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Polyneuropathy, organomegaly, endocrinopathy, M-protein, skin changes syndrome with dilated cardiomyopathy: A case report

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World Journal of Clinical Cases 2024年第3期12卷 601-606页

作者： Jia-Rong Li Lei-Yu Feng Jian-Wei Li Yu Liao Fei-Qi Liu Department of General Medicine Xiangtan Central HospitalXiangtan 411100Hunan ProvinceChina

BACKGROUND Polyneuropathy,organomegaly,endocrinopathy,M-protein,skin changes(POEMS)syndrome is a rare paraneoplastic syndrome that encompass multiple *** 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 *** organomegaly consists of hepatosplenomegaly and/or lym-phadenopathy;cases of cardiomyopathy are *** are often delayed because of the atypical nature of the syndrome,exposing patients to possibly severe ***,identifying atypical symptoms can improve the prognosis and quality of life among POEMS syndrome *** and *** When patients with cardiomyopathy have systemic manifestations such as numb limbs and darkening skin,the POEMS syndrome is the most possible diagnosis.

关键词： Polyneuropathy organomegaly endocrinopathy M-protein skin changes syndrome dilated cardiomyopathy Lenalidomide Dexamethasone Case report

Bioinformatics Analysis of the Relationship between dilated cardiomyopathy and Chronic Heart Failure

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Journal of Biosciences and Medicines 2024年第8期12卷 333-346页

作者： Lanqing Yu Haidong Zhou Bailu Deng Jiaochang Wei Mei Zhang Chongyao Xu Guiyun Wei Junxiu Zhou Jun Huang Qi Lu Shaowu Ye Graduate School Youjiang Medical University for Nationalities Baise China Clinical Medical College Affiliated Hospital of Youjiang Medical University for Nationalities Baise China Department of Internal Medicine The Peoples Hospital of Wuzhou Wuzhou China Pharmaceutical College Guangxi Medical University Nanning China Department of Pharmacy Guangxi Zhuang Autonomous Region Maternal and Child Health Hospital Nanning China Department of Pharmacy Baise Maternal and Child Hospital Baise China Orthopedic Trauma Napo Peoples Hospital Baise China Department of Internal Medicine Wuzhou Gongren Hospital Wuzhou China

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.

关键词： dilated cardiomyopathy Chronic Heart Failure Bioinformatics Analysis Differentially Expressed Genes

Construction of A Prediction Model for Atrial Fibrillation in Patients with dilated cardiomyopathy and Heart Failure

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Journal of Clinical and Nursing Research 2024年第1期8卷 228-232页

作者： Kaizheng Liu Chengjie Liu Department of Cardiac Surgery The First Affiliated HospitalSun Yat-sen UniversityGuangzhou 510080Guangdong ProvinceChina Foshan Fosun Chancheng Hospital Foshan 528000Guangdong ProvinceChina

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 *** occurrence of atrial fibrillation(AF)is closely related to the progression and prognosis of the *** 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 *** 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 *** 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 *** 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.

关键词： dilated cardiomyopathy Heart failure Atrial fibrillation Prediction model

SLM2 Is A Novel Cardiac Splicing Factor Involved in Heart Failure due to dilated cardiomyopathy

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Genomics, Proteomics & Bioinformatics 2022年第1期20卷 129-146页

