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OBJECTIVE@#Mutations in LIM domain binding 3 (LDB3) gene cause idiopathic dilated cardiomyopathy (IDCM), a structural heart disease with a complicated genetic background. However, the association of polymorphisms in the LDB3 gene with susceptibility to IDCM in Chinese populations remains unexplored as dose the impact on clinical presentation.@*METHODS@#We sequenced all exons and the adjacent part of introns of the LDB3 gene in 159 Chinese Han IDCM patients and 247 healthy controls. Then we detected the distribution of polymorphisms in the LDB3 gene in all participants and assessed their associations with risk of IDCM. Additionally, we conducted a stratified genotype-phenotype correlation analysis.@*RESULTS@#The A allele of rs4468255 was significantly associated with IDCM (P<0.01). The rs4468255, rs11812601, rs56165849, and rs3740346 were also associated with diastolic blood pressure (DBP) and left ventricular ejection fraction (LVEF) (P<0.05). Notably, a higher frequency of rs4468255 polymorphism was observed in implantable cardioverter defibrillator (ICD) recipients under a recessive model (P<0.01), whereas the significant association disappeared after adjusting for potential confounders. However, in the dominant model, notable correlations could only be observed after adjusting for multi parameters.@*CONCLUSIONS@#The rs4468255 was significantly correlated with IDCM of Chinese Han population. A allele of rs4468255 is higher in IDCM patients with ICD implantation, suggesting the influence of genetic background in the generation of this response. In addition, rs11812601, rs56165849, and rs3740346 in LDB3 show association with brain natriuretic peptide, DBP, and LVEF levels in patients with IDCM but did not show any association with IDCM susceptibility.
Subject(s)
Adult , Aged , Female , Humans , Male , Middle Aged , Adaptor Proteins, Signal Transducing/genetics , Alleles , Asian People , Cardiomyopathy, Dilated/surgery , China/epidemiology , Defibrillators, Implantable , Exons , Genetic Association Studies , Genetic Predisposition to Disease , Genotype , LIM Domain Proteins/genetics , Linkage Disequilibrium , Mutation , Polymorphism, Genetic , Sequence Analysis, DNAABSTRACT
Objective: Mutations in LIM domain binding 3 (LDB3) gene cause idiopathic dilated cardiomyopathy (IDCM), a structural heart disease with a complicated genetic background. However, the association of polymorphisms in the LDB3 gene with susceptibility to IDCM in Chinese populations remains unexplored as dose the impact on clinical presentation. Methods: We sequenced all exons and the adjacent part of introns of the LDB3 gene in 159 Chinese Han IDCM patients and 247 healthy controls. Then we detected the distribution of polymorphisms in the LDB3 gene in all participants and assessed their associations with risk of IDCM. Additionally, we conducted a stratified genotypephenotype correlation analysis. Results: The A allele of rs4468255 was significantly associated with IDCM (P<0.01). The rs4468255, rs11812601, rs56165849, and rs3740346 were also associated with diastolic blood pressure (DBP) and left ventricular ejection fraction (LVEF) (P<0.05). Notably, a higher frequency of rs4468255 polymorphism was observed in implantable cardioverter defibrillator (ICD) recipients under a recessive model (P<0.01), whereas the significant association disappeared after adjusting for potential confounders. However, in the dominant model, notable correlations could only be observed after adjusting for multi parameters. Conclusions: The rs4468255 was significantly correlated with IDCM of Chinese Han population. A allele of rs4468255 is higher in IDCM patients with ICD implantation, suggesting the influence of genetic background in the generation of this response. In addition, rs11812601, rs56165849, and rs3740346 in LDB3 show association with brain natriuretic peptide, DBP, and LVEF levels in patients with IDCM but did not show any association with IDCM susceptibility.
