扩张型心肌病
中文名称
通路描述
扩张型心肌病(DCM)是一种以左心室或双心室扩大和收缩功能受损为特征的心肌病,导致进行性心力衰竭和从心室心律失常引起的猝死。已发现25-35%的DCM患者呈遗传性形式(“家族性”DCM),遗传基因缺陷是“家族性”DCM的重要原因。病理生理可分为两类:力生成缺陷和力传递缺陷。在无法确定潜在病理的情况下,患者被诊断为“特发性”DCM。关于“特发性”DCM病因的当前假设集中在由肠道病毒引起的心肌炎和随后的自身免疫性心肌损害。检测到的β1-肾上腺素能受体(β1AR)抗体在大量“特发性”DCM患者中检出,可能增加细胞内cAMP和细胞内钙离子浓度,这通常导致心脏暂时超功能,随后出现心脏功能下降和心力衰竭。
英文描述
Dilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac death from ventricular arrhythmia. Genetically inherited forms of DCM ("familial" DCM) have been identified in 25-35% of patients presenting with this disease, and the inherited gene defects are an important cause of "familial" DCM. The pathophysiology may be separated into two categories: defects in force generation and defects in force transmission. In cases where an underlying pathology cannot be identified, the patient is diagnosed with an "idiopathic" DCM. Current hypotheses regarding causes of "idiopathic" DCM focus on myocarditis induced by enterovirus and subsequent autoimmune myocardium impairments. Antibodies to the beta1-adrenergic receptor (beta1AR), which are detected in a substantial number of patients with "idiopathic" DCM, may increase the concentration of intracellular cAMP and intracellular Ca2+, a condition often leading to a transient hyper-performance of the heart followed by depressed heart function and heart failure.
所含基因
105 个基因
ACTB
ACTC1
ACTG1
ADCY1
ADCY2
ADCY3
ADCY4
ADCY5
ADCY6
ADCY7
ADCY8
ADCY9
ADRB1
AGT
ATP2A1
ATP2A2
ATP2A3
CACNA1C
CACNA1D
CACNA1F
CACNA1S
CACNA2D1
CACNA2D2
CACNA2D3
CACNA2D4
CACNB1
CACNB2
CACNB3
CACNB4
CACNG1
CACNG2
CACNG3
CACNG4
CACNG5
CACNG6
CACNG7
CACNG8
CAV3
DAG1
DES
DMD
DTNA
EMD
GNAS
IGF1
ITGA1
ITGA10
ITGA11
ITGA2
ITGA2B
ITGA3
ITGA4
ITGA5
ITGA6
ITGA7
ITGA8
ITGA9
ITGAV
ITGB1
ITGB3
ITGB4
ITGB5
ITGB6
ITGB7
ITGB8
LAMA1
LAMA2
LMNA
LOC102723407
MYBPC3
MYH6
MYH7
MYL2
MYL3
NOS1
PLN
PRKACA
PRKACB
PRKACG
RYR2
SGCA
SGCB
SGCD
SGCE
SGCG
SGCZ
SLC8A1
SLC8A2
SLC8A3
SNTA1
SNTB1
SNTB2
SSPN
TGFB1
TGFB2
TGFB3
TNF
TNNC1
TNNI3
TNNT2
TPM1
TPM2
TPM3
TPM4
TTN