作者： Jes-Niels Boeckel Maximilian Mobius-Winkler Marion Muller Sabine Rebs Nicole Eger Laura Schoppe Rewati Tappu Karoline E.Kokot Jasmin M.Kneuer Susanne Gaul Diana M.Bordalo Alan Lai Jan Haas Mahsa Ghanbari Philipp Drewe-Boss Martin Liss Hugo A.Katus Uwe Ohler Michael Gotthardt Ulrich Laufs Katrin Streckfuss-Bomeke Benjamin Meder Department of Cardiology Angiology and PneumologyUniversity Hospital HeidelbergD-69120 HeidelbergGermany Klinik und Poliklinik fur Kardiologie Universitatskrankenhaus LeipzigD-04103 LeipzigGermany German Center for Cardiovascular Research(DZHK) Partner site HeidelbergD-69120 HeidelbergGermany Clinic for General and Interventional Cardiology/Angiology Herz-und Diabeteszentrum NRWRuhr-Universitat BochumD-32545 Bad OeynhausenGermany Department of Cardiology and Pneumology University HospitalGeorg-August University GoettingenD-37075 GoettingenGermany German Center for Cardiovascular Research(DZHK) Partner site GoettingenD-37075 GoettingenGermany Berlin Institute for Medical Systems Biology Max Delbruck Center for Molecular Medicine in the Helmholtz AssociationD-10115 BerlinGermany Institute of Biology Humboldt Universitat zu BerlinD-10099 BerlinGermany Neuromuscular and Cardiovascular Cell Biology Max Delbruck Center for Molecular Medicine in the Helmholtz AssociationD-13092 BerlinGermany German Center for Cardiovascular Research(DZHK) Partner site BerlinD-10117 BerlinGermany Stanford Genome Technology Center Department of GeneticsStanford Medical SchoolPalo AltoCA 94304USA

Alternative mRNA splicing is a fundamental process to increase the versatility of the *** humans,cardiac mRNA splicing is involved in the pathophysiology of heart *** in the splicing factor RNA binding motif protein 20(RBM20) cause severe forms of *** identify novel cardiomyopathy-associated splicing factors,RNA-seq and tissue-enrichment analyses were performed,which identified up-regulated expression of Sam68-Like mammalian protein 2(SLM2) in the left ventricle of dilated cardiomyopathy(DCM) *** the human heart,SLM2 binds to important transcripts of sarcomere constituents,such as those encoding myosin light chain2(MYL2),troponin 13(TNNI3),troponin T2(TNNT2),tropomyosin 1/2(TPM1/2),and titin(TTN).Mechanistically,SLM2 mediates intron retention,prevents exon exclusion,and thereby mediates alternative splicing of the mRNA regions encoding the variable proline-,glutamate-,valine-,and lysine-rich(PEVK) domain and another part of the I-band region of *** summary,SLM2 is a novel cardiac splicing regulator with essential functions for maintaining cardiomyocyte integrity by binding to and processing the mRNAs of essential cardiac constituents such as titin.

关键词： Splicing Titin dilated cardiomyopathy KHDRBS3 SLM2

A Mitochondrial DNA A8701G Mutation Associated with Maternally Inherited Hypertension and dilated cardiomyopathy in a Chinese Pedigree of a Consanguineous Marriage

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Chinese Medical Journal 2016年第3期129卷 259-266页

作者： Ye Zhu Xiang Gu Chao Xu Department of Cardiology Northern People's Hospital Medical College of Yangzhou University Yangzhou Jiangsu 225001 China Department of Biostatistics and Bioinformatics Center for Bioinformatics and Genomics School of Public Health and Tropical Medicine Tulane University New Orleans LA 70112 USA

Background： Cardiovascular diseases, including dilated cardiomyopathy （DCM） and hypertension, are the leading cause of death *** role of mitochondrial DNA （mtDNA） in the pathogenesis of these diseases has not been completely *** this study, we evaluate whether A8701G mutation is associated with maternally inherited hypertension and DCM in a Chinese pedigree of a consanguineous ***： Fourteen subjects in a three-generation Han Chinese family with hypertension and DCM, in which consanguineous marriage was present in the parental generation, were *** divided all the family members into case （7 maternal members） and control group （7 nonmaternal members） for *** evaluations and sequence analysis ofmtDNA were obtained from all *** differences between maternal and nonmaternal members were tested to locate the disease-associated ***： The majority of the family members presented with a maternal inheritance of hypertension and *** analysis of mtDNA in this pedigree identified eight mtDNA *** the mutations identified, there was only one significant mutation： A8701G （P =0.005）, which is a homoplasmic mitochondrial missense mutation in all the matrilineal *** was no clear evidence for any synergistic effects between A8701G and other ***： A8701G mutation may act as an inherited risk factor for the matrilineal transmission of hypertension and DCM in conj unction with genetic disorders caused by consanguineous marriage.

