ABSTRACT
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.
ABSTRACT
Left ventricular overlapping operation was applied to a woman with cardiac sarcoidosis who presented with cardiopulmonary arrest. She did not have any particular history, with minimal risk factors for atherosclerosis. By-stander cardiopulmonary resuscitation delivered by her husband saved her life. Acute coronary syndrome was denied by emergency coronary arteriography. However, left vetriculography revealed broad dyskinetic area inconsistent with coronary distribution. Those findings raised a high suspicion of cardiac sarcoidosis, although this was unconfirmed. Broad ventricular aneurysm and a history of cardiac arrest and congestive heart failure prompted us to operate on her. Left ventricular overlapping operation was applied followed by ICD implantation and steroid induction. The pathologic examination of the ventricular wall showed noncaseous epithelioid granulomas and polynuclear giant cells, which are consistent with cardiac sarcoidosis. She has been leading a healthy daily life without signs of heart failure for one and a half years after discharge. Lesions of cardiac sarcoidosis have a broad spectrum from narrow localized to wide generalized aneurysm. Appropriate surgical strategy should be performed according to the location and the extent of the lesion. Left ventricular overlapping operation is among the alternatives.
ABSTRACT
Sudden cardiac death accounts for approximately half of all cardiovascular mortality in the industrialized countries and ventricular tachyarrhythmia is the most common mechanism for this event. Implantable cardioverter-defibrillator (ICD) has been effectively used for prevention of sudden cardiac death in patients with life-threatening ventricular tachyarrhythmias since 1980. Clinical experience with ICD device now exceeds 100,000 implants worldwide and the number of implantation is increasing. In Korea, there is also increasing trend of ICD implantation. The authors report the initial experience of of ICD implantation in 6 patients who had high risk of sudden cardiac death.
Subject(s)
Humans , Death, Sudden, Cardiac , Defibrillators, Implantable , Developed Countries , Korea , Mortality , TachycardiaABSTRACT
The long QT syndrome is believed to result from abnormalities of cardiac sympathetic innervation and of myocardial repolarization. The therapeutic modalities for patients with ventricular arrhythmias due to the long QT syndrome include beta blocker, cardiac sympathetic denervation, pacemaker and ICD implantation. Recently, we underwent transvenous ICD implantation in a patient with this syndrome who had recurrent syncopal episodes due to rapid polymorphic ventricular tachycardia and strong family history of sudden death.
Subject(s)
Humans , Arrhythmias, Cardiac , Death, Sudden , Long QT Syndrome , Sympathectomy , Syncope , Tachycardia, VentricularABSTRACT
The long QT syndrome is believed to result from abnormalities of cardiac sympathetic innervation and of myocardial repolarization. The therapeutic modalities for patients with ventricular arrhythmias due to the long QT syndrome include beta blocker, cardiac sympathetic denervation, pacemaker and ICD implantation. Recently, we underwent transvenous ICD implantation in a patient with this syndrome who had recurrent syncopal episodes due to rapid polymorphic ventricular tachycardia and strong family history of sudden death.