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 |
520210 |
1. Apply sex-specific ruleNone |
520210 |
2. Check conditionsNone |
520210 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters:
2 out of 7 registries used, show all original rules. |
120 |
4. Check minimum number of eventsNone |
120 |
5. Include endpointsNone |
120 |
6. Filter based on genotype QC (FinnGen only) |
120 |
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, wide
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 | 120 | 52 | 68 |
| Unadjusted period prevalence (%) | 0.02 | 0.02 | 0.03 |
| Median age at first event (years) | 65.38 | 69.76 | 62.03 |
-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
CodeWAS (R11)
↥CodeWAS is a tool for exploring the associations between an endpoint and all of the medical codes and drug codes.
This is a new tool, please reach out using the contact form for feedback and improvement ideas.
First, a cohort is built by matching controls to the endpoint cases using year of birth and sex. Then, a Fisher test is done for all the medical codes and drug codes between the cases and controls of this cohort. Codes are reported in the table below if they have −log10(p-value) ≥ 6.
Matched cohort
- Matched cases
- 106
- Matched controls
- 1059
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
I42.5
ICD-10 Finland
Other restrictive cardiomyopathy
+∞
139.8
101
*
C03DA01
ATC
spironolactone; oral
22.1
40.3
67
76
I50.9
ICD-10 Finland
Heart failure, unspecified
16.2
35.9
74
132
C03CA01
ATC
furosemide; systemic
21.1
35.8
94
286
I42.0
ICD-10 Finland
Dilated cardiomyopathy
+∞
31.9
29
*
I42.9
ICD-10 Finland
Cardiomyopathy, unspecified
+∞
31.9
29
*
TFC00
NOMESCO Finland
Catheterisation of right atrium or ventricle
150.6
31.7
32
*
I50.0
ICD-10 Finland
Congestive heart failure
12.2
23.8
48
67
FM1AE
NOMESCO Finland
Standard cardiac ultrasound examination
9.1
23.5
63
146
201
Kela drug reimbursment
Chronic cardiac insufficiency
19.5
22.6
35
26
FN1AC
NOMESCO Finland
Angiography of heart and/or coronary arteries
8.3
22.2
67
182
B01AA03
ATC
warfarin; systemic
7.0
19.4
69
223
I48
ICD-10 Finland
Atrial fibrillation and flutter
6.0
16.6
65
222
C07AB07
ATC
bisoprolol; oral
6.5
15.4
87
439
FJA10
NOMESCO Finland
Transvenous biopsy of right ventricle
+∞
14.9
14
*
M04AA01
ATC
allopurinol; systemic
6.7
14.6
42
94
C01AA05
ATC
digoxin; systemic
7.8
14.5
36
65
FM1DG
NOMESCO Finland
Very extensive MRI examination of heart with high intesity magnet
35.6
14.4
18
6
AN1
HP
Coronary angiography
6.1
13.9
44
110
GD1AA
NOMESCO Finland
Thorax X-ray examination
5.1
13.4
77
364
TFP20
NOMESCO Finland
Cardiodefibrillation
7.9
13.2
32
55
TFJ02
NOMESCO Finland
Muscle biopsy of heart
134.0
11.7
12
*
I42.2
ICD-10 Finland
Other hypertrophic cardiomyopathy
+∞
11.7
11
*
Z95.0
ICD-10 Finland
Presence of electronic cardiac devices
8.5
11.6
26
39
XFP20
NOMESCO Finland
Check up of cardiac pacemaker
6.7
10.9
29
56
207
Kela drug reimbursment
Chronic arrhythmias
4.8
10.6
41
123
Z94.1
ICD-10 Finland
