Complex cardiac defects

Q17_COMPLEX_CARD_DEFEC

Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

520210

1. Apply sex-specific rule

None

520210

2. Check conditions

None

520210

3. Check pre-conditions, main-only, mode, registry filters

Registry filters:

  • Hospital discharge: ICD-10 Q2040|Q2041|Q2048|Q205|Q2060|Q2061|Q208|Q209|Q2115|Q2180|Q225|Q242|Q2521|Q2544
  • Hospital discharge: ICD-9 7453B|7451C|7458X|7459X|7456X|7454C|7462A|7468A|7471C|7472X
  • Hospital discharge: excluded ICD-10 Q90|Q91|Q92|Q93|Q96|Q8780|Q8781|Q8782|Q8783|Q8784|Q8786|Q8788|Q85|Q796|Q874|Q875
  • Hospital discharge: excluded ICD-9 758|7595|75683
  • Cause of death: ICD-10 Q2040|Q2041|Q2048|Q205|Q2060|Q2061|Q208|Q209|Q2115|Q2180|Q225|Q242|Q2521|Q2544
  • Cause of death: ICD-9 7453B|7451C|7458X|7459X|7456X|7454C|7462A|7468A|7471C|7472X
  • Cause of death: excluded ICD-10 Q90|Q91|Q92|Q93|Q96|Q8780|Q8781|Q8782|Q8783|Q8784|Q8786|Q8788|Q85|Q796|Q874|Q875
  • Cause of death: excluded ICD-9 758|7595|75683

2 out of 7 registries used, show all original rules.

219

4. Check minimum number of events

None

219

5. Include endpoints

None

219

6. Filter based on genotype QC (FinnGen only)

219

Control definitions (FinnGen only)

Controls for this endpoint are individuals that are not cases.

Extra metadata

Level in the ICD hierarchy
3
First used in FinnGen datafreeze
DF7

Case counts by codes

FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 2105 1054 1036
Only index persons 1452 753 699
Unadjusted period prevalence (%)
Whole population 0.03 0.03 0.03
Only index persons 0.03 0.03 0.03
Median age at first event (years)
Whole population 5.92 8.36 2.74
Only index persons 11.17 16.28 5.66

-FinnGen-

Key figures

All Female Male
Number of individuals 219 127 92
Unadjusted period prevalence (%) 0.04 0.04 0.04
Median age at first event (years) 15.13 20.14 8.21

