Disorder "Dilated Cardiomyopathy"
Found 25 records
Disorder information
Disorder name:
Dilated Cardiomyopathy
Disoder ID:
OMIM entry:
Synonyms:
primary dilated cardiomyopathy,Congestive cardiomyopathy,Familial dilated cardiomyopathy,Idiopathic dilation cardiomyopathy
Definition:
Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis.
Modifier statisitcs
Record:
25
Gene:
11
Variant:
25
Reference:
7
Effect type:
Expressivity(24)
,Penetrance(1)
Modifier effect:
Risk factor(20)
,Altered severity(2)
,Altered LVEF level(1)
,Altered contractility and functional deterioration in heart failure(1)
,Altered incidence(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| TTN | TTN:c.106374+5C>A | Expressivity | Risk factor | Patients with TTNTV (3 of 13 [23.1%]) were more likely to experience cardiovascular death compared with those without TTNTV (39 of 516 [7.6%]) [adjusted hazard ratio, 6.88; 95% confidence interval, 2.04-23.20; P=0.002). | TTNtv might be a genetic modifier of HCM and confer an increased risk for cardiovascular death.more | more |
| TTN:c.106532-2A>G | Expressivity | Risk factor | Patients with TTNTV (3 of 13 [23.1%]) were more likely to experience cardiovascular death compared with those without TTNTV (39 of 516 [7.6%]) [adjusted hazard ratio, 6.88; 95% confidence interval, 2.04-23.20; P=0.002). | TTNtv might be a genetic modifier of HCM and confer an increased risk for cardiovascular death.more | more | |
| TTN:c.10882G-T(p.E3628*) | Expressivity | Risk factor | Patients with TTNTV (3 of 13 [23.1%]) were more likely to experience cardiovascular death compared with those without TTNTV (39 of 516 [7.6%]) [adjusted hazard ratio, 6.88; 95% confidence interval, 2.04-23.20; P=0.002). | TTNtv might be a genetic modifier of HCM and confer an increased risk for cardiovascular death.more | more | |
| TTN:c.11186C-G(p.S3729*) | Expressivity | Risk factor | Patients with TTNTV (3 of 13 [23.1%]) were more likely to experience cardiovascular death compared with those without TTNTV (39 of 516 [7.6%]) [adjusted hazard ratio, 6.88; 95% confidence interval, 2.04-23.20; P=0.002). | TTNtv might be a genetic modifier of HCM and confer an increased risk for cardiovascular death.more | more | |
| TTN:c.16118T-G(p.L5373*) | Expressivity | Risk factor | Patients with TTNTV (3 of 13 [23.1%]) were more likely to experience cardiovascular death compared with those without TTNTV (39 of 516 [7.6%]) [adjusted hazard ratio, 6.88; 95% confidence interval, 2.04-23.20; P=0.002). | TTNtv might be a genetic modifier of HCM and confer an increased risk for cardiovascular death.more | more | |
| TTN:c.6790+5T>G | Expressivity | Risk factor | Patients with TTNTV (3 of 13 [23.1%]) were more likely to experience cardiovascular death compared with those without TTNTV (39 of 516 [7.6%]) [adjusted hazard ratio, 6.88; 95% confidence interval, 2.04-23.20; P=0.002). | TTNtv might be a genetic modifier of HCM and confer an increased risk for cardiovascular death.more | more | |
| TTN:rs142095604 | Expressivity | Risk factor | Patients with TTNTV (3 of 13 [23.1%]) were more likely to experience cardiovascular death compared with those without TTNTV (39 of 516 [7.6%]) [adjusted hazard ratio, 6.88; 95% confidence interval, 2.04-23.20; P=0.002). | TTNtv might be a genetic modifier of HCM and confer an increased risk for cardiovascular death.more | more | |
| TTN:rs376396183 | Expressivity | Risk factor | Patients with TTNTV (3 of 13 [23.1%]) were more likely to experience cardiovascular death compared with those without TTNTV (39 of 516 [7.6%]) [adjusted hazard ratio, 6.88; 95% confidence interval, 2.04-23.20; P=0.002). | TTNtv might be a genetic modifier of HCM and confer an increased risk for cardiovascular death.more | more | |
| TTN:rs540059730 | Expressivity | Risk factor | Patients with TTNTV (3 of 13 [23.1%]) were more likely to experience cardiovascular death compared with those without TTNTV (39 of 516 [7.6%]) [adjusted hazard ratio, 6.88; 95% confidence interval, 2.04-23.20; P=0.002). | TTNtv might be a genetic modifier of HCM and confer an increased risk for cardiovascular death.more | more | |
| TTN:rs556524594 | Expressivity | Risk factor | Patients with TTNTV (3 of 13 [23.1%]) were more likely to experience cardiovascular death compared with those without TTNTV (39 of 516 [7.6%]) [adjusted hazard ratio, 6.88; 95% confidence interval, 2.04-23.20; P=0.002). | TTNtv might be a genetic modifier of HCM and confer an increased risk for cardiovascular death.more | more |