University of Chinese Medicine from October 2008 to April 2020. The primary endpoint was cardiac death. Multivariable Cox regression analyses were employed to assess the associations between the comorbidities COPD or chronic bronchitis with the study endpoints. Different adjusting models were used to adjust for potential confounders., Results: A total of 305 DCM patients were ultimately enrolled, among whom 46 patients had COPD or chronic bronchitis. The median follow-up was 50 months. The rate of cardiac death in the COPD or chronic bronchitis group was significantly greater than that in the non-COPD or nonchronic bronchitis group ( p  < 0.001). The associations between comorbid COPD or chronic bronchitis and cardiac death remained robust after eliminating the possible effects of confounders. After grouping by PH, the risk difference was mainly derived from the intermediate- or high-probability PH group., Conclusions: Comorbid COPD or chronic bronchitis increased the risk of cardiac death among DCM patients with an intermediate or high PH probability.

Objective: Qili Qiangxin Capsule (QQC), a Chinese patent medicine, is clinically effective in treating dilated cardiomyopathy (DCM). However, the meta-analysis of QCC combined with conventional western medicine (CWM) on DCM remains unexplored. This study aimed to systematically evaluate the efficacy and safety of QCC in the treatment of DCM. Methods: Searched the studies of the combination of QQC and CWM in the treatment of DCM, from databases like PubMed, Cochrane Library, Web of Science, Wan Fang Databases, Chinese Biomedical Literature Database, China Science and Technology Journal Database, China National Knowledge Infrastructure, prior to 15 January 2022. Two reviewers respectively regulated research selection, data extraction, and risk of bias assessment. Review Manager Software 5.4 was used for meta-analysis. Furthermore, GRADE pro3.6.1 software was selected to grade the current evidence in our findings. This meta-analysis has been registered in PROSPERO (CRD42022297906). Results: There were 35 studies pertaining to 3,334 patients included. The meta-analysis showed compared with CWM alone, the combination therapy had significant advantages in improving the clinical efficiency rate (RR = 1.24, 95% CI: 1.19 to 1.29, p < 0.00001), 6 min walking distance (6MWD) (MD = 41.93, 95%CI: 39.82 to 44.04, p < 0.00001), superior in ameliorating the left ventricular ejection fraction (LVEF) (MD = 5.73, 95%CI: 4.70 to 6.77, p < 0.00001), left ventricular end-diastolic dimension (LVEDD) (MD = −4.09, 95%CI: −4.91 to −3.27), p < 0.00001), left ventricular end-systolic diameter (LVESD) (MD = −4.73, 95%CI: −5.63 to −3.84), p < 0.00001) and BNP (MD = −101.09, 95%CI: -132.99 to −69.18), p < 0.00001), and also superior in reducing hypersensitive-C-Reactive Protein (hs-CRP) (MD = −3.78, 95%CI: −4.35 to −3.21), p < 0.00001), Interleukin- 6 (IL-6) (MD = −25.92, 95%CI: −31.35 to -20.50), p < 0.00001), tumor necrosis factor-α (TNF-α) (MD = -5.04, 95%CI: −6.13 to −3.95), p < 0.00001), high mobility group protein B1 (HMGB1) (MD = −4.34, 95%CI: −5.22 to −3.46), p < 0.00001), and adverse reactions (ARs) (RR = 0.70, 95%CI: 0.51–0.97), p = 0.03). The GRADE evidence quality rating presented with moderate or low quality of evidence for the available data. Conclusion: Compared with the control group, QQC combined with CWM may be effective in treating DCM. However, the conclusion of this study must be interpreted carefully due to the inferior quality and ambiguity of bias in the included trials. Systematic Review Registration : https://www.crd.york.ac.uk/prospero, identifier [CRD42022297906]. [ABSTRACT FROM AUTHOR]