-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
197
Matched controls
1969
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
201
Kela drug reimbursment
Chronic cardiac insufficiency
110.7
96.0
100
18
FM1AE
NOMESCO Finland
Standard cardiac ultrasound examination
27.3
79.2
120
106
FXA00
NOMESCO Finland
Total cardiopulmonary bypass in normothermia or moderate hypothermia at concurrent surgical procedure
59.8
72.6
84
24
FM1BE
NOMESCO Finland
Cardiac ultrasound examination through oesophagus
39.9
72.6
93
43
B01AA03
ATC
warfarin; systemic
23.4
63.3
97
78
XF404
NOMESCO Finland
Ambulatory ECG
26.2
61.8
90
61
C03CA01
ATC
furosemide; systemic
17.1
60.2
109
133
C03DA01
ATC
spironolactone; oral
22.4
56.6
87
67
C01AA05
ATC
digoxin; systemic
51.2
51.4
61
17
Q20.48
ICD-10 Finland
Single ventricle
+∞
51.3
47
*
XF402
NOMESCO Finland
ECG with work load test
25.1
51.0
74
46
Q22.5
ICD-10 Finland
Ebstein anomaly
+∞
49.0
45
*
FM1DG
NOMESCO Finland
Very extensive MRI examination of heart with high intesity magnet
113.7
48.6
51
6
XF400
NOMESCO Finland
ECG with 12 standard connections
10.3
45.5
111
219
FM1EE
NOMESCO Finland
Extensive structural and functional ultrasound examination of heart
10.5
45.3
108
204
TFC00
NOMESCO Finland
Catheterisation of right atrium or ventricle
74.4
41.4
46
8
Q21.09
ICD-10 Finland
Ventricular septal defect NOS
88.2
38.7
42
6
Q21.00
ICD-10 Finland
Multiple ventricular septal defect
75.6
37.9
42
7
31
HP
Congenital heart failure surgery
+∞
37.7
35
*
FN1BC
NOMESCO Finland
Extensive angiography of hear and/or coronary arteries
27.5
36.3
50
24
Q20.3
ICD-10 Finland
Discordant ventriculoarterial connection
150.9
36.1
37
*
TPH15
NOMESCO Finland
Insertion of central venous catheter through external or internal jugular vein
12.8
35.6
68
78
GD1AA
NOMESCO Finland
Thorax X-ray examination
6.7
33.9
131
450
FN1AC
NOMESCO Finland
Angiography of heart and/or coronary arteries
11.9
33.4
66
80
Q21.08
ICD-10 Finland
Other specifed ventricular septal defect
37.7
33.3
42
14
TFC99
NOMESCO Finland
Catheterisation of heart with other procedure
58.4
32.9
38
8
61
HP
Catheterization and pressure measurement of the left side of the heart
84.5
32.1
35
5
62
HP
Catheterization and pressure measurement of the right side of the heart
353.7
30.7
30
*
GD1UA
NOMESCO Finland
Thorax X-ray examination outside radiological department
7.9
29.2
76
145
XF622
NOMESCO Finland
Measurement of minute volume of heart
112.7
27.5
29
*
TPH07
NOMESCO Finland
Cathetrisation of artery
8.3
27.3
67
115
FM2CE
NOMESCO Finland
NA
10.9
24.5
49
58
G04BE03
ATC
sildenafil; oral
77.7
24.5
27
*
Q20.5
ICD-10 Finland
Discordant atrioventricular connection
+∞
23.4
22
*
C01BD01
ATC
amiodarone; systemic
46.2
23.4
28
7
I36.1
ICD-10 Finland
Nonrheumatic tricuspid (valve) insufficiency
135.9
23.1
24
*
XFP20
NOMESCO Finland
Check up of cardiac pacemaker
16.6
22.9
37
27
Q21.80
ICD-10 Finland
Communication from left ventricle to right atrium
+∞
22.3
21
*
WX408
NOMESCO Finland
General anesthesy, balanced
4.6
21.4
105
394
Q20.40
ICD-10 Finland
Double inlet left ventricle
+∞
21.2
20
*
GAE10
NOMESCO Finland
Closure of previous incision of chest wall
47.4
21.0
25
6
I48
ICD-10 Finland
Atrial fibrillation and flutter
7.9
21.0
51
83
Z95.0
ICD-10 Finland
Presence of electronic cardiac devices
17.0
20.8
33
23
R4110
NOMESCO Finland
Physiotherapy
4.4
19.7
96
353
WX872
NOMESCO Finland
Intensive care
18.4
19.5
30
19
Q20.8
ICD-10 Finland
Other congenital malformations of cardiac chambers and connections
+∞
19.1
18
*
XF620
NOMESCO Finland
Examination of circulation with color method
110.7
18.9
20
*
FDF05
NOMESCO Finland
Percutaneous transluminal occlusion of aorto-pulmonary collaterals
209.1
18.9
19
*
Q20.1
ICD-10 Finland
Double outlet right ventricle
209.1
18.9
19
*
Z45.0
ICD-10 Finland
Adjustment and management of cardiac devices
17.7
18.7
29
19
Q21.10
ICD-10 Finland
Persistent ostium secundum
13.0
18.6
33
30
TFP20
NOMESCO Finland
Cardiodefibrillation
13.0
18.6
33
30
Q25.1
ICD-10 Finland
Coarctation of aorta
25.8
18.3
25
11
Q21.21
ICD-10 Finland
Atrioventricular duct
+∞
18.0
17
*
207
Kela drug reimbursment
Chronic arrhythmias
8.7
18.0
40
56
FM1DE
NOMESCO Finland
Doppler ultrasound examination of heart
7.4
17.5
44
74
Q22.1
ICD-10 Finland
Congenital pulmonary valve stenosis
55.3
17.3
20
*
FAE00
NOMESCO Finland
Anastomosis to pulmonary artery from superior vena cava
+∞
16.9
16
*
7AX01
NOMESCO Finland
NA
98.6
16.9
18
*
XF600
NOMESCO Finland
Bloodpressure measurement
5.9
16.3
49
105
Q22.41
ICD-10 Finland
Tricuspid atresia
+∞
15.8
15
*
Q22.0
ICD-10 Finland
Pulmonary valve atresia
+∞
15.8
15
*
FXA10
NOMESCO Finland
Total cardiopulmonary bypass in deep hypothermia at concurrent surgical procedure
61.6
15.0
17
*
WX892
NOMESCO Finland
Monitored bed care
6.5
15.0
41
77
74639
ICD-8 Finland
Congenital anomalies of heart, Defectus septi ventriculorum
86.7
14.8
