Risteys · Q17_CONGEN_MALFO_PULMONARY_TRICU

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 — Q22 Cause of death: ICD-10 — Q22 2 out of 7 registries used, show all original rules.	279
4. Check minimum number of events None	279
5. Include endpoints None	279
6. Filter based on genotype QC (FinnGen only)	279

Summary Statistics

↥

-FinRegistry-

Key figures

	All	Female	Male
Number of individuals
Whole population	3353	1847	1493
Only index persons	2303	1282	1021
Unadjusted period prevalence (%)
Whole population	0.05	0.05	0.04
Only index persons	0.04	0.05	0.04
Median age at first event (years)
Whole population	1.11	1.00	0.99
Only index persons	6.33	6.78	5.77

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	279	163	116
Unadjusted period prevalence (%)	0.05	0.06	0.05
Median age at first event (years)	10.49	14.33	5.08

-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
261: Matched controls
2602

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

Q22.1

ICD-10 Finland

Congenital pulmonary valve stenosis

+∞

193.6

161

FM1BE

NOMESCO Finland

Cardiac ultrasound examination through oesophagus

82.3

93.2

102

FXA00

NOMESCO Finland

Total cardiopulmonary bypass in normothermia or moderate hypothermia at concurrent surgical procedure

102.0

87.6

FM1EE

NOMESCO Finland

Extensive structural and functional ultrasound examination of heart

18.6

87.0

155

189

FM1AE

NOMESCO Finland

Standard cardiac ultrasound examination

21.6

81.6

130

114

XF400

NOMESCO Finland

ECG with 12 standard connections

12.4

64.7

138

216

201

Kela drug reimbursment

Chronic cardiac insufficiency

54.5

58.7

XF404

NOMESCO Finland

Ambulatory ECG

19.2

58.6

Q21.10

ICD-10 Finland

Persistent ostium secundum

+∞

56.3

XF402

NOMESCO Finland

ECG with work load test

20.8

52.1

FN1BC

NOMESCO Finland

Extensive angiography of hear and/or coronary arteries

78.5

50.6

C03DA01

ATC

spironolactone; oral

23.1

49.6

Q22.5

ICD-10 Finland

Ebstein anomaly

+∞

48.4

Q21.08

ICD-10 Finland

Other specifed ventricular septal defect

+∞

48.4

B01AA03

ATC

warfarin; systemic

18.3

46.7

FM1DG

NOMESCO Finland

Very extensive MRI examination of heart with high intesity magnet

102.5

46.7

TPH15

NOMESCO Finland

Insertion of central venous catheter through external or internal jugular vein

14.4

45.8

Q21.00

ICD-10 Finland

Multiple ventricular septal defect

+∞

44.0

C03CA01

ATC

furosemide; systemic

10.7

43.3

126

GD1AA

NOMESCO Finland

Thorax X-ray examination

6.6

43.2

157

486

FM2CE

NOMESCO Finland

19.6

43.2

Congenital heart failure surgery

+∞

42.9

Q21.09

ICD-10 Finland

Ventricular septal defect NOS

+∞

41.8

TPH07

NOMESCO Finland

Cathetrisation of artery

12.1

41.6

I37.0

ICD-10 Finland

Pulmonary valve stenosis

+∞

39.6

TFC99

NOMESCO Finland

Catheterisation of heart with other procedure

156.3

38.9

ZXE20

NOMESCO Finland

More than three and less than five hours

8.9

38.3

148

Q22.0

ICD-10 Finland

Pulmonary valve atresia

+∞

37.4

TFC00

NOMESCO Finland

Catheterisation of right atrium or ventricle

214.0

36.8

Catheterization and pressure measurement of the left side of the heart

214.0

36.8

C01AA05

ATC

digoxin; systemic

38.1

33.4

Catheterization and pressure measurement of the right side of the heart

+∞

31.9

GD1UA

NOMESCO Finland

Thorax X-ray examination outside radiological department

7.1

31.4

172

Z2221

NOMESCO Finland

Medical doctor

5.0

31.4

139

484

ZXD10

NOMESCO Finland

Scheduled procedure

4.7

30.7

159

644

WX408

NOMESCO Finland

General anesthesy, balanced

4.9

29.9

131

445

I37.1

ICD-10 Finland

Pulmonary valve insufficiency

325.6

29.4

FM1CG

NOMESCO Finland

Extensive examination of hear with high intensity magnet

80.8

26.3

Z98.8

ICD-10 Finland

Other specified postsurgical states

56.1

25.8

Q20.3

ICD-10 Finland

Discordant ventriculoarterial connection

+∞

25.4

ZXE30

NOMESCO Finland

More than five and less than seven hours

9.1

25.4

Q20.48

ICD-10 Finland

Single ventricle

+∞

24.3

FM1DE

NOMESCO Finland

Doppler ultrasound examination of heart

8.9

23.9

XF600

NOMESCO Finland

Bloodpressure measurement

7.0

23.4

111

I36.1

ICD-10 Finland

Nonrheumatic tricuspid (valve) insufficiency

91.7

23.1

GAE10

NOMESCO Finland

Closure of previous incision of chest wall

131.3

23.0

ZXE10

NOMESCO Finland

More than one and less than three hours

3.8

22.6

134

560

WX872

NOMESCO Finland

Intensive care

20.7

22.4

WX882

NOMESCO Finland

High dependency care

7.2

22.2

Q21.30

ICD-10 Finland

Tetralogy of Fallot

+∞

22.2

XFP20

NOMESCO Finland

Check up of cardiac pacemaker

18.7

21.6

XF622

NOMESCO Finland

Measurement of minute volume of heart

+∞

21.1

Z45.0

ICD-10 Finland

Adjustment and management of cardiac devices

29.8

20.5

Q22.2

ICD-10 Finland

Congenital pulmonary valve insufficiency

+∞

20.0

Q21.11

ICD-10 Finland

Paten or persistent foramen ovale

+∞

20.0

7460C

ICD-9 Finland

Other congenital anomalies of heart, Anomalies of pulmonary valve[VITIUM VALVULAE PULMONALIS CONGENITA CUM STENOSIS]

+∞

20.0

Q21.19

ICD-10 Finland

Atrial septal defect NOS

+∞

20.0

Z95.0

ICD-10 Finland

Presence of electronic cardiac devices

27.1

20.0

74663

ICD-8 Finland

Congenital anomalies of heart, Stenosis valvulae pulmonalis

+∞

19.0

FXA10

NOMESCO Finland

Total cardiopulmonary bypass in deep hypothermia at concurrent surgical procedure

