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:rs754717390 | 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:rs778260223 | 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 | |
| TNNT2 | TNNT2:rs397516471 | Expressivity | Altered severity | Pedigree analysis | The female carriers of TNNT2 and BAG3 variants had more advanced DCM.more | more |
| TNNI3K | TNNI3K:rs49812611 | Expressivity | Risk factor | There was significant gene-gene interaction between these snps and three-way snp combination of ace2 c>g, tnn13k c>t, calm3 a>t gene variants and was associated with high risk of hcm and dcm. | Prevalence of TNNI3K (3784 C>T) and CALM3 (-34T>A) variant homozygous genotype were significantly higher in HCM and DCM subjectsmore | more |
| PLN | PLN:rs77186188 | Expressivity | Altered contractility and functional deterioration in heart failure | Gene activity study | the g.203A>C genetic variant in the human PLN promoter may contribute to depressed contractility and accelerate functional deterioration in heart failure.more | more |
| LTBP4 | LTBP4:c.3311C>T(p.Thr1104Met) | Penetrance | Altered incidence | Log-rank P=0.027 | putative protective effect of DMDmore | more |
| Haplotype | Haplotype:(EDN1:c.+138A,rs5370:4A–T) | Expressivity | Risk factor | OR=5.90, 95% CI: 2.29-15.25, P=0.0001 | The haplotype analysis revealed 4A-T to be risk haplotype for DCM (OR 5.90, 95% CI 2.29-15.25, p=0.0001).more | more |
| Haplotype:(TNNI3K:3784C>T,CALM3:-34T>A) | Expressivity | Altered LVEF level | P<0.03 | DCM patients with CT genotype showed significant decrease in LVEF as compared to CC genotype (p < 0.03).more | more | |
| EDN1 | EDN1:c.+138A | Expressivity | Risk factor | OR=4.12, 95% CI: 2.10-8.08; P=0.0001 | EDN1 polymorphisms (+138A, A30A, T40I) appear to play a significant role in the pathogenesis of DCM,more | more |
| EDN1:c.A30A | Expressivity | Risk factor | Unique in DCM | The two rare variants (G>A transition (rs150035515) at c.90 and C>T transition (rs149399492) at c.119) observed in the present study were found to be unique in DCM.more | more |