16
*
C07AB02
ATC
metoprolol; systemic
5.8
14.7
44
93
FAE10
NOMESCO Finland
Bidirectional anastomosis between superior vena cava and pulmonary artery
161.5
14.7
15
*
FN1BB
NOMESCO Finland
Contrast angiography of heart and/or coronary arteries after bypass surgery
29.8
14.6
19
7
XFE00
NOMESCO Finland
Epicardial ultrasonography
19.4
14.2
21
12
C07AA07
ATC
sotalol; systemic
22.1
14.1
20
10
Q23.4
ICD-10 Finland
Hypoplastic left heart syndrome
57.7
14.0
16
*
I50.9
ICD-10 Finland
Heart failure, unspecified
8.4
13.9
31
43
C09AA02
ATC
enalapril; systemic
5.3
13.8
45
105
Q25.21
ICD-10 Finland
Interrupted aortic arch
+∞
13.7
13
*
I44.2
ICD-10 Finland
Atrioventricular block, complete
28.1
13.6
18
7
FM1CG
NOMESCO Finland
Extensive examination of hear with high intensity magnet
149.9
13.6
14
*
WX404
NOMESCO Finland
Intravenous generell anesthesy
3.5
13.6
83
343
Z98.8
ICD-10 Finland
Other specified postsurgical states
14.5
12.8
21
16
FPF20
NOMESCO Finland
Implantation of epicardial pacemaker with atrial and ventricular electrodes
74.8
12.8
14
*
7454A
ICD-9 Finland
Bulbus cordis anomalies and anomalies of cardiac septal closure, Ventricular septal defect[DEFECTUS SEPTI VENTRICULORUM NUD]
+∞
12.6
12
*
FBE10
NOMESCO Finland
Expansion or reconstruction of pulmonary artery using patch
+∞
12.6
12
*
5255
FHL
Deep hypothermia (<20 °) with cardiopulmonary resuscitation
+∞
12.6
12
*
Z94.1
ICD-10 Finland
Heart transplant status
138.5
12.6
13
*
C07AB07
ATC
bisoprolol; oral
3.4
12.5
75
300
ZX120
NOMESCO Finland
Intravenous
5.4
12.5
39
86
FPE30
NOMESCO Finland
Replacement of transvenous cardiac pacemaker pulse generator
28.8
12.3
16
6
FN1CC
NOMESCO Finland
Very extensive angiography of heart and/or coronary arteries
49.9
12.0
14
*
ZX108
NOMESCO Finland
Inhalation
20.5
11.8
17
9
Q25.0
ICD-10 Finland
Patent ductus arteriosus
12.9
11.6
20
17
I35.1
ICD-10 Finland
Aortic (valve) insufficiency
12.9
11.6
20
17
FDA00
NOMESCO Finland
Aortoplasty and aorto-pulmonary shunt for HLHS
127.1
11.6
12
*
Q24.0
ICD-10 Finland
Dextrocardia
127.1
11.6
12
*
I47.1
ICD-10 Finland
Supraventricular tachycardia
9.0
11.5
24
30
XF640
NOMESCO Finland
NA
13.0
11.1
19
16
Q21.19
ICD-10 Finland
Atrial septal defect NOS
46.1
11.1
13
*
ZX199
NOMESCO Finland
Other rote
19.2
10.9
16
9
TFB00
NOMESCO Finland
Cathetrisation of pulmonal artery
63.5
10.7
12
*
Q24.4
ICD-10 Finland
Congenital subaortic stenosis
115.9
10.5
11
*
7455A
ICD-9 Finland
Bulbus cordis anomalies and anomalies of cardiac septal closure, Ostium secundum type atrial septal defect
+∞
10.5
10
*
TFJ02
NOMESCO Finland
Muscle biopsy of heart
+∞
10.5
10
*
ZSF00
NOMESCO Finland
Procedure related to previous procedure classified in chapter F
+∞
10.5
10
*
Q20.9
ICD-10 Finland
Congenital malformation of cardiac chambers and connections, unspecified
+∞
10.5
10
*
WX882
NOMESCO Finland
High dependency care
4.5
10.4
38
99
WX700
NOMESCO Finland
Respiratory and circulatory monitoring
3.4
9.8
53
194
FFC22
NOMESCO Finland
Percutaneous transluminal closure of ostium secundum type ASD
18.7
9.5
14
8
7471A
ICD-9 Finland
Other congenital anomalies of circulatory system, Coarctation of aorta[COARCTATIO AORTAE]
104.9
9.5
10
*
74619
ICD-8 Finland
Congenital anomalies of heart, Transposition of great vessels
104.9
9.5
10
*
Q21.18
ICD-10 Finland
Other spedified atrial septal defect
104.9
9.5
10
*
Z95.2
ICD-10 Finland
Presence of prosthetic heart valve
23.0
9.5
13
6
WX704
NOMESCO Finland
Intubation
4.9
9.5
31
72
Q20.60
ICD-10 Finland
Left isomerism of atrial appendages
+∞
9.4
9
*
FGC10
NOMESCO Finland
Annuloplasty of tricuspid valve using prosthetic ring
+∞
9.4
9
*
7451A
ICD-9 Finland
Bulbus cordis anomalies and anomalies of cardiac septal closure, Transposition of great vessels[TRANSPOSITIO CORDIS COMPLETA]
+∞
9.4
9
*
7453B
ICD-9 Finland
Bulbus cordis anomalies and anomalies of cardiac septal closure, Common ventricle[COMMON VENTRICLE]
+∞
9.4
9
*
JN3AE
NOMESCO Finland
Abdominal ultrasound examination
3.2
9.3
54
206
WZC30
NOMESCO Finland
Teaching
4.2
9.3
36
99
I50.1
ICD-10 Finland
Left ventricular failure
11.5
9.0
16
15
GA4YT
NOMESCO Finland
Puncture of pleura with ultrasound guidance
17.3
8.7
13
8
FN1CD
NOMESCO Finland
Very extensive CT of coronary arteries
93.9
8.5
9
*
Q24.3
ICD-10 Finland
Pulmonary infundibular stenosis
93.9
8.5
9
*
FXA20
NOMESCO Finland
Total cardiopulmonary bypass in deep hypothermia and circulatory arrest at concurrent surgical procedure
93.9
8.5
9
*
Q21.9
ICD-10 Finland
Congenital malformation of cardiac septum, unspecified
93.9
8.5
9
*
K83
ICPC
Heart valve disease NOS
93.9
8.5
9
*
RS224
NOMESCO Finland
NA
11.5
8.5
15
14
602
Kela drug reimbursment
Children's severe malnutrition
7.1
8.4
20
31
Q22.40
ICD-10 Finland
Congenital tricuspid stenosis
+∞
8.4
8
*
Q20.00
ICD-10 Finland
Common arterial trunk
+∞
8.4
8
*
Q21.88
ICD-10 Finland
Other congenital malformations of cardiac septa