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Background: Dilated cardiomyopathy (DCM) is a major cause of heart failure and heart transplantation. Recently, some studies have reported that the autoimmune response in myocardial cells might be related to the pathogenesis of DCM. The CD247 gene has been previously found to be involved in autoimmune disease. Therefore, our study aimed to clarify the hypothesis that there is a certain linkage between polymorphisms of the CD247 gene and the triggering of DCM risk., Methods: In the present study, two single nucleotide polymorphisms (SNPs) of the CD247 gene, rs12141731 and rs858543, were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in 355 DCM patients and 404 age- and sex-matched controls., Results: Pearson's chi-squared test for the CD247 gene revealed that SNP rs858543 (p = 0.001, OR = 0.72, 95% CI = (0.588-0.882), but not SNP rs12141731, was associated with DCM in the Chinese Han population. Haplotype analysis revealed that the CC haplotype was associated with increased DCM susceptibility, while CT was a protective haplotype. Cox multivariate survival analysis indicated that the rs858543 TT genotype (HR: 0.608, 95% CI = 0.402-0.921, p = 0.019) was an independent multivariate predictor for longer overall survival in DCM patients. CD247 mRNA expression levels were significantly decreased in DCM patients (p = 0.02)., Conclusions: Our study suggested that a polymorphism in the CD247 gene may be a risk factor for DCM in the Chinese Han population., Trial Registration: ChiCTR2000029701., (© 2024. The Author(s).)

Objective. To investigate plasma cytokines (interferon gamma, interleukin-4, and interleukin-17) in patients with viral myocarditis (VMC) and evaluate their predictive value in the progression from VMC to dilated cardiomyopathy (DCM). Methods. A prospective, multicenter, observational study included 536 patients with newly diagnosed VMC admitted in cardiology departments of 24 tertiary super specialised university-affiliated hospitals in the China registry from January 2012 to June 2016. Demographics and clinical characteristics at baseline and after three months were collected, including laboratory blood tests, ECG, echocardiography, and drug treatment in each participating site. The plasma anti-viral antibodies (Abs), anti-heart autoimmune Abs, and cytokines were detected by ELISA. Results. Of the 536 patients, 534 were included for analysis after two patients died in less than a month. The plasma levels of IFN-γ, IL-4, and IL-17 were continually higher in patients with incident DCM than in those without incident DCM at baseline, from the 1st month and the 3rd month; all had a P value of <0.0001. There was a positive correlation between IL-4 and LVEDd (r = 0.30 , P < 0.0001) and between IL-17 and LVEDd (r = 0.11 , P = 0.02). When all these covariates have entered the model simultaneously, elevated IL-4 and IL-17 were still significantly associated with DCM incidence. The RR (95% CI) of DCM incidence were 1.04 (1.02-1.06) for IL-4 and 5.24 (2.81-9.79) for IL-17. Conclusion. The continued elevation of plasma IL-4 and IL-17 in VMC patients were associated with a high incidence of DCM at three months, and these two cytokines were independent predictors for the progression from VMC to DCM. [ABSTRACT FROM AUTHOR]

Background: The aim of this study is to investigate the prevalence and outcome of tricuspid regurgitation (TR) in the Chinese population. Methods: The echocardiography database, including 134,874 patients at our heart center from 2010 to 2012, was retrospectively analyzed. Results: The rates of mild, moderate, and severe TR were 2.96, 2.22, and 1.39%, respectively. Of these patients, 4.86% had primary TR, 91.41% had functional TR, and 3.73% had unexplained TR. The rate of TR was increased in elders (odds ratio: 1.038 for 1 year's increment; 95% confidence interval: 1.037–1.040; p < 0.001) and females (odds ratio: 1.386; 95% confidence interval: 1.327–1.448, p < 0.001). The major etiologies of TR were left-sided valve heart disease (VHD) and dilated cardiomyopathy. The survival rate of severe TR patients with pulmonary artery hypertension (PAH) was lower than in those without PAH (p < 0.0001). There was a positive association between the prevalence of TR and impaired left ventricular ejection fraction. Compared to the non-left-sided VHD group, the left-sided VHD group had a better prognosis among severe TR patients. The 5-year survival rates were 79.69, 71.12, and 77.01% in the groups of left-sided VHD, non-left-sided VHD, and all patients. Conclusions: Patients with severe TR have a bad prognosis, especially those with non-left-sided VHD and those with PAH. [ABSTRACT FROM AUTHOR]

This letter by Li et al. discusses a study by Tang et al. that explores the role of Jmjd4 in dilated cardiomyopathy. The study found that pressure overload reduces Jmjd4 expression, leading to the accumulation of inactive Pkm2 dimer and the development of dilated cardiomyopathy. The letter also mentions previous studies that have shown the involvement of other Jmjd family proteins in heart failure. The authors suggest that further research is needed to understand the comprehensive effects of the Jmjd family in dilated cardiomyopathy. The study also raises questions about the conformational changes of Pkm2 and the complex role of Pkm2 in heart failure. The work was supported by a grant from the National Natural Science Foundation of China. [Extracted from the article]