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Objective To evaluate the impact of carvedilol and metoprolol on left ventricular (LV)dyssynchrony in idiopathic dilated cardiomyopathy(IDC).Methods In this study,we randomly assigned 65 IDC patients from January 2009 to June 2011 to re-ceive carvedilol or metoprolol succinate.All patieats were divided in to carvedilol group(n=33)and metoprolol group(n=32)Echo-cardiographic measurements and N-terminal pro-brain natriuretic peptide levels were obtained at baseline and 6 month after thera-py.Then long-term follow up the survival rate of patients were observed.Results In carvedilol group,reduction in LVEDS and in-crease in LVEF was higher compared to metoprolol group.Also improvement in LV dyssynchrony achieved and survival rate with carvedilol was higher than metoprolol.However,Improvements in LV mechanical dyssynchrony was similar in two groups.Im-provements in LV mechanical dyssynchrony achived with both drugs were accompanied by reduction in NT-pro-BNP levels in both carvedilol and metoprolol groups(P >0.05).Conclusion Carvedilol is an effective drug improves the intraventricular dyssynchro-nyfor for IDC patients with left ventricular dyssynchrony,and could increasea the survival rate.
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Introducción. La cardiomiopatía dilatada idiopática es la forma más común de cardiomiopatía en niños; sin embargo, ocasionalmente son identificadas causas potencialmente reversibles. Entre estas existe un grupo de pacientes con manifestaciones de insuficiencia cardiaca y taquicardia persistente que representan una forma de cardiomiopatía no familiar adquirida conocida como cardiomiopatía inducida por taquicardia o taquicardiomiopatía, que es reversible con el tratamiento efectivo de la taquicardia. Estos pacientes pueden ser mal diagnosticados y tratados de forma inapropiada. El diagnóstico frecuentemente es tardío, por lo que debe sospecharse en pacientes con insuficiencia cardiaca y taquicardia persistente sin causa aparente. Casos clínicos. Se describen seis casos de pacientes pediátricos de 6 a 16 años de edad (media 12 ± 4 años) que se presentaron con manifestaciones clínicas de insuficiencia cardiaca. Tuvieron seguimiento por una forma de cardiomiopatía dilatada en los que se documentaron diferentes mecanismos de taquiarritmia persistente como la causa. El tratamiento apropiado -mediante ablación con catéter- condujo a la recuperación de la función ventricular. Conclusiones. Es importante el reconocimiento de la cardiomiopatía inducida por taquiarritmia en pediatría. También es necesario un diagnóstico oportuno así como un tratamiento eficaz, ya que la cardiomiopatía inducida por taquicardia es una causa reversible de insuficiencia cardiaca.
Background. Idiopathic dilated cardiomyopathy is the most common form of cardiomyopathy in children; however, potentially reversible causes may occasionally be identified. Among these a group of patients with symptoms of congestive heart failure and persistent tachycardia representing a form of nonfamilial acquired cardiomyopathy known as tachycardia-induced cardiomyopathy or tachycardiomyopathy. This is a reversible condition with effective treatment of tachycardia. These patients may be misdiagnosed, potentially leading to inappropriate treatment. Diagnosis is often late and always should be suspected in patients with congestive heart failure and unexplained persistent tachycardia. Case reports. We describe six pediatric patients (mean age 12 ±4 years old, range 6-16 years). Patients presented with clinical manifestations of heart failure followed by dilated cardiomyopathy. Different mechanisms of persistent tachycardia were documented as the cause and total recovery was achieved of ventricular function after successful treatment of tachycardia by catheter ablation. Conclusions. The recognition of tachyarrhythmia-induced cardiomyopathy in pediatric patients is important. Opportune diagnosis and effective treatment are necessary because tachycardia-induced cardiomyopathy is a reversible cause of heart failure.
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Intravenous immunoglobulin (IVIG) therapy has been introduced to idiopathic dilated cardiomyopathy due to their antiviral and anti-inflammatory effects. But each study reported conflicting result and treatment regimen has not been clearly established. We experienced a case of 28-year-old woman with idiopathic dilated cardiomyopathy with severely depressed cardiac function. Its onset time was obvious within 1 month. Despite of conservative treatment of heart failure, sudden cardiac arrest was developed. We tried IVIG therapy, and her symptoms and cardiac function were improved after IVIG treatment.