+∞
8.4
8
*
74663
ICD-8 Finland
Congenital anomalies of heart, Stenosis valvulae pulmonalis
+∞
8.4
8
*
FGB10
NOMESCO Finland
Repair of Ebstein's anomaly with mobilisation and ventricular plication
+∞
8.4
8
*
FQA00
NOMESCO Finland
Orthotopic transplantation of heart
+∞
8.4
8
*
Q24.8
ICD-10 Finland
Other specified congenital malformations of heart
+∞
8.4
8
*
7454C
ICD-9 Finland
Bulbus cordis anomalies and anomalies of cardiac septal closure, Ventricular septal defect[LEFT VENTRICULAR AND RIGHT ATRIAL COMMUNICATION]
+∞
8.4
8
*
74689
ICD-8 Finland
Congenital anomalies of heart, Aliae definitae
+∞
8.4
8
*
I50.0
ICD-10 Finland
Congestive heart failure
9.6
8.2
16
18
J18.9
ICD-10 Finland
Pneumonia, unspecified
3.1
8.1
49
192
Q23.11
ICD-10 Finland
Bicuspid aortic valve
15.9
7.8
12
8
B01AB05
ATC
enoxaparin; parenteral
2.9
7.8
53
223
FM1BD
NOMESCO Finland
Extensive CT of heart
46.9
7.8
9
*
I49.5
ICD-10 Finland
Sick sinus syndrome
10.7
7.7
14
14
TPH04
NOMESCO Finland
Cathetrisation of vein
2.8
7.6
54
233
FBJ10
NOMESCO Finland
Anastomosis to pulmonary artery from subclavian artery with interposition graft
83.1
7.5
8
*
AP2
HP
Catheterization of the right side of the heart
83.1
7.5
8
*
I48.0
ICD-10 Finland
Paroxysmal atrial fibrillation
8.9
7.5
15
18
7461A
ICD-9 Finland
Other congenital anomalies of heart, Tricuspid atresia and stenosis, congenital[VITIUM VALVULAE TRICUSPIDALIS CONGENITUM CUM ATRESI]
+∞
7.3
7
*
FLE96
NOMESCO Finland
Other repair of outlet obstruction of left ventricle
+∞
7.3
7
*
5253
FHL
Cardiac lung machine
+∞
7.3
7
*
7459X
ICD-9 Finland
Bulbus cordis anomalies and anomalies of cardiac septal closure, Unspecified defect of septal closure
+∞
7.3
7
*
FFK20
NOMESCO Finland
Atrio-pulmonary anastomosis
+∞
7.3
7
*
AF1
HP
Surgery of congenital heart defect
+∞
7.3
7
*
Q21.8
ICD-10 Finland
Other congenital malformations of cardiac septa
+∞
7.3
7
*
Q20.41
ICD-10 Finland
Double inlet right ventricle
+∞
7.3
7
*
R06.0
ICD-10 Finland
Dyspnoea
2.9
7.3
47
190
Q21.0
ICD-10 Finland
Ventricular septal defect
31.3
7.2
9
*
I47.2
ICD-10 Finland
Ventricular tachycardia
31.3
7.2
9
*
Q25.40
ICD-10 Finland
Aortic hypoplasia
41.5
6.8
8
*
I34.09
ICD-10 Finland
Mitral (valve) insufficiency
8.3
6.7
14
18
Z03.5
ICD-10 Finland
Observation for other suspected cardiovascular diseases
3.7
6.5
28
85
Q21.11
ICD-10 Finland
Paten or persistent foramen ovale
7.0
6.5
15
23
FAE30
NOMESCO Finland
Total cavo-pulmonary connection using fenestrated patch
72.1
6.5
7
*
Q24.9
ICD-10 Finland
Congenital malformation of heart, unspecified
72.1
6.5
7
*
7454B
ICD-9 Finland
Bulbus cordis anomalies and anomalies of cardiac septal closure, Ventricular septal defect[DEFECTUS SEPTI VENTRICULORUM SIMPLEX]
72.1
6.5
7
*
74642
ICD-8 Finland
Congenital anomalies of heart, Defectus septi atriorum, ostium secundum
72.1
6.5
7
*
FXA13
NOMESCO Finland
Total cardiopulmonary bypass in deep hypothermia and exclusive cerebral perfusion
72.1
6.5
7
*
FBE35
NOMESCO Finland
Percutaneous transluminal angioplasty of pulmonary artery with insertion of stent
72.1
6.5
7
*
Z01.8
ICD-10 Finland
Other specified special examinations
2.6
6.5
51
233
GAA10
NOMESCO Finland
Intercostal insertion of pleural drainage tube
8.6
6.4
13
16
FPE20
NOMESCO Finland
Implantation of transvenous cardiac pacemaker with atrial and ventricular electrodes
9.7
6.4
12
13
7451B
ICD-9 Finland
Bulbus cordis anomalies and anomalies of cardiac septal closure, Transposition of great vessels[DOUBLE OUTLET RIGHT VENTRICLE]
+∞
6.3
6
*
FPH00
NOMESCO Finland
Transvenous extraction of transvenous cardiac pacemaker or cardioverter-defibrillator
+∞
6.3
6
*
7456C
ICD-9 Finland
Bulbus cordis anomalies and anomalies of cardiac septal closure, Endocardial cushion defects[ASD CANALIS ATRIOVENTRICULARIS COMMUNIS]
+∞
6.3
6
*
Q22.6
ICD-10 Finland
Hypoplastic right heart syndrome
+∞
6.3
6
*
7462A
ICD-9 Finland
Other congenital anomalies of heart, Ebstein's anomaly[ANOMALIA EBSTEIN]
+∞
6.3
6
*
5233
FHL
Right ventricular bypass surgery (Fontan et al.)
+∞
6.3
6
*
4273A
ICD-9 Finland
Cardiac dysrhythmias, Atrial fibrillation and flutter
+∞
6.3
6
*
5409
FHL
Other measure in this category
+∞
6.3
6
*
AP3
HP
Catheterization of the right and left side of the heart
+∞
6.3
6
*
Q20.4
ICD-10 Finland
Double inlet ventricle
+∞
6.3
6
*
Q21.15
ICD-10 Finland
Common atrium
+∞
6.3
6
*
Q25.41
ICD-10 Finland
Persistent right-sided aortic arch
+∞
6.3
6
*
FEB10
NOMESCO Finland
Decompression and drainage of pericardium
27.6
6.3
8
*
81
HP
Angiography of the heart and coronary arteries
8.1
6.2
13
17
127
Kela drug reimbursment
Transplant complication
8.1
6.2
13
17
WX402
NOMESCO Finland
General anaesthesia
2.5
6.1
54
262
C02EA02
ATC
NA
10.5
6.1
11
11
3820A
ICD-9 Finland
Suppurative and unspecified otitis media, Acute suppurative otitis media
7.6
6.0
13
18
WZB00
NOMESCO Finland
Telephone receipt or other advice
2.3
6.0
68
372