Background: Machine learning (ML) can identify and integrate connections among data and has the potential to predict events. Heart failure is primarily caused by cardiomyopathy, and different etiologies require different treatments. The present study examined the diagnostic value of a ML algorithm that combines echocardiographic data to automatically differentiate ischemic cardiomyopathy (ICM) from dilated cardiomyopathy (DCM)., Methods: We retrospectively collected the echocardiographic data of 200 DCM patients and 199 ICM patients treated in the First Affiliated Hospital of Guangxi Medical University between July 2016 and March 2022. All patients underwent invasive coronary angiography for diagnosis of ICM or DCM. The data were randomly divided into a training set and a test set via 10-fold cross-validation. Four ML algorithms (random forest, logistic regression, neural network, and XGBoost [ML algorithm under gradient boosting framework]) were used to generate a training model for the optimal subset, and the parameters were optimized. Finally, model performance was independently evaluated on the test set, and external validation was performed on 79 patients from another center., Results: Compared with the logistic regression model (area under the curve [AUC] = 0.925), neural network model (AUC = 0.893), and random forest model (AUC = 0.900), the XGBoost model had the best identification rate, with an average sensitivity of 72% and average specificity of 78%. The average accuracy was 75%, and the AUC of the optimal subset was 0.934. External validation produced an AUC of 0.804, accuracy of 78%, sensitivity of 64% and specificity of 93%., Conclusions: We demonstrate that utilizing advanced ML algorithms can help to differentiate ICM from DCM and provide appreciable precision for etiological diagnosis and individualized treatment of heart failure patients., (© 2023. BioMed Central Ltd., part of Springer Nature.)

Background: Ventricular conduction blocks (VCBs) are associated with poor outcomes in patients with known cardiac diseases. However, the prognostic implications of VCB patterns in dilated cardiomyopathy (DCM) patients need to be evaluated. The purpose of this study was to determine all-cause mortality in patients with DCM and VCB.Methods: This cohort study included 1119 DCM patients with a median follow-up of 34.3 (19.5-60.8) months, patients were then divided into left bundle branch block (LBBB), right bundle branch block (RBBB), intraventricular conduction delays (IVCD) and narrow QRS groups. The all-cause mortality was assessed using Kaplan-Meier survival curves and Cox regression.Results: Of those 1119 patients, the all-cause mortality rates were highest in patients with IVCD (47.8, n = 32), intermediate in those with RBBB (32.9, n = 27) and LBBB (27.1 %, n = 60), and lowest in those with narrow QRS (19.9 %, n = 149). The all-cause mortality risk was significantly different between the VCB and narrow QRS group (log-rank χ2 = 51.564, P < 0.001). The presence of RBBB, IVCD, PASP ≥ 40 mmHg, left atrium diameter and NYHA functional class were independent predictors of all-cause mortality in DCM patients.Conclusions: Our findings indicate that RBBB and IVCD at admission,but not LBBB, were independent predictors of all-cause mortality in patients with DCM. [ABSTRACT FROM AUTHOR]

Objective: To investigate the correlations among persistent viral infection, heart function and Chinese medicine (CM) difined-syndromes in patients with dilated cardiomyopathy (DCM). Methods: Fifty patients with DCM in the First Affiliated Hospital of Zhejiang Chinese Medical University from October 2009 to December 2011 were selected as the research subjects, and 30 healthy people were simultaneously selected as the normal control group to detect persistent viral infections after admission. The CM syndrome type and grade of heart function were then evaluated. The expression level of Coxsackie adenovirus receptor (CAR) was detected using the flow cytometry (FCM) technique, coxsackie virus RNA (CVB-RNA) using reverse transcription polymerase chain reaction (RTPCR), and the plasma brain natriuretic peptide (BNP) level with a Triage meter plus diagnosis instrument. Finally, the parameters such as left ventricular end diastolic diameter (LVEDd) and left ventricular ejection fraction (LVEF) were measured by ultrasonic cardiogram. Person correlation analysis was used for measured data, Spearman correlation analysis for rating data, and the Chi-square test for numerical data. Results: CVB-RNA was positive in 22 patients (44%) with DCM, while only 6 cases (20%) were CVB-RNA-positive in the normal control group, with a significant difference between the two groups ( P<0.01). The expression level of CAR was significantly elevated in the DCM group compared with the normal control group ( P<0.01). In CVB-RNA-positive patients (22 cases), the expression level of CAR was significantly higher than in CVB-RNA-negative patients (28 cases; P<0.01). In the DCM patients, there was a positive correlation between the CAR expression and the BNP level ( r=0.34, P<0.05), while no significant difference was found between the CAR expression and the LVEF and LVEDd ( r=−0.32, 0.30, P>0.05). There was no clear correlation between virus infection and the CM syndrome types in DCM patients ( r=−0.22, P>0.05). According to the sequence of syndrome types: phlegm → qi deficiency → blood stasis → hydroretention with asthenic yang (from low to high), a positive correlation was existed between the BNP levels and CM syndrome types ( r=0.139, P<0.05). Conclusion: The expression of CAR on the surface of white cells could be used to detect persistent viral infection. The expression level of CAR and heart function in DCM patients were highly correlated. The expression level of BNP may serve as an objective index for differentiating CM syndromes for patients with DCM. [ABSTRACT FROM AUTHOR]