关键词： dilated cardiomyopathy Hypertension Mitochondria Mitochondrial DNA Mutation

Developing a rat model of dilated cardiomyopathy with improved survival

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Journal of Zhejiang University-Science B(Biomedicine & Biotechnology) 2016年第12期17卷 975-983页

作者： Li-juan SHEN Shu LU Yong-hua ZHOU Lan LI Qing-min XING Yong-liang XU Wuxi Hospital of Traditional Chinese Medicine Wuxi Hospital Affiliated to Nanjing University of Chinese Medicine Jiangsu Institute of Parasitic Diseases Key Laboratory on Technology for Parasitic Disease Prevention and Control Ministry of Health Jiangsu Provincial Key Laboratory on Molecular Biology of Parasites Jiangsu Provincial Key Subject on Parasitic Diseases Department of Ultrasonography Wuxi Hospital of Traditional Chinese Medicine Wuxi Hospital Affiliated to Nanjing University of Chinese Medicine

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.

关键词： Doxorubicin dilated cardiomyopathy Animal model ^18FDG-PET

Prognostic value of free triiodothyronine in patients with dilated cardiomyopathy

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Chinese Medical Journal 2020年第18期133卷 2170-2176页

作者： Hong-Yan Zhao Ling Sun Ye-Qian Zhu Qiu-Shi Chen Wen-Wu Zhu Mohammad Bilaal Toorabally Xin-Guang Chen Feng-Xiang Zhang Section of Pacing and Electrophysiology Division of CardiologyThe First Affiliated Hospital of Nanjing Medical UniversityNanjingJiangsu 210029China Department of Cardiology The Affiliated Changzhou No.2 People's Hospital of Nanjing Medical UniversityChangzhouJiangsu 213003China Victoria Hospital CandosMauritius Department of Cardiology Qinghai Province HospitalXiningQinghai 810007China

Background:The association between free triiodothyronine(FT3)and long-term prognosis in dilated cardiomyopathy(DCM)patients has not been *** purpose of this study was to determine whether the level of FT3 could provide prognostic value in patients with ***:Data of consecutive patients diagnosed with DCM were collected from October 2009 to December ***3 was measured by *** biochemical markers,such as free thyroxin(FT4),thyroid-stimulating hormone,red blood cell,hemoglobin,blood urea nitrogen,and serum creatinine,were tested at the same ***-up was performed every 3 *** primary endpoint was all-cause *** analysis was used to evaluate the correlation of FT3 and other lab metrics with DCM patients’*** association of long-term mortality in DCM and FT3 was compared using Cox hazards ***:Data of 176 patients diagnosed with DCM were *** them,24 patients missed FT3 values and six patients were lost to ***,data of 146 patients were *** the median follow-up time of 79.9(53.5-159.6)months,nine patients lost,61 patients died(non-survival group),and 85 patients survived(survival group).FT3 was significantly lower in non-survival group than that in survival group(3.65±0.83 pmol/L vs.4.36±1.91 pmol/L;P=0.003).FT3 also showed a significantly positive correlation with red blood cell and hemoglobin,negatively correlated with age,blood urea nitrogen and serum creatinine(P<0.05),*** in the group of lower FT3 levels(FT3≤3.49 pmol/L)suffered from a higher risk of all-cause mortality(P for log-rank=0.001).In multivariate Cox regression analysis,FT3 level was significantly associated with all-cause mortality(hazard ratio:0.70,95%confidence interval 0.52-0.95,P for trend=0.021).Conclusion:Low levels of FT3 were associated with increased all-cause mortality in patients with DCM.