LabWAS

OMOP Concept
People with measurements
Mean N measurements
Mean measured value
(ID) Name
N Cases
N Controls
OR
-log10(p)
cases
controls
cases
controls
unit
-log10(p)
N cases
N controls
165
259
22.78
120.78
11.1
3.7
760.1
799.0
ng/l
0.11
160
216
104
220
8.10
52.66
7.0
3.0
2944.2
519.8
ng/l
1.24
89
131
148
456
7.93
51.05
19.9
6.5
1.8
1.1
inr
4.68
28
147
85
207
6.08
35.59
3.8
2.7
19.7
23.6
%
1.85
76
189
108
379
4.65
28.18
4.2
2.9
—
—
—
0
0
54
107
6.37
27.56
39.8
12.8
2.1
1.2
inr
—
8
17
66
162
5.40
26.65
14.6
11.3
106.4
104.7
mmol/l
1.96
66
157
39
60
7.69
25.21
37.6
19.7
—
—
—
0
0
38
59
7.58
24.33
40.6
12.5
24.5
24.5
mmol/l
0.02
38
59
119
490
4.13
24.13
4.3
3.0
—
—
—
0
0
97
357
4.08
22.85
6.3
3.5
1.8
1.0
mg/l
1.57
77
270
26
33
8.81
19.58
6.5
26.2
—
—
—
0
0
123
612
3.30
16.99
11.6
7.4
37.4
37.3
g/l
0.10
118
575
48
129
4.48
16.84
33.4
12.5
0.9
1.2
mmol/l
0.27
43
105
36
77
5.40
16.56
42.9
10.9
1.1
1.3
%
1.36
36
77
36
77
5.40
16.56
42.9
10.9
0.7
0.7
%
0.11
36
77
23
32
7.91
16.00
7.2
23.1
73.3
72.3
%
0.08
23
32
133
720
3.16
15.42
5.4
4.5
—
—
—
0
0
158
955
3.35
14.93
6.6
3.0
—
—
—
0
0
58
197
3.64
14.57
2.7
2.1
—
—
—
0
0
67
257
3.32
13.85
30.2
10.3
—
—
—
0
0
90
420
2.94
13.14
5.1
3.4
60.3
18.7
ng/l
1.25
54
215
66
273
3.03
11.81
9.2
10.5
1.0
1.2
mmol/l
0.19
54
213
122
702
2.67
11.47
9.6
9.6
—
—
—
0
0
13
13
10.57
11.45
5.2
2.7
—
—
—
0
0
150
960
2.79
11.31
18.3
6.9
6.1
6.3
mmol/l
0.77
145
884
12
11
11.48
11.15
3.5
12.4
—
—
—
0
0
12
11
11.48
11.15
3.5
12.4
—
—
—
0
0
85
417
2.70
10.92
4.1
3.3
3.8
2.8
mg/l
0.85
79
364
73
333
2.79
10.80
7.0
4.9
—
—
—
0
0
64
273
2.90
10.72
27.8
13.8
24.9
25.1
mmol/l
0.30
64
273
53
206
3.07
10.46
2.5
1.7
—
—
—
0
0
17
28
6.50
10.08
1.2
1.2
—
—
—
0
0
15
23
6.93
9.48
9.5
31.0
11.3
12.1
%
0.45
15
23
13
17
8.07
9.37
4.8
3.4
1.2
2.4
%
—
5
9
128
808
2.41
9.16
20.6
11.3
1.2
1.2
mmol/l
2.53
119
722
98
555
2.39
8.92
8.4
9.6
—
—
—
0
0
26
71
4.02
8.74
7.6
13.3
0.7
0.7
%
0.25
26
71
53
226
2.77
8.73
17.4
8.5
—
—
—
0
0
127
817
2.32
8.46
4.5
3.1
97.5
79.8
ug/l
0.51
121
763
11
5
23.04
8.10
3.6
1.8
—
—
—
0
0
18
39
4.94
8.03
1.2
1.2
5.0
2.8
u/ml
—
10
20
41
159
2.94
8.00
2.0
1.6
—
—
—
0
0
14
24
6.16
7.96
4.4
2.5
—
—
—
0
0
56
258
2.57
7.86
17.6
9.0
5.0
5.0
kpa
0.15
56
242
12
18
7.00
7.69
1.0
1.2
—
—
—
0
0
12
18
7.00
7.69
1.0
1.0
—
—
—
0
0
13
23
5.95
7.15
4.1
2.3
—
—
—
0
0
14
27
5.47
7.07
2.4
2.2
—
—
—
0
0
19
50
4.07
6.69
4.4
2.8
—
—
—
0
0
66
352
2.25
6.58
4.2
2.3
430.7
166.5
u/l
1.60
66
342
47
218
2.47
6.41
18.2
8.6
8.7
9.7
kpa
2.07
47
206
16
40
4.24
6.01
3.0
2.6
—
—
—
0
0
138
1001
2.02
5.84
10.3
8.7
0.6
0.6
e9/l
0.73
128
848
138
1005
2.01
5.73
10.3
8.6
0.0
0.0
e9/l
0.08
128
850
140
1036
1.97
5.42
11.5
9.5
0.2
0.2
e9/l
1.24
131
898
14
36
4.09
5.07
1.6
1.3
—
—
—
0
0
70
418
1.99
5.03
5.4
3.9
7.4
7.4
ph
1.73
14
76
82
523
1.91
4.83
4.0
3.8
29.7
39.7
e6/l
0.24
62
403
78
490
1.92
4.80
3.9
3.1
2.4
2.4
mmol/l
0.48
72
443
138
1040
1.88
4.79
10.3
8.6
1.7
2.1
e9/l
6.75
128
901
9
11
8.47
4.60
1.0
1.2
—
—
—
0
0
128
954
1.82
4.48
13.2
11.3
0.0
0.0
e9/l
0.44
108
734
9
12
7.77
4.40
1.2
1.5
13.7
10.3
umol/l
—
9
12
75
478
1.87
4.35
4.1
3.8
0.4
0.2
e6/l
0.62
55
364
12
31
4.04
4.32
2.0
2.7
2.0
2.2
ug/l
0.05
12
26
7
6
11.99
4.30
2.0
1.2
—
—
—
0
0
91
618
1.81
4.29
4.8
4.6
9.8
49.9
e6/l
2.39
63
424
75
483
1.84
4.19
4.0
3.8
—
—
—
0
0
32
153
2.28
4.03
6.2
4.5
69.6
66.0
e9/l
0.14
19
105
56
333
1.92
3.98
3.9
3.1
622.6
578.8
