Role of Modifier Genes in Idiopathic Cardiomyopathies
نویسندگان
چکیده
Cardiomyopathies are chronic diseases of heart muscle, in which the muscle is abnormally enlarged, thickened, and/or stiffened (1). According to American Heart Association, “Cardiomyopathies are a heterogeneous group of diseases of the myocardium associated with mechanical and/or electrical dysfunction that usually (but not invariably) exhibit inappropriate ventricular hypertrophy or dilatation and are due to a variety of causes that frequently are genetic. Cardiomyopathies either are confined to the heart or are part of generalized systemic disorders, often leading to cardiovascular death or progressive heart failure related disability” (1). Within this broad definition, WHO (1995) and International Society & Federation of Cardiology has classified cardiomyopathies into four types: Dilated cardiomyopathy (DCM) Hypertrophic cardiomyopathy (HCM) Restricted cardiomyopathy (RCM) Arrhythmogenic right Ventricular cardiomyopathy
منابع مشابه
Familial dilated cardiomyopathy associated with congenital defects in the setting of a novel VCL mutation (Lys815Arg) in conjunction with a known MYPBC3 variant.
Idiopathic dilated cardiomyopathy (DCM) is a primary myocardial disorder characterized by ventricular chamber enlargement and systolic dysfunction. Twenty to fifty percent of idiopathic DCM cases are thought to have a genetic cause. Of more than 30 genes known to be associated with DCM, rare variants in the VCL and MYBPC3 genes have been reported in several cases of DCM. In this report, we desc...
متن کاملLong non-coding RNAs and their significance in human diseases
Protein-coding genes account for only a small fraction of the human genome and most of the genomic sequences are transcriptionally silent, but recent observations indicate significant functional elements, including non-coding protein transcripts in the human genome. Long non-coding RNAs (lncRNAs) have been defined as transcripts of >200 nucleotides without protein-coding capacity that perform t...
متن کاملP-207: Study of Relationship among Six SNPs in PRM1, PRM2 and TNP2 Genes and Idiopathic Azoospermia in Iranian Infertile Men
Background: Histones are replaced by protamines to condensate and package DNA into the sperm head during mammalian spermatogenesis. Protamine genes defects have been reported to cause sperm DNA damage and male infertility. In this study relationship among some protamines genes family SNPs include PRM1 (C321A), PRM2 (C248T) and TNP2 (T1019C), (G1272C), (G del in 1036 and 1046 bp) were studied in...
متن کاملDilated Cardiomyopathy Hypertrophic Cardiomyopathy Arrhythmogenic right ventricular dysplasia Restrictive Cardiomyopathy Idiopathic Secondary Amyloidosis2 Loeffler's eosinophilic endocardial fibrosis2 Tropical endocardial fibrosis (Davies disease) Unclassified cardiomyopathies Mitochondrial cardiomyopathy Fibroelastosis Noncompacted myocardium Systolic dysfunction with minimal dilatation3
Definition and Classification The cardiomyopathies are a diverse group of myocardial diseases that are characterized by chronic ventricular dysfunction. The clinical classification of cardiomyopathy is based on hemodynamic and echocardiographic abnormalities, and consists of dilated cardiomyopathy, hypertrophic cardiomyopathy, and restrictive cardiomyopathy. Recently, arrhythmogenic right ventr...
متن کاملO-47: Molecular Study of Internal ApoptoticPathway BAX and BCL2 Genes and MitochondrialGenome in Idiopathic Repeated PregnancyLoss
Background: Pregnancy is the process from the fertilized ovum to the fetus with capability of extra uterine survival. Pregnancy loss is the most common complication of pregnancies. Advances in the detection of early pregnancy revealed that about 70% of human conceptions fail to achieve viability but clinically recognized pregnancies terminate as a miscarriage in about 15% of cases. About 1 in 3...
متن کامل