Objective: Keshan disease (KD) is a fatal endemic dilated cardiomyopathy with unclear etiology and pathogenesis, and a high mortality in China. Pathologic studies confirmed that different degree of myocardial fibrosis existed in various types of KD. Myocardial fibrosis is an important contributor to the pathophysiology of left ventricular remodeling. Recently, galectin-3 (Gal-3) as a marker of cardiac fibrosis and heart failure was approved by the US FDA. The aim of this study was to evaluate the changes of serum level of Gal-3 in chronic KD (CKD) and their clinical implications. Methods: The levels of serum Gal-3 were measured by using enzyme-linked immunosorbent assay (ELISA) in 37 CKD patients and 32 healthy controls. Echocardiography was used to determine parameter of left ventricular ejection fraction (LVEF) and left ventricular end-diastolic dimension (LVEDD). Results: The serum concentration of Gal-3 ([95.81±18.99] ng/ml versus [48.16±11.09] ng/ml, t=6.906, P<0.001) and LVEDD ([60.46±7.63] mm versus (42.69±10.66) mm, t=3.61, P<0.01) were significantly higher, while LVEF ([42.69±10.66]% versus [62.16±6.38]%, t=4.679, P<0.01) were significantly lower in CKD patients compared with healthy controls. A negative correlation was found between elevated Gal-3 and lower LVEF (r=−0.882, P<0.001) and a positive correlation was found between elevated Gal-3 levels and enlarged LVEDD (r=0.834, P<0.001) or higher NYHA class (r=0.854, P<0.01) in CKD patients. Conclusion: Serum concentration of Gal-3 is strongly correlated with poorer left ventricular systolic function, enlarged LVEDD and higher New York Heart Association (NYHA) class, which may provide indirectly diagnostic information on myocardial fibrosis and heart function in CKD patients. [ABSTRACT FROM AUTHOR]

Keshan disease (KD) is a dilated cardiomyopathy closely related with a diet deficient in the mineral selenium. It is named for the northeastern Chinese county Keshan, where the disease prevalence is high because of selenium-deficient soil. KD is a gene-environment interaction disease. Here, we used stepwise multiple regression analysis to analyze the risk factors of the disease and the main clinical features in 71 KD patients and 290 controls. The variables analyzed included age, sex, family history of KD, blood selenium level, glutathione peroxidase-1 (GPx-1) activity, variance at codon198 in GPx- 1 gene, residence in an endemic area, abnormal electrocardiography (ECG) findings, and cardiothoracic (CT) ratio. The main risk factors found were low GPx-1 activity, family history of KD and living in an endemic area. The main clinical features were increased cardiac load on ECG and increased CT ratio and Tei index. Public health and clinical prevention efforts could focus on increasing GPx-1 activity to address KD. Is selenium deficiency really the certain cause of KD? This is not at all a settled question. And further study is promptly required to investigate the etiology of KD. [ABSTRACT FROM AUTHOR]