Subject(s)
Adult , Female , Humans , Cardiomyopathy, Dilated , Death, Sudden, Cardiac , Heart Failure , Immunoglobulins , Immunoglobulins, IntravenousABSTRACT
Growth hormone receptor gene is expressed in the myocardium and growth hormone(GH) administration has been shown to increase cardiac insulin-like growth factor-I(IGF-1) contents. The cardiac myocyte express IGF-I receptors and IGF-I promotes cardiac hypertrophy. Furthermore GH therapy has been reported to have beneficial effects in the treatment of dilated cardiomyopathy in adults. We have studied the effect of short term growth hormone treatment in two cases of a 5 year-old girl and a 15 year-old boy presenting idiopathic dilated cardiomyopathy. Transthoracic echocardiography revealed that the left ventricular chamber was markedly dilated and the global left ventricular systolic function was severely reduced in both. Medical treatments such as inotropic agents, diuretics and angiotensin converting enzyme(ACE) inhibitor were tried but we could not attain remarkable improvement. Finally, we started growth hormone treatment (0.35 U/kg/week, Eutropin, LGCI, Korea) and after treatment for 3 months, we attained a remarkable hemodynamic improvement in the 5 year-old girl with remarkable IGF-I increase after GH treatment, but not in the 15 year-old boy without IGF-I increase. The treatment was safe without side effects. However, no beneficial effects on cardiac function or structure were detected at 6 months of post-treatment.
Subject(s)
Adolescent , Adult , Child, Preschool , Female , Humans , Male , Angiotensins , Cardiomegaly , Cardiomyopathy, Dilated , Diuretics , Echocardiography , Growth Hormone , Hemodynamics , Insulin-Like Growth Factor I , Myocardium , Myocytes, Cardiac , Receptor, IGF Type 1 , Receptors, SomatotropinABSTRACT
BACKGROUND: In order to evaluate the prevalence of enterovirus and cytomegalovirus infections to terminally failing hearts, the presence of enteroviral RNA and cytomegaloviral DNA was screened in the explanted hearts of transplantation recipients. METHODS: RNA and DNA extractions were performed from explanted failing hearts (N=22) and normal hearts (N=5). Reverse transcription-polymerase chain reaction (RT-PCR) of enterovirus and polymerase chain reaction (PCR) of cytomegalovirus were performed. In situ RT-PCR and in situ PCR were performed with positive nucleic acids of viruses. RESULTS: The positivity of enterovirus in failing hearts was 4.4% (1/22) and 0% (0/5) in normal hearts in nested RT-PCR. There was no significant difference in positivity of enteroviral RNA between failing and normal hearts. Nuclei of myocardium was stained in dark-violet color with in situ RT-PCR. The positivity of cytomegalovirus in failing hearts was 45% (10/22) and 40% (2/5) in nested PCR. There was no significant difference in positivity of cytomegaloviral DNA between failing and normal hearts. Nuclei of myocardium was stained in dark-violet color with in situ PCR. Positive chambers of cytomegalovirus were in decreasing tendency according to increasing patient's age. CONCLUSION: Enterovirus was very rarely observed in explanted terminally failing hearts and cytomegalovirus was frequently found both in explanted failing hearts and normal. These viruses have little direct causal relationship with the development of heart failure.
