Risteys · Q17_OTHER_CONGEN_MALFO

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 — Q24 Cause of death: ICD-10 — Q24 2 out of 7 registries used, show all original rules.	246
4. Check minimum number of events None	246
5. Include endpoints None	246
6. Filter based on genotype QC (FinnGen only)	246

Summary Statistics

↥

-FinRegistry-

Key figures

	All	Female	Male
Number of individuals
Whole population	2325	1187	1135
Only index persons	1745	915	830
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	10.16	13.47	6.64
Only index persons	16.61	21.73	10.97

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	246	145	101
Unadjusted period prevalence (%)	0.05	0.05	0.04
Median age at first event (years)	20.25	23.75	15.23

-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
223: Matched controls
2228

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

FM1BE

NOMESCO Finland

Cardiac ultrasound examination through oesophagus

42.7

58.9

FXA00

NOMESCO Finland

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

52.5

56.6

201

Kela drug reimbursment

Chronic cardiac insufficiency

38.5

53.6

Q24.6

ICD-10 Finland

Congenital heart block

+∞

53.3

Q24.4

ICD-10 Finland

Congenital subaortic stenosis

+∞

49.9

FM1AE

NOMESCO Finland

Standard cardiac ultrasound examination

12.8

47.2

118

FM1EE

NOMESCO Finland

Extensive structural and functional ultrasound examination of heart

10.1

47.1

111

198

FN1BC

NOMESCO Finland

Extensive angiography of hear and/or coronary arteries

33.5

42.8

XF400

NOMESCO Finland

ECG with 12 standard connections

8.5

39.5

103

205

XF404

NOMESCO Finland

Ambulatory ECG

14.3

39.1

B01AA03

ATC

warfarin; systemic

13.2

38.1

C03CA01

ATC

furosemide; systemic

9.5

37.3

138

TFC99

NOMESCO Finland

Catheterisation of heart with other procedure

117.5

37.1

Q24.8

ICD-10 Finland

Other specified congenital malformations of heart

+∞

36.5

FM2CE

NOMESCO Finland

17.0

35.5

Q24.0

ICD-10 Finland

Dextrocardia

+∞

35.3

Q21.08

ICD-10 Finland

Other specifed ventricular septal defect

+∞

35.3

Z45.0

ICD-10 Finland

Adjustment and management of cardiac devices

42.7

34.2

C03DA01

ATC

spironolactone; oral

13.7

33.3

Q21.00

ICD-10 Finland

Multiple ventricular septal defect

+∞

32.0

XFP20

NOMESCO Finland

Check up of cardiac pacemaker

21.1

30.9

Q21.10

ICD-10 Finland

Persistent ostium secundum

+∞

29.9

Q21.09

ICD-10 Finland

Ventricular septal defect NOS

+∞

29.9

ZXE20

NOMESCO Finland

More than three and less than five hours

7.3

28.5

150

Z2221

NOMESCO Finland

Medical doctor

5.1

27.5

118

403

FN1AC

NOMESCO Finland

Angiography of heart and/or coronary arteries

8.8

27.4

Catheterization and pressure measurement of the left side of the heart

110.5

27.4

Z95.0

ICD-10 Finland

Presence of electronic cardiac devices

21.9

27.3

Congenital heart failure surgery

+∞

26.6

GD1AA

NOMESCO Finland

Thorax X-ray examination

4.8

26.5

127

479

ZXD10

NOMESCO Finland

Scheduled procedure

4.6

25.6

133

538

Q24.3

ICD-10 Finland

Pulmonary infundibular stenosis

+∞

25.5

Q24.9

ICD-10 Finland

Congenital malformation of heart, unspecified

+∞

25.5

TPH07

NOMESCO Finland

Cathetrisation of artery

7.8

25.2

107

XF402

NOMESCO Finland

ECG with work load test

10.5

25.1

FM1DG

NOMESCO Finland

Very extensive MRI examination of heart with high intesity magnet

63.6

24.7

XF622

NOMESCO Finland

Measurement of minute volume of heart

63.6

24.7

I44.2

ICD-10 Finland

Atrioventricular block, complete

41.3

23.6

Catheterization and pressure measurement of the right side of the heart

255.0

23.1

Q25.0

ICD-10 Finland

Patent ductus arteriosus

+∞

22.3

Q20.48

ICD-10 Finland

Single ventricle

+∞

22.3

Q25.1

ICD-10 Finland

Coarctation of aorta

+∞

22.3

ZXE10

NOMESCO Finland

More than one and less than three hours

4.2

21.5

115

453

GD1UA

NOMESCO Finland

Thorax X-ray examination outside radiological department

6.0

21.4

142

TPH15

NOMESCO Finland

Insertion of central venous catheter through external or internal jugular vein

8.3

21.1

C01AA05

ATC

digoxin; systemic

17.4

21.0

Q22.1

ICD-10 Finland

Congenital pulmonary valve stenosis

+∞

20.1

GAE10

NOMESCO Finland

Closure of previous incision of chest wall

115.3

19.9

WX408

NOMESCO Finland

General anesthesy, balanced

4.0

19.3

103

395

Q20.3

ICD-10 Finland

Discordant ventriculoarterial connection

+∞

19.0

Q24.58

ICD-10 Finland

Malformation of coronary vessels

+∞

19.0

FN1BB

NOMESCO Finland

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

57.6