Abstract: Background: Epidermal growth factor receptor (EGFR) has been recently implicated in pathological tissue remodelling and sustained remodelling processes can lead to pathological outcomes, such as cardiac hypertrophy in heart failure. Dilated cardiomyopathy (DCM) is the most common form of heart muscle disease, comprising 60% of the cases of identified cardiomyopathy. This study aimed to evaluate the association between the EGFR gene polymorphisms and DCM in a Chinese population. Methods: Genomic DNA was extracted from whole blood samples in 163 DCM patients and 185 control subjects. EGFR R497K (Arg497Lys) and (CA)n polymorphisms were genotyped, and the difference of their allele and genotype frequencies distribution between DCM patients and controls were analyzed. Results: No significant difference was observed in the frequency distribution of genotype and allele in (CA)n repeat between DCM patients and control subjects. The frequency of Lys allele in DCM patients was significantly higher than that in controls (64.4% and 53.8%, in DCM patients and controls, respectively p =0.005, OR=1.556, 95% CI=1.146–2.111). The frequency for Lys/Lys genotype was significantly overrepresented in DCM patients (p =0.020, OR=2.105, 95% CI=1.134–3.905, for Lys/Lys vs. Arg/Arg). Conclusion: This study suggests that the R497K polymorphism may be associated with DCM in a Chinese population. [Copyright &y& Elsevier]

Aim: We aimed to investigate the association of SIRT4 gene polymorphisms with the susceptibility and prognosis of dilated cardiomyopathy (DCM) in a Chinese population. Materials & methods: A total of 369 controls and 373 DCM patients were enrolled. Three tag single-nucleotide polymorphisms (rs2261612, rs2522138 and rs16950058) on SIRT4 were evaluated. Results: G carriers of rs2261612 were associated with the susceptibility of DCM in codominant, dominant and overdominant genetic models (all p < 0.01). Furthermore, the AG/GG and AG genotype of rs2261612 in dominant and overdominant models correlated with poor prognosis of DCM, independent of left ventricular ejection fraction and cardiac resynchronization therapy (p < 0.001). Conclusion: SIRT4 polymorphisms were associated with the susceptibility and prognosis of DCM in a Chinese population.

Dilated cardiomyopathy (DCM) is a myocardial disease characterized by bilateral or left ventricular cardiac dilation and systolic dysfunction that can lead to heart failure and sudden cardiac death in children. Many studies have focused on genetic variation in DCM-related genes in adult populations; however, the mutational landscape in pediatric DCM patients remains undetermined, especially in the Chinese population. We applied next-generation sequencing (NGS) technology to genetically analyze 46 pediatric DCM patients to reveal genotype-phenotype correlations. Our results indicated DCM-associated pathogenic mutations in 10 genes related to the structure or function of the sarcomere, desmosome, and cytoskeleton. We also identified 6 pathogenic mutations (5 novel) in the Titin (TTN) gene that resulted in truncated TTN variants in 6 (13%) out of 46 patients. Correlations between TTN mutations and clinical outcomes were assessed. Our data indicate that one-third of pediatric DCM cases are caused by genetic mutations. The role of TTN variants should not be underestimated in pediatric DCM and age-dependent pathogenic penetrance of these mutations should be considered for familial DCM cases. We argue that genetic testing of DCM cases is valuable for predicting disease severity, prognosis, and recurrence risk, and for screening first-degree relatives., (© 2021. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

Rationale: Mitochondrial dysfunction facilitates heart failure development forming a therapeutic target, but the mechanism involved remains unclear. We studied whether the Hippo signaling pathway mediates mitochondrial abnormalities that results in onset of dilated cardiomyopathy (DCM). Methods: Mice with DCM due to overexpression of Hippo pathway kinase Mst1 were studied. DCM phenotype was evident in adult animals but contractile dysfunction was identified as an early sign of DCM at 3 weeks postnatal. Electron microscopy, multi-omics and biochemical assays were employed. Results: In 3-week and adult DCM mouse hearts, cardiomyocyte mitochondria exhibited overt structural abnormalities, smaller size and greater number. RNA sequencing revealed comprehensive suppression of nuclear-DNA (nDNA) encoded gene-sets involved in mitochondria turnover and all aspects of metabolism. Changes in cardiotranscriptome were confirmed by lower protein levels of multiple mitochondrial proteins in DCM heart of both ages. Mitochondrial DNA-encoded genes were also downregulated; due apparently to repression of nDNA-encoded transcriptional factors. Lipidomics identified remodeling in cardiolipin acyl-chains, increased acylcarnitine content but lower coenzyme Q10 level. Mitochondrial dysfunction was featured by lower ATP content and elevated levels of lactate, branched-chain amino acids and reactive oxidative species. Mechanistically, inhibitory YAP-phosphorylation was enhanced, which was associated with attenuated binding of transcription factor TEAD1. Numerous suppressed mitochondrial genes were identified as YAP-targets. Conclusion: Hippo signaling activation mediates mitochondrial damage by repressing mitochondrial genes, which causally promotes the development of DCM. The Hippo pathway therefore represents a therapeutic target against mitochondrial dysfunction in cardiomyopathy., Competing Interests: Competing Interests: The authors have declared that no competing interest exists., (© The author(s).)