+∞

19.0

FJF20

NOMESCO Finland

Replacement of pulmonary valve using homograft

+∞

19.0

WX404

NOMESCO Finland

Intravenous generell anesthesy

3.7

18.5

103

394

TFP20

NOMESCO Finland

Cardiodefibrillation

15.2

18.3

Q25.0

ICD-10 Finland

Patent ductus arteriosus

+∞

17.9

Q22.41

ICD-10 Finland

Tricuspid atresia

+∞

17.9

Q20.1

ICD-10 Finland

Double outlet right ventricle

+∞

17.9

FN1BB

NOMESCO Finland

Contrast angiography of heart and/or coronary arteries after bypass surgery

45.4

17.5

R4110

NOMESCO Finland

Physiotherapy

3.4

17.2

106

433

XFE00

NOMESCO Finland

Epicardial ultrasonography

23.8

17.2

Q87.14

ICD-10 Finland

Noonan's syndrome

+∞

16.8

5255

FHL

Deep hypothermia (<20 °) with cardiopulmonary resuscitation

+∞

16.8

FN1AC

NOMESCO Finland

Angiography of heart and/or coronary arteries

6.1

16.8

Z3231

NOMESCO Finland

Registered nurse

3.1

16.7

129

618

I48

ICD-10 Finland

Atrial fibrillation and flutter

7.0

16.6

WX892

NOMESCO Finland

Monitored bed care

5.7

16.2

102

FJD20

NOMESCO Finland

Bypass of pulmonary valve with ventriculopulmonary prosthesis or homograft

+∞

15.8

FBJ10

NOMESCO Finland

Anastomosis to pulmonary artery from subclavian artery with interposition graft

+∞

15.8

I37.2

ICD-10 Finland

Pulmonary valve stenosis with insufficiency

+∞

15.8

ZXD05

NOMESCO Finland

Urgent procedure

3.2

15.5

106

459

I44.2

ICD-10 Finland

Atrioventricular block, complete

47.9

15.2

ZXE00

NOMESCO Finland

One hour or less

2.9

15.1

142

759

Q25.6

ICD-10 Finland

Stenosis of pulmonary artery

+∞

14.7

Q21.32

ICD-10 Finland

Pulmonary atresia with Fallot ventricular septal defect

+∞

14.7

I35.1

ICD-10 Finland

Aortic (valve) insufficiency

18.8

14.1

FBE32

NOMESCO Finland

Percutaneous transluminal angioplasty of pulmonary artery

+∞

13.6

FJF10

NOMESCO Finland

Replacement of pulmonary valve using biological prosthesis

+∞

13.6

FJE42

NOMESCO Finland

Percutaneous transluminal expansion of pulmonary valve

+∞

13.6

C01BD01

ATC

amiodarone; systemic

27.4

13.5

207

Kela drug reimbursment

Chronic arrhythmias

7.3

13.3

ZXE40

NOMESCO Finland

More than seven and less than nine hours

11.3

13.0

ZXD30

NOMESCO Finland

Difficulties in perfomrming procedure

5.5

12.6

Q23.11

ICD-10 Finland

Bicuspid aortic valve

+∞

12.6

FBE10

NOMESCO Finland

Expansion or reconstruction of pulmonary artery using patch

+∞

12.6

Q22.3

ICD-10 Finland

Other congenital malformations of pulmonary valve

+∞

12.6

Q25.41

ICD-10 Finland

Persistent right-sided aortic arch

+∞

12.6

1EA01

NOMESCO Finland

+∞

12.6

XF620

NOMESCO Finland

Examination of circulation with color method

136.0

12.5

FPE30

NOMESCO Finland

Replacement of transvenous cardiac pacemaker pulse generator