mosm/kgh2o
0.70
51
284
6
5
12.28
3.78
1.8
1.4
—
—
—
0
0
15
51
3.08
3.65
6.1
7.4
21.8
24.1
mmol/l
3.06
15
43
192
1679
2.16
3.57
36.5
16.3
13.9
13.4
%
3.96
192
1651
32
566
0.49
3.48
2.5
2.3
—
—
—
0
0
50
301
1.86
3.39
7.4
3.2
—
—
—
0
0
6
7
8.77
3.28
1.8
2.4
—
—
—
0
0
205
1856
2.64
3.26
22.3
10.3
—
—
—
0
0
82
577
1.67
3.22
1.6
1.6
—
—
—
0
0
200
1794
2.32
3.20
26.5
12.3
24.7
21.1
mg/l
0.94
166
1298
140
1132
1.66
3.15
12.9
11.8
3.8
3.8
e9/l
0.01
129
968
12
39
3.20
3.14
2.1
2.4
—
—
—
0
0
12
39
3.20
3.14
2.1
2.4
—
—
—
0
0
12
39
3.20
3.14
2.1
2.4
—
—
—
0
0
12
39
3.20
3.14
2.1
2.4
—
—
—
0
0
12
41
3.04
2.90
1.3
3.5
0.9
1.7
e9/l
—
7
25
5
171
0.28
2.83
1.8
1.8
—
—
—
0
0
53
343
1.72
2.79
3.8
2.9
3.6
5.1
e6/l
1.18
48
307
20
93
2.27
2.70
1.5
1.2
—
—
—
0
0
16
67
2.50
2.70
3.7
11.6
—
—
—
0
0
199
1806
2.12
2.68
41.6
14.6
39.9
40.2
%
0.21
180
1539
11
39
2.92
2.51
1.3
3.3
0.3
0.2
e9/l
—
5
29
13
51
2.65
2.49
1.3
1.2
—
—
—
0
0
5
8
6.36
2.38
1.2
1.5
—
—
—
0
0
7
17
4.22
2.38
1.1
2.0
—
—
—
0
0
30
173
1.85
2.32
1.3
1.2
—
—
—
0
0
5
10
5.09
2.08
1.4
1.1
—
—
—
0
0
9
32
2.89
2.02
2.8
4.1
—
—
—
0
0
28
166
1.79
1.99
1.4
1.6
—
—
—
0
0
134
1137
1.46
1.97
5.2
4.4
—
—
—
0
0
10
40
2.57
1.86
1.3
3.3
265.2
502.9
e6/l
—
5
29
31
197
1.67
1.75
1.8
2.5
2.4
2.4
mmol/l
0.24
25
166
28
174
1.70
1.71
1.4
1.6
1045.0
1139.6
nmol/l
0.16
22
130
8
31
2.64
1.67
1.1
1.2
—
—
—
0
0
52
378
1.49
1.66
3.2
3.7
—
—
—
0
0
5
15
3.39
1.53
1.6
1.3
—
—
—
0
0
41
290
1.51
1.49
1.6
1.6
—
—
—
0
0
47
624
0.69
1.48
1.6
1.6
0.4
1.8
u/ml
—
5
127
20
119
1.75
1.43
3.7
1.6
—
—
—
0
0
6
24
2.54
1.31
5.5
4.6
22.8
27.2
umol/l
—
6
24
59
459
1.39
1.31
2.0
1.7
86.8
101.1
pmol/l
1.21
31
226
9
44
2.09
1.28
1.3
1.3
—
—
—
0
0
8
35
2.33
1.28
6.5
19.5
1.1
1.1
mmol/l
—
8
30
6
25
2.44
1.25
1.2
2.1
—
—
—
0
0
25
165
1.58
1.24
2.0
1.8
—
—
—
0
0
8
37
2.21
1.23
3.0
4.0
20.9
15.7
u/ml
—
8
37
20
125
1.66
1.22
3.6
6.1
0.0
0.3
%
—
6
34
8
38
2.15
1.19
1.8
1.7
—
—
—
0
0
6
26
2.34
1.19
1.0
1.0
—
—
—
0
0
33
450
0.69
1.18
3.4
3.0
—
—
—
0
0
55
431
1.37
1.16
3.2
2.8
—
—
—
0
0
5
111
0.44
1.16
1.4
1.6
294.0
318.4
mu/l
—
5
105
21
135
1.61
1.16
3.6
5.9
0.4
0.7
%
—
6
39
7
30
2.38
1.13
1.1
1.0
—
—
—
0
0
7
32
2.23
1.09
1.9
4.8
5.8
4.2
e9/l
—
7
32
7
32
2.23
1.09
1.7
4.9
64.7
55.6
%
—
7
32
10
52
1.97
1.08
1.2
2.1
—
—
—
0
0
16
98
1.68
1.06
3.3
1.7
—
—
—
0
0
16
98
1.68
1.06
3.6
4.7
1.3
1.2
mmol/l
0.78
16
88
5
22
2.30
1.04
10.4
2.3
1.4
1.2
mmol/l
—
5
22
5
23
2.20
0.98
3.0
1.7
16693.8
6343.8
e6/l
—
5
16
0
31
0.00
0.97
0.0
1.1
—
—
—
0
0
31
412
0.71
0.96
1.7
1.8
—
—
—
0
0
12
70
1.76
0.94
2.3
2.2
—
—
—
0
0
6
27
2.26
0.94
3.8
4.8
—
—
—
0
0
11
181
0.59
0.92
2.8
1.6
—
—
—
0
0
6
28
2.17
0.92
3.5
3.8
8.9
8.6
kpa
—
6
28
6
28
2.17
0.92
3.5
3.8
4.6
5.0
kpa
—
6
28
10
168
0.58
0.91
2.8
1.6
—
—
—
0
0
11
180
0.59
0.91
2.6
1.5
—
—
—
0
0
6
29
2.10
0.90
1.0
1.0
153.7
163.8
g/l
—
6
29
11
178
0.60
0.87
2.7
1.6
—
—
—
0
0
11
178
0.60
0.87
2.6
1.6
—
—
—
0
0
63
525
1.28
0.87
1.7
2.1
—
—
—
0
0
0
24
0.00
0.79
0.0
12.5
—
760.3
—
0
24
0
27
0.00
0.78
0.0
1.5
—
3.3
—
0
6
6
34
1.79
0.77
3.5
3.5
7.4
7.4
ph
—
6
28
50
411
1.28
0.77
1.6
1.7
—
—
—
0
0
10
60
1.70
0.73
1.6
1.6
—
—
—
0
0
16
227
0.68
0.73
1.1
1.3
—
—
—
0
0
20
272
0.71
0.72
1.3
1.2
4.8
7.9
u/ml
—
6
119
9
142
0.62
0.72
3.0
1.6
—
—
—
0
0
7
118
0.58
0.70
4.7
1.9
—
—
—
0
0
0
20
0.00
0.60
0.0
1.1
—
—
—
0
0
8
54
1.50
0.58
4.5
6.1
—
—
—
0
0
13
90
1.47
0.57
2.2
1.3
—
—
—
0
0
6
40
1.51
0.52
2.3
1.2
—
—