Background: Arginase I, encoded by the ARG1 gene, is an enzyme that catalyzes the conversion of arginine to ornithine in the urea cycle; mutations in this gene has recently been reported to be associated with dilated cardiomyopathy (DCM) in Pakistan. The present study aimed to investigate the relationship between ARG1 gene mutations and DCM in the Han Chinese population. Methods: A total of 488 DCM cases and 924 matched-healthy controls were recruited. All subjects were genotyped for 12 tag single nucleotide polymorphisms (SNPs) within the ARG1 gene. Genetic association studies, including SNP and haplotype analyses, were performed. Further analyses were conducted to examine the correlations between the associated SNPs and specific clinical characteristics. Results: Only the rs2781666 and rs2781667 loci in the ARG1 gene were found to be significantly associated with DCM compared to the healthy controls. The risk of DCM at both of these loci for T allele carriers was ∼1.42-fold higher than that for carriers of the alternative alleles. There were significant differences in end-diastolic interventricular septal diameter, end-diastolic left ventricular posterior wall diameter, left ventricular end-diastolic diameter, left ventricular end-systolic diameter, and left ventricular ejection fraction among the genotype distributions of both SNPs. Furthermore, we found that the T alleles at the rs2781666 and rs2781667 loci were significantly associated with DCM in gender subgroups and the subgroup of patients <58 years of age. The haplotype T-T (rs2781666-rs2781667) also showed a significant association with DCM. Conclusion: Our results support the hypothesis that alleles and haplotypes of the ARG1 gene are significantly involved in the etiology of DCM in the Han Chinese population, but further research is necessary to elucidate the mechanism governing this association.

Aim: The present study aimed to investigate the role of TAB2 gene polymorphisms in dilated cardiomyopathy (DCM) susceptibility and prognosis in a Chinese population. Materials & methods: A total of 343 DCM patients and 451 controls were enrolled and had their blood genotyped. Survival analysis was evaluated with Kaplan-Meier curves and Cox regression analysis. Results: G carriers (AG/GG) and AG genotype of rs237028 had a higher DCM susceptibility as well as a worse DCM prognosis. Additionally, C carriers (CT/CC) of rs652921 and G carriers (TG/GG) of rs521845 had a higher DCM risk and CC homozygote of rs652921 had a worse DCM prognosis. These associations were still significant after adjustment for the Bonferroni correction. Conclusion: TAB2 gene polymorphisms were associated with DCM susceptibility and prognosis in the Chinese population.

Dilated Cardiomyopathy (DCM) and cardiac conduction disease (CCD) are two kinds if diseases that can induce heart failure, syncope and even sudden cardiac death (SCD). DCM patients can experience CCD at the same time. In recent research, some disease-causing genes and variants have been identified in patients with DCM and CCD, such as Alpha-Actinin-2 and TNNI3 Interacting Kinase (TNNI3K). In this study, we employed whole-exome sequencing (WES) to explore the potential causative genes in a Chinese family with DCM and CCD. A novel splice site mutation (c.333 + 2 T > C) of TNNI3K was identified and co-segregated with the affected family members. This novel mutation was also absent in 200 healthy local controls and predicted to be disease-causing by Mutationtaster. The splice site mutation (c.333 + 2 T > C) may result in a premature stop codon in exon 4 of the TNNI3K gene and can induce nonsense-mediated mRNA decay. Real-time qPCR also confirmed that the level of TNNI3K mRNA expression was decreased significantly compared with the controls, which may lead to myocardial structural disorder and arrhythmia. In this study we reported the third novel mutation of TNNI3K in DCM and CCD patients which further supported the important role of TNNI3K in heart development and expanded the spectrum of TNNI3K mutations. The results may contribute to the genetic diagnosis and counseling of families with DCM and CCD., (Copyright © 2018 Elsevier B.V. All rights reserved.)