Heart transplant status
121.5
10.6
11
*
N18.9
ICD-10 Finland
Chronic kidney disease, unspecified
7.6
10.5
25
41
R06.0
ICD-10 Finland
Dyspnoea
3.9
9.4
50
197
Z3231
NOMESCO Finland
Registered nurse
3.8
9.3
52
212
Z45.0
ICD-10 Finland
Adjustment and management of cardiac devices
8.5
9.3
20
28
I50.1
ICD-10 Finland
Left ventricular failure
10.1
9.2
18
21
FM1BE
NOMESCO Finland
Cardiac ultrasound examination through oesophagus
6.4
9.2
25
49
K78
ICPC
Atrial fibrillation/flutter
5.4
9.2
29
69
Z2221
NOMESCO Finland
Medical doctor
3.8
9.1
50
203
M10.9
ICD-10 Finland
Gout, unspecified
6.9
9.1
23
41
GA4YT
NOMESCO Finland
Puncture of pleura with ultrasound guidance
13.2
8.9
15
13
GD1UA
NOMESCO Finland
Thorax X-ray examination outside radiological department
4.0
8.6
39
134
XF404
NOMESCO Finland
Ambulatory ECG
5.3
8.5
27
64
FXA00
NOMESCO Finland
Total cardiopulmonary bypass in normothermia or moderate hypothermia at concurrent surgical procedure
7.4
8.5
20
32
I36.1
ICD-10 Finland
Nonrheumatic tricuspid (valve) insufficiency
16.2
8.4
13
9
R4110
NOMESCO Finland
Physiotherapy
3.7
8.4
46
183
H02AB06
ATC
prednisolone; systemic
3.4
8.2
65
338
127
Kela drug reimbursment
Transplant complication
20.2
7.8
11
6
4250A
ICD-9 Finland
Cardiomyopathy, Endomyocardial fibrosis
+∞
7.4
7
*
I42.1
ICD-10 Finland
Obstructive hypertrophic cardiomyopathy
+∞
7.4
7
*
L04AA06
ATC
mycophenolic acid; systemic
21.9
7.3
10
5
L04AD02
ATC
tacrolimus; systemic (calcineurin inhibitors)
32.4
7.3
9
*
XF400
NOMESCO Finland
ECG with 12 standard connections
3.6
7.0
36
132
C01BD01
ATC
amiodarone; systemic
8.8
6.9
14
18
I27.2
ICD-10 Finland
Other secondary pulmonary hypertension
42.9
6.9
8
*
C07AG02
ATC
carvedilol; oral
6.5
6.8
17
30
UJD10
NOMESCO Finland
Esophagoscopy, gastroscopy and duodenoscopy
3.1
6.8
45
202
D50.0
ICD-10 Finland
Iron deficiency anaemia secondary to blood loss (chronic)
13.5
6.7
11
9
NK6QA
NOMESCO Finland
Measurement of bone density from tow or more locations with X-ray
7.4
6.6
15
23
G04BE03
ATC
sildenafil; oral
15.6
6.5
10
7
GD1LA
NOMESCO Finland
GD
15.6
6.5
10
7
AP1
HP
Catheterization of the left side of the heart
15.6
6.5
10
7
XF620
NOMESCO Finland
Examination of circulation with color method
74.1
6.5
7
*
AP3
HP
Catheterization of the right and left side of the heart
74.1
6.5
7
*
351
Kela drug reimbursment
Apixaban, dabigatran, edoxaban and rivaroxaban for the treatment of atrial fibrillation
3.7
6.3
29
98
I42.8
ICD-10 Finland
Other cardiomyopathies
+∞
6.3
6
*
I27.0
ICD-10 Finland
Primary pulmonary hypertension
+∞
6.3
6
*
WX740
NOMESCO Finland
Nitrogen oxide therapy
+∞
6.3
6
*
N02AJ06
ATC
codeine and paracetamol; systemic
3.0
6.2
46
217
290
Kela drug reimbursment
Apixaban, dabigatran, edoxaban and rivaroxaban for the treatment of atrial fibrillation
3.5
6.2
32
117
ZX120
NOMESCO Finland
Intravenous
4.6
6.1
21
54
81
HP
Angiography of the heart and coronary arteries
4.7
6.0
20
50
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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