—
0
0
26
319
0.79
0.49
1.4
1.8
—
—
—
0
0
5
81
0.61
0.46
3.2
1.9
—
—
—
0
0
21
166
1.29
0.45
1.3
1.4
55.4
355.9
u/ml
1.38
21
155
21
167
1.28
0.43
1.4
1.4
—
—
—
0
0
0
15
0.00
0.41
0.0
1.2
—
—
—
0
0
5
34
1.48
0.40
6.2
6.4
—
—
—
0
0
10
71
1.43
0.40
1.3
1.2
—
—
—
0
0
5
36
1.40
0.38
1.8
3.5
3.9
3.9
mmol/l
—
5
31
5
76
0.65
0.36
1.2
1.5
—
—
—
0
0
6
41
1.48
0.36
5.0
2.9
77.0
3275.0
u/ml
—
6
36
12
155
0.76
0.34
1.3
1.4
167.2
150.6
iu/ml
—
6
57
21
252
0.82
0.34
1.3
1.2
—
—
—
0
0
24
282
0.83
0.32
1.2
1.2
11.3
18.6
iu/ml
—
7
83
8
63
1.28
0.28
1.9
1.6
—
—
—
0
0
5
72
0.69
0.26
1.2
1.4
—
—
—
0
0
5
72
0.69
0.26
1.2
1.4
—
—
—
0
0
5
38
1.32
0.23
2.4
1.5
0.2
0.3
nmol/l
—
5
28
126
1305
0.92
0.22
4.4
4.2
37.4
37.7
mmol/mol
0.12
117
1234
0
11
0.00
0.21
0.0
1.0
—
1425.8
—
0
11
0
11
0.00
0.21
0.0
1.1
—
—
—
0
0
0
11
0.00
0.21
0.0
1.0
—
—
—
0
0
0
10
0.00
0.21
0.0
1.2
—
—
—
0
0
0
12
0.00
0.21
0.0
8.6
—
—
—
0
0
0
12
0.00
0.21
0.0
1.2
—
—
—
0
0
0
12
0.00
0.21
0.0
1.1
—
—
—
0
0
0
13
0.00
0.21
0.0
27.7
—
0.6
—
0
13
0
13
0.00
0.21
0.0
1.2
—
—
—
0
0
0
13
0.00
0.21
0.0
1.3
—
21.4
—
0
5
0
13
0.00
0.21
0.0
1.0
—
7.2
—
0
13
0
14
0.00
0.20
0.0
1.0
—
—
—
0
0
0
14
0.00
0.20
0.0
5.9
—
—
—
0
0
0
14
0.00
0.20
0.0
8.6
—
0.6
—
0
14
0
14
0.00
0.20
0.0
2.9
—
—
—
0
0
7
62
1.13
0.17
1.3
1.1
—
—
—
0
0
7
63
1.11
0.17
1.0
1.2
—
—
—
0
0
7
63
1.11
0.17
1.3
1.1
—
—
—
0
0
28
255
1.11
0.16
1.5
1.5
265.0
439.1
titre
—
8
46
13
112
1.17
0.14
1.2
1.3
—
34.2
—
0
7
13
148
0.87
0.13
1.5
1.5
—
—
—
0
0
144
1466
0.95
0.11
3.9
3.5
1.3
1.5
mmol/l
3.27
138
1374
11
96
1.15
0.10
9.1
5.5
—
—
—
0
0
13
116
1.13
0.09
1.1
1.0
—
—
—
0
0
11
97
1.14
0.09
1.0
1.2
—
—
—
0
0
6
54
1.11
0.09
1.0
1.0
—
—
—
0
0
6
57
1.05
0.08
1.5
1.4
—
—
—
0
0
82
798
1.04
0.08
3.5
3.5
0.0
0.0
estimate
0.00
15
158
138
1400
0.96
0.07
4.0
3.3
1.3
1.2
mmol/l
0.10
131
1313
12
108
1.12
0.07
1.8
2.2
0.3
0.7
ug/l
—
7
47
62
639
0.96
0.07
3.5
3.3
—
—
—
0
0
7
83
0.84
0.07
3.0
2.1
—
—
—
0
0
43
446
0.96
0.06
3.4
4.1
6.0
8.1
mmol/l
2.23
37
400
13
141
0.92
0.05
3.7
3.6
—
—
—
0
0
30
287
1.05
0.05
4.2
4.3
36.5
16.5
mg/mmol
0.38
19
195
44
426
1.04
0.05
5.7
4.7
—
—
—
0
0
14
131
1.07
0.03
2.5
2.2
—
17.9
—
0
5
137
1381
0.98
0.03
3.7
3.4
5.6
5.6
mmol/l
0.16
124
1277
159
1580
1.02
0.02
5.2
4.3
2.2
1.9
mu/l
1.65
144
1476
80
810
0.98
0.02
3.6
3.6
0.0
0.0
estimate
0.00
14
153
41
401
1.03
0.02
2.0
1.8
1.3
1.3
mmol/l
0.07
36
356
53
536
0.99
0.00
2.0
1.9
—
—
—
0
0
28
281
1.00
0.00
3.6
3.4
124.1
111.8
mg/l
0.06
19
194
148
1479
1.00
0.00
4.1
3.7
2.6
2.8
mmol/l
0.93
139
1383
135
1352
1.00
0.00
4.3
3.8
15.4
14.5
pmol/l
3.59
122
1254
10
96
1.04
0.00
3.9
4.5
—
—
—
0
0
60
595
1.01
0.00
1.6
1.6
1.9
2.0
g/l
0.04
38
338
81
805
1.01
0.00
5.1
5.0
0.0
0.0
estimate
0.00
16
161
19
195
0.97
0.00
1.4
1.3
—
—
—
0
0
0
8
0.00
0.00
0.0
1.3
—
—
—
0
0
0
6
0.00
0.00
0.0
2.2
—
4.4
—
0
6
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
0
5
0.00
0.00
0.0
1.6
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
7
74
0.94
0.00
1.0
1.1
—
—
—
0
0
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
0
6
0.00
0.00
0.0
2.3
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
0.00
0.0
1.1
—
116.0
—
0
7
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
0.00
0.0
12.2
—
—
—
0
0
0
7
0.00
0.00
0.0
1.6
—
—
—
0
0
0
9
0.00
0.00
0.0
2.4
—
—
—
0
0
0
7
0.00
0.00
0.0
1.3
—
—
—
0
0
0
6
0.00
0.00
0.0
1.5
—
—
—
0
0
42
420
1.00
0.00
3.7
3.7
0.0
0.0
estimate
0.00
15
160