Background: Galectin-3 plays an important role in modulating cardiac inflammation and fibrosis. It also takes part in the pathways underlying cardiac remodeling. Therefore, LGALS3 gene, encoding galectin-3 protein, is a promising candidate for the genetic study of dilated cardiomyopathy (DCM). To date, there has been no research evaluating the association between LGALS3 gene polymorphisms and the susceptibility and prognosis of DCM., Methods and Results: Genotyping of 4 single nucleotide polymorphisms (SNPs) in the LGALS3 gene, which were reported to be functional in the literature, was performed in 279 unrelated clinically diagnosed DCM patients and 363 apparently healthy controls from Northern Han Chinese population using iPLEX SNP Genotyping analysis on a Sequenom MassARRAY System. The frequency of G allelic polymorphism of rs1009977 and the C allelic polymorphism of rs4652 were lower in DCM patients (OR=0.77, 95% CI [0.60-0.99], P=0.045; OR=0.79, 95% CI [0.63-0.99], P=0.042, respectively). The minor variants of rs1009977 and rs4652 were associated with low susceptibility of DCM under additive genetic models (P=0.045 and P=0.040, respectively). The AA genotype of both rs2274273 and rs4644 was associated with lower left ventricular ejection fraction (recessive model, P=0.018 for both; additive model, P=0.039 for both). The G variant of rs1009977 was related with lower serum galectin-3 level in DCM patients under three genetic models (additive model, P=0.020, dominant model, P=0.020, recessive model, P=0.037). The A variant of both rs2274273 and rs4644 was associated with lower level of galectin-3 in DCM patients under additive model (P=0.032 for both) and dominant model (P=0.012 for both). None of the 4 SNPs was associated with the cardiovascular or all-cause death rate of DCM. In Conclusion, LGALS3 gene polymorphisms might be associated with the susceptibility of DCM in a Northern Han Chinese population., (Copyright © 2017 Elsevier B.V. All rights reserved.)

Aim: Accumulating data showed that IL-27 polymorphisms are linked to the susceptibility of some autoimmune diseases. We assessed whether there was an association between two single nucleotide polymorphisms (SNPs) of IL-27 gene and dilated cardiomyopathy (DCM)., Materials & Methods: Two SNPs (rs153109 and rs17855750) of IL-27 gene were genotyped by PCR-restriction fragment length polymorphism in 261 DCM patients and 303 unrelated healthy subjects in Chinese Han population., Results: Compared with controls, our results showed that SNP rs153109 displayed significant associations with DCM in Chinese Han population, whereas no differences in genotype or allele frequencies were found between DCM patients and controls at SNP rs17855750., Conclusion: Our study showed that, for the first time, the association of the IL-27 gene SNP with the patients with DCM.

Aims: Chronic heart failure with reduced ejection fraction (CHF-REF) remains a major public health problem with high morbidity and mortality, but the data on current treatment status and long-term prognosis in China were still missing., Methods: Among prospectively recruited 2368 patients with CHF-REF in 10 hospitals, 2154 patients provided complete followed data. Two aetiology subgroups (dilated cardiomyopathy, DCM and ischaemic cardiomyopathy, ICM) were classified. Clinical data and long-term prognosis were analysed., Results: After a median follow-up of 52 months, 850 (39.46%) patients died, of whom 302 (35.53%) were sudden cardiac death (SCD). Unadjusted rates of all-cause mortality and SCD were higher in DCM than those in ICM (p<0.001 for both modes of death), but mortalities were comparable after adjustment for co-variables (p=0.387 and p=0.483 respectively). ACEIs/ARBs, aldosterone receptor antagonists, β-blockers and diuretics were dominant prescribed drugs with the prescription rates of 65.97%, 74.61%, 68.29% and 74.37% respectively. Multivariable analysis identified co-morbidities (eg, hypertension), NHYA class, ventricular tachycardia/fibrillation (VT/VF), QRS duration, left ventricular EF and creatinine as independent predictors of mortalities, whereas ACEIs/ARB, β-blockers and statins were associated with better prognosis. Survived from sustained VT/VF episodes had the highest predictive value for SCD (HR, 4.230; 95% CI, 2.500-7.157; p<0.001). The predictors for mortalities in DCM and ICM were different., Conclusions: Patients with CHF-REF had a poor prognosis in China despite being under current standard therapies, especially patients with DCM. Predictors for all-cause mortality and SCD might be identified for evaluating the prognosis of these patients., (Copyright © 2014. Published by Elsevier B.V.)