关键词： dilated cardiomyopathy Free triiodothyronine All-cause mortality

BMAL1 regulates mitochondrial fission and mitophagy through mitochondrial protein BNIP3 and is critical in the development of dilated cardiomyopathy

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Protein & Cell 2020年第9期11卷 661-679页

作者： Ermin Li Xiuya Li Jie Huang Chen Xu Qianqian Liang Kehan Ren Aobing Bai Chao Lu Ruizhe Qian Ning Sun Department of Physiology and Pathophysiology State Key Laboratory of Medical NeurobiologySchool of Basic Medical SciencesFudan UniversityShanghai 200032China Department of Pathology School of Basic Medical SciencesFudan UniversityShanghai 200032China Shanghai Key Lab of Birth Defect Children's Hospital of Fudan UniversityShanghai 201102China Shanghai Key Laboratory of Clinical Geriatric Medicine Fudan UniversityShanghai 200032China Research Center on Aging and Medicine Fudan UniversityShanghai 200032China

Dysregulation of circadian rhythms associates with cardiovascular *** is known that deletion of the core circadian gene Bma/1 in mice causes dilated ***,the biological rhythm regulation system in mouse is very different from that of *** BMAL1 plays a role in regulating human heart function remains *** we generated a BMAL1 knockout human embryonic stem cell(hESC)model and further derived human BMAL1 deficient *** show that BMAL1 deficient hESC-derived cardiomyocytes exhibited typical phenotypes of dilated cardiomyopathy including attenuated contractility,cal-cium dysregulation,and disorganized *** addition,mitochondrial fission and mitophagy were suppressed in BMAL1 deficient hESC-cardiomyocytes,which resulted in significantly attenuated mitochondrial oxidative phosphorylation and compromised cardiomy-ocyte *** also found that BMAL1 binds to the E-box element in the promoter region of BNIP3 gene and specifically controls BNIP3 protein ***1 knockout directly reduced BNIP3 protein level,causing compromised mitophagy and mitochondria dysfunction and thereby leading to compromised cardiomyocyte *** data indicated that the core circadian gene S/VMLf is critical for normal mitochondria activities and cardiac *** rhythm disruption may directly link to compromised heart function and dilated cardiomyopathy in humans.

关键词： circadian gene BMAL1 human embryonic stem cells cell differentiation cardiomyocytes dilated cardiomyopathy mitochondria

R25G mutation in exon 1 of LMNA gene is associated with dilated cardiomyopathy and limb-girdle muscular dystrophy 1B

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Chinese Medical Journal 2009年第23期122卷 2840-2845页

作者： YUAN Wo-liang HUANG Chun-yan WANG Jing-feng XIE Shuang-lun NIE Ru-qiong LIU Ying-mei LIU Pin-ming ZHOU Shu-xian CHEN Su-qin HUANG Wei-jun Department of Cardiovascular Medicine Second AffiliatedHospital of Sun Yat-sen University Guangzhou Guangdong510120 China Department of Genetics Sun Yat-sen University GuangzhouGuangdong 510089 China

Background Mutations of the LMNA gene encoding lamin A and C are associated with dilated cardiomyopathy （DCM）, conduction system defects and skeletal muscle dystrophy. Here we report a family with a mutation of the LMNA gene to identify the relationship between genotype and phenotype. Methods All 30 members of the family underwent clinical and genetic evaluation. A mutation analysis of the LMNA gene was performed. All of the 12 exons of LMNA gene were extended with polymerase chain reaction （PCR） and the PCR products were screened for gene mutation by direct sequencing. Results Ten members of the family had limb-girdle muscular dystrophy （LGMD） and 6 are still alive. Two patients suffered from DCM. Cardiac arrhythmias included atrioventricular block and atrial fibrillation; sudden death occurred in 2 patients. The pattern of inheritance was autosomal dominant. Mutation c.73C〉G （R25G） in exon 1 encoding the globular domains was confirmed in all of the affected members, resulting in the conversion of arginine （Arg） to glycine （Gly）. Conclusions The mutation R25G in exon 1 of LMNA gene we reported here in a Chinese family had a phenotype of malignant arrhythmia and mild LGMD, suggesting that patients with familial DCM, conduction system defects and skeletal muscle dystrophy should be screened by genetic testing for the LMNA gene.

关键词： lamin A/C dilated cardiomyopathy limb-girdle muscular dystrophy mutation sudden death