restrictive cardiomyopathy: A type of heart disorder referring to the inability of the ventricles to fill with blood because the myocardium (heart muscle) stiffens and looses its flexibility. Causes include replacement of the myocardium with scar tissue, abnormal cellular infiltration of the myocardium, or deposition of a substance (e.g., amyloid) in the myocardium.
Endpoint definition
↥
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
473681 |
1. Apply sex-specific ruleNone |
473681 |
2. Check conditionsNone |
473681 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters:
2 out of 7 registries used, show all original rules. |
106 |
4. Check minimum number of eventsNone |
106 |
5. Include endpointsNone |
106 |
6. Filter based on genotype QC (FinnGen only) |
105 |
Control definitions (FinnGen only)
Control exclude
I9_CARDMYO
Extra metadata
Level in the ICD hierarchy
C
First used in FinnGen datafreeze
DF2
Parent code in ICD-10
I42
Name in latin
Cardiomyopathia restrictiva
Similar endpoints
↥List of similar endpoints to
Restrictive cardiomyopathy
based on the number of shared cases.
Similar with more cases:
- Cardiomyopathies, Primary/intrinsic
- Cardiomyopathy (excluding other)
- Cardiomyopathy
- Other heart diseases
- Other heart diseases
Similar with less cases:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 790 | 397 | 379 |
| Only index persons | 553 | 298 | 255 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.01 | 0.01 | 0.01 |
| Only index persons | 0.01 | 0.01 | 0.01 |
| Median age at first event (years) | |||
| Whole population | 68.55 | 72.32 | 64.68 |
| Only index persons | 70.21 | 73.52 | 66.34 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 105 | 46 | 59 |
| Unadjusted period prevalence (%) | 0.02 | 0.02 | 0.03 |
| Median age at first event (years) | 66.86 | 69.76 | 64.60 |
-FinRegistry-
Age distribution of first events
-FinnGen-
Age distribution of first events
-FinRegistry-
Year distribution of first events
-FinnGen-
Year distribution of first events
-FinRegistry-
Cumulative Incidence Function
-FinnGen-
Cumulative Incidence Function
No data
Mortality – FinRegistry
↥Association
Association between endpoint I9_CARDMYORESTR and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| I9_CARDMYORESTR | 3.454 [2.39, 4.98] | < 0.001 |
| Birth year | 0.996 [0.99, 1.0] | 0.374 |
During the follow-up period (1.1.1998 — 31.12.2019), 141 out of 266 females with I9_CARDMYORESTR died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| I9_CARDMYORESTR | 3.473 [2.16, 5.58] | < 0.001 |
| Birth year | 0.989 [0.98, 1.0] | 0.019 |
During the follow-up period (1.1.1998 — 31.12.2019), 110 out of 218 males with I9_CARDMYORESTR died.
Mortality risk
Mortality risk for people of age
years, who have I9_CARDMYORESTR.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.452% | 0.712% |
| 5 | 2.057% | 3.886% |
| 10 | 5.061% | 10.332% |
| 15 | 9.883% | 18.825% |
| 20 | 17.043% | 30.526% |
Relationships between endpoints
↥Index endpoint: I9_CARDMYORESTR – Restrictive cardiomyopathy
GWS hits: -
Endpoint
Case Overlap
Survival Analysis
Genetic Correlations
Genetic Signals
N (Jaccard index)
HR [CI]
Extremity
rg [CI]
Extremity
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
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