136.0

12.5

G04BE03

ATC

sildenafil; oral

24.2

11.7

Q25.78

ICD-10 Finland

Other congenital malformations of pulmonary artery

+∞

11.5

FPF20

NOMESCO Finland

Implantation of epicardial pacemaker with atrial and ventricular electrodes

+∞

11.5

Q25.1

ICD-10 Finland

Coarctation of aorta

+∞

11.5

FDF05

NOMESCO Finland

Percutaneous transluminal occlusion of aorto-pulmonary collaterals

+∞

11.5

Q22.40

ICD-10 Finland

Congenital tricuspid stenosis

+∞

11.5

FBE35

NOMESCO Finland

Percutaneous transluminal angioplasty of pulmonary artery with insertion of stent

+∞

11.5

7AX01

NOMESCO Finland

36.7

11.4

ZX120

NOMESCO Finland

Intravenous

4.4

11.0

106

RS224

NOMESCO Finland

16.4

11.0

TPH04

NOMESCO Finland

Cathetrisation of vein

3.1

10.9

268

WX700

NOMESCO Finland

Respiratory and circulatory monitoring

3.2

10.8

243

Z3226

NOMESCO Finland

Physiotherapist

2.8

10.6

377

C07AA07

ATC

sotalol; systemic

15.0

10.6

FFC00

NOMESCO Finland

Suture of ostium secundum type ASD

+∞

10.5

Q24.3

ICD-10 Finland

Pulmonary infundibular stenosis

+∞

10.5

Q23.10

ICD-10 Finland

Congenital insufficiency of aortic valve

+∞

10.5

Q22.6

ICD-10 Finland

Hypoplastic right heart syndrome

+∞

10.5

ZXE50

NOMESCO Finland

More than nine and less than 12 hours

11.3

9.9

FM1BD

NOMESCO Finland

Extensive CT of heart

103.4

9.5

Q21.21

ICD-10 Finland

Atrioventricular duct

+∞

9.4

Q23.0

ICD-10 Finland

Congenital stenosis of aortic valve

+∞

9.4

FHB50

NOMESCO Finland

Transatrial closure of VSD using patch

+∞

9.4

FFC22

NOMESCO Finland

Percutaneous transluminal closure of ostium secundum type ASD

+∞

9.4

XQ903

NOMESCO Finland

Production of other scan or drawing

+∞

9.4

Q23.3

ICD-10 Finland

Congenital mitral insufficiency

+∞

9.4

7455A

ICD-9 Finland

Bulbus cordis anomalies and anomalies of cardiac septal closure, Ostium secundum type atrial septal defect

+∞

9.4

504

Kela drug reimbursment

Conditions requiring daily forced enteral nutrition

6.7

9.0

602

Kela drug reimbursment

Children's severe malnutrition

6.3

9.0

WZC30

NOMESCO Finland

Teaching

3.7

8.7

119

ZX199

NOMESCO Finland

Other rote

12.1

8.7

XF640

NOMESCO Finland

20.8

8.5

WZB00

NOMESCO Finland

Telephone receipt or other advice

2.4

8.5

447

AEX

Other pulmonary or pulmonary artery valve procedure

+∞

8.4

FGB10

NOMESCO Finland

Repair of Ebstein's anomaly with mobilisation and ventricular plication

+∞

8.4

Q21.3

ICD-10 Finland

Tetralogy of Fallot

+∞

8.4

Q20.40

ICD-10 Finland

Double inlet left ventricle

+∞

8.4

7461A

ICD-9 Finland

Other congenital anomalies of heart, Tricuspid atresia and stenosis, congenital[VITIUM VALVULAE TRICUSPIDALIS CONGENITUM CUM ATRESI]

+∞

8.4

FAE00

NOMESCO Finland

Anastomosis to pulmonary artery from superior vena cava

+∞

8.4

Q26.1

ICD-10 Finland

Persistent left superior vena cava

+∞

8.4

74734

ICD-8 Finland

Other congenital anomalies of circulatory system, Stenosis, hypoplasia sive aplasia arteriae pulmonalis

+∞

8.4

Q21.0

ICD-10 Finland

Ventricular septal defect

+∞

8.4

ZSF00

NOMESCO Finland

Procedure related to previous procedure classified in chapter F

+∞

8.4

C07AB07

ATC

bisoprolol; oral

2.6

8.3

327

B01AB05

ATC

enoxaparin; parenteral

2.9

8.3

217

FN1CC

NOMESCO Finland

Very extensive angiography of heart and/or coronary arteries

34.4

8.1

O99.4

ICD-10 Finland

Diseases of the circulatory system complicating pregnancy, childbirth and the puerperium

34.4

8.1

Z01.8

ICD-10 Finland

Other specified special examinations

2.6

8.1

301

Z03.5

ICD-10 Finland

Observation for other suspected cardiovascular diseases

3.6

8.0

111

ZY020

NOMESCO Finland

Telephone, letter or other consultation without direct patient contact

4.4

8.0

WX704

NOMESCO Finland

Intubation

4.6

7.8

TFB00

NOMESCO Finland

Cathetrisation of pulmonal artery

46.3

7.8

Z95.2

ICD-10 Finland

Presence of prosthetic heart valve

19.0

7.7

I47.2

ICD-10 Finland

Ventricular tachycardia

12.3

7.7

74642

ICD-8 Finland

Congenital anomalies of heart, Defectus septi atriorum, ostium secundum

82.1

7.4

WX402

NOMESCO Finland

General anaesthesia

2.4

7.4

336

Q24.0

ICD-10 Finland

Dextrocardia

+∞

7.3

74654

ICD-8 Finland

Congenital anomalies of heart, Maleformatio valvulae tricuspidalis (morbus Ebstein incluso)

+∞

7.3

Q20.5

ICD-10 Finland

Discordant atrioventricular connection

+∞

7.3

7452A

ICD-9 Finland

Bulbus cordis anomalies and anomalies of cardiac septal closure, Tetralogy of Fallot[TETRALOGIA FALLOT]

+∞

7.3

FAE10

NOMESCO Finland

Bidirectional anastomosis between superior vena cava and pulmonary artery

+∞

7.3

Q20.8

ICD-10 Finland

Other congenital malformations of cardiac chambers and connections

+∞

7.3

FGC10

NOMESCO Finland

Annuloplasty of tricuspid valve using prosthetic ring

+∞

7.3

FHE30

NOMESCO Finland

Repair of tetralogy of Fallot with transannular patch

+∞

7.3

Q22.8

ICD-10 Finland

Other congenital malformations of tricuspid valve

+∞

7.3

R2130

NOMESCO Finland

Counselling and guidance which enhance independent living

2.8

7.3

192

WW804

NOMESCO Finland

Transfer from treating institution to higher-Level care, accompanied by doctor

12.5

7.1

I33.0

ICD-10 Finland

Acute and subacute infective endocarditis

41.1

6.8

FEB10

NOMESCO Finland

Decompression and drainage of pericardium

41.1

6.8

J18.9

ICD-10 Finland

Pneumonia, unspecified

2.6

6.7

223

WX002

NOMESCO Finland

Sedation and analgesia

2.6

6.6

206

FM1CD

NOMESCO Finland

Very extensive CT of heart

71.4

6.4

I49.5

ICD-10 Finland

Sick sinus syndrome

14.7

6.4

7460B

ICD-9 Finland

Other congenital anomalies of heart, Anomalies of pulmonary valve[VITIUM VALVULAE PULMONALIS CONGENITUM CUM ATRESIA]

+∞

6.3

Q23.4

ICD-10 Finland

Hypoplastic left heart syndrome

+∞

6.3

FXA20

NOMESCO Finland

Total cardiopulmonary bypass in deep hypothermia and circulatory arrest at concurrent surgical procedure

+∞

6.3

Q21.31

ICD-10 Finland

Tetralogy of Fallot and double outlet right ventricle

+∞

6.3

7462A

ICD-9 Finland

Other congenital anomalies of heart, Ebstein's anomaly[ANOMALIA EBSTEIN]

+∞

6.3

FBJ00

NOMESCO Finland

Anastomosis to pulmonary artery from subclavian artery

+∞

6.3

7451B

ICD-9 Finland

Bulbus cordis anomalies and anomalies of cardiac septal closure, Transposition of great vessels[DOUBLE OUTLET RIGHT VENTRICLE]

+∞

6.3

74629

ICD-8 Finland

Congenital anomalies of heart, Tetralogy of Fallot

+∞

6.3

Q25.40

ICD-10 Finland

Aortic hypoplasia

+∞

6.3

5253

FHL

Cardiac lung machine

+∞

6.3

Q21.18

ICD-10 Finland

Other spedified atrial septal defect

+∞

6.3

FPH00

NOMESCO Finland

Transvenous extraction of transvenous cardiac pacemaker or cardioverter-defibrillator

+∞

6.3

Q24.9

ICD-10 Finland

Congenital malformation of heart, unspecified

+∞

6.3

5504

FHL

Subclavian pulmonary anastomosis (Blalock)

+∞

6.3

Q24.8

ICD-10 Finland

Other specified congenital malformations of heart

+∞

6.3

FB1BD

NOMESCO Finland

Extensive CT examination of arteria pulmonalis

5.1

6.2

GAA10

NOMESCO Finland

Intercostal insertion of pleural drainage tube

12.9

6.1

R07.4

ICD-10 Finland

Chest pain, unspecified

2.4

6.1

240

I50.9

ICD-10 Finland

Heart failure, unspecified

5.0

6.0

Mortality – FinRegistry

↥

Association

Association between endpoint Q17_CONGEN_MALFO_PULMONARY_TRICU_VALVES and mortality.

Females

Parameter	HR [95% CI]	p-value
Q17_CONGEN_MALFO_PULMONARY_TRICU_VALVES	3.441 [2.43, 4.87]	< 0.001
Birth year	0.995 [0.99, 1.0]	0.268

During the follow-up period (1.1.1998 — 31.12.2019), 91 out of 1682 females with Q17_CONGEN_MALFO_PULMONARY_TRICU_VALVES died.

Males

Parameter	HR [95% CI]	p-value
Q17_CONGEN_MALFO_PULMONARY_TRICU_VALVES	4.147 [3.13, 5.5]	< 0.001
Birth year	0.988 [0.98, 1.0]	0.013

During the follow-up period (1.1.1998 — 31.12.2019), 89 out of 1349 males with Q17_CONGEN_MALFO_PULMONARY_TRICU_VALVES died.

Mortality risk

Mortality risk for people of age

years, who have Q17_CONGEN_MALFO_PULMONARY_TRICU_VALVES.

N-year risk	Females	Males
1	0.287%	0.541%
5	2.239%	5.113%
10	5.248%	12.434%
15	9.974%	22.743%
20	16.615%	36.333%

Relationships between endpoints

↥

Index endpoint: Q17_CONGEN_MALFO_PULMONARY_TRICU_VALVES – Congenital malformations of pulmonary and tricuspid valves

GWS hits: 1

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

Loading data

NAME	Q17_CONGEN_MALFO_PULMONARY_TRICU_VALVES
CONTROL_EXCLUDE	Q17_CONGEN_MALFO_CIRCULATO_SYSTEM
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	Q22
HD_ICD_9
HD_ICD_8
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	Q22
COD_ICD_9
COD_ICD_8
COD_ICD_10_EXCL
COD_ICD_9_EXCL
COD_ICD_8_EXCL
OPER_NOM
OPER_HL
OPER_HP1
OPER_HP2
KELA_REIMB
KELA_REIMB_ICD
KELA_ATC_NEEDOTHER
KELA_ATC
KELA_VNRO_NEEDOTHER
KELA_VNRO
CANC_TOPO
CANC_TOPO_EXCL
CANC_MORPH
CANC_MORPH_EXCL
CANC_BEHAV

Congenital malformations of pulmonary and tricuspid valves

Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

1. Apply sex-specific rule

2. Check conditions

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

4. Check minimum number of events

5. Include endpoints

6. Filter based on genotype QC (FinnGen only)

Similar endpoints

Case counts by codes

Summary Statistics

-FinRegistry-

Key figures

-FinnGen-

Key figures

-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

CodeWAS (R11)

Matched cohort

Mortality – FinRegistry

Association

Females

Males

Mortality risk

Relationships between endpoints