Mortality – FinRegistry

Association

Association between endpoint Q17_COMPLEX_CARD_DEFEC and mortality.

Females

Parameter HR [95% CI] p-value
Q17_COMPLEX_CARD_DEFEC 6.375 [4.13, 9.84] < 0.001
Birth year 0.996 [0.99, 1.0] 0.339

During the follow-up period (1.1.1998 — 31.12.2019), 91 out of 673 females with Q17_COMPLEX_CARD_DEFEC died.

Males

Parameter HR [95% CI] p-value
Q17_COMPLEX_CARD_DEFEC 6.479 [4.41, 9.53] < 0.001
Birth year 0.984 [0.97, 0.99] 0.001

During the follow-up period (1.1.1998 — 31.12.2019), 80 out of 619 males with Q17_COMPLEX_CARD_DEFEC died.

Mortality risk

Mortality risk for people of age

years, who have Q17_COMPLEX_CARD_DEFEC.

N-year risk Females Males
1 0.663% 1.037%
5 3.831% 6.686%
10 9.45% 15.84%
15 17.184% 27.856%
20 28.412% 42.442%

Relationships between endpoints

Index endpoint: Q17_COMPLEX_CARD_DEFEC – Complex cardiac defects

GWS hits: -

Endpoint
Case Overlap
Survival Analysis
Genetic Correlations
Genetic Signals
N (Jaccard index)
HR [CI]
rg [CI]
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
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