Subject(s)
Humans , Cardiomyopathy, Dilated , Cytomegalovirus Infections , Cytomegalovirus , DNA , Enterovirus , Heart Failure , Heart , Mass Screening , Myocardium , Nucleic Acids , Polymerase Chain Reaction , Prevalence , RNAABSTRACT
OBJECTIVE: In order to evaluate the prevalence of cytomegalovirus infection to terminally failing heart, cytomegaloviral DNA was detected in the explanted hearts of transplantation recipients. METHODS: DNA extractions were performed from explanted failing hearts(N=22) and normal hearts (N=5) and polymerase chain reactions(PCRs) were done for detection of late gene sequence coded pp150 phosphoprotein. The products were confirmed with electrophoresis on 1% agarose gel. In order to improve the sensitivity of detection in cytomegaloviral genome, nested PCRs were executed with the primers designed for the original 607 bp products. RESULTS: All patients had IgG anti-cytomegalovirus antibody and did not have IgM anti-cytomegalovirus antibody. Cytomegaloviral genomes in myocardium were detected by polymerase chain reaction. The 607bp products by PCRs were found in both explanted failing hearts(3 cases/22, 13.5%) and normal hearts(1 case/5, 20.0%). In nested PCRs, 186bp products were found in both failing hearts(LV 4/22, LA 3/20, RV 5/22, HA 0/17) and normal hearts(LV 2/5, LA 1/4, RV 1/5, RA 2/5). There was no significant change in the presence of cytomegaloviral DNA between failing and normal hearts. Total positivity of cytomegaloviral genome in explanted hearts was 44.4% according to nested PCR results. CONCLUSION: Cytomegalovirus was rarely observed in explanted hearts of terminal heart failure and nested PCR could enhance the sensitivity of cytomegaloviral genome detection. But cytomegalovirus might have no direct causal relationship in the development of terminal heart failure.
Subject(s)
Humans , Cardiomyopathy, Dilated , Cytomegalovirus Infections , Cytomegalovirus , DNA , Electrophoresis , Genome , Heart Failure , Heart , Immunoglobulin G , Immunoglobulin M , Myocardium , Polymerase Chain Reaction , Prevalence , SepharoseABSTRACT
PURPOSE--To analyze patients operated on in Brazil from May 1968 until June 1993. METHODS--Three patients were transplanted in the historical period of 1968 and 1969. In the modern period from 1984-1993, 380 transplants were performed in 379 patients. These patients were transplanted in 23 services in 20 hospitals. These services are in 12 cities of 11 states. The state with the larger number of patients was Säo Paulo with 239 transplants followed by Minas Gerais with 58. RESULTS--In this casuistry, the patients were predominantly male (81//) with age between 31 and 40 years (30//). The most frequent indication was idiopathic dilated cardiomyopathy (53.4//) followed by ischemic (26.8//) and with a special reference for the Chagas' etiology (11//). The results in 297 patients showed 48 immediate and 49 late deaths. The actuarial survival curve showed 64.7//and 47.4//respectively after one and five years. CONCLUSION--Important differences were observed in relation to the international casuistry but even so benefits were present when compared with medical treatment
Subject(s)
Humans , Male , Female , Adult , Middle Aged , Heart Transplantation/statistics & numerical data , Brazil/epidemiology , Cardiomyopathies/surgery , Cardiomyopathies/epidemiologyABSTRACT
Objective:Autoimmune mechanisms, including cellular and humoral immune, are likely to participate in the pathogenesis of at least a subgroup of idiopathic dilated cardiomyopathy(IDC), in which cellular immune-mediated one plays a more important role. Cytotoxic T lymphocyte associated antigen-4(CTLA-4) is the major negative regulatory factor of cellular immunity. This study was conducted to investigate the association of CTLA-4 gene promoter -318C/T polymorphism, exon 1 A/G polymorphism and 3′ untranslated region microsatellite polymorphism with susceptibility to IDC in Han Chinese.Methods:Polymerase chain reaction-restriction fragment length polymorphisms(PCR-RFLP) techniques were used to analyze the polymorphisms of CTLA-4 promoter -318, exon 1 A/G and 3′ untranslated region in the unrelated Han ethnic population in Heilongjiang Province(including 72 IDC patients and 100 normal controls). Serum sCTLA-4 was tested by ELISA. The relationship of CTLA-4 genotype and alleles frequencies with sCTLA-4 was evaluated by linear regression analysis.Results:Compared with controls, the frequencies of GG genotype(0.604 2 and 0.739 6, P=0.012) and the G allele(0.360 0 and 0.560 0, P=0.008) were significantly increased in patients with IDC. Increased serum sCTLA-4 was found in the IDC group compared with the controls[(1.87?1.06)?g/L vs (0.54?0.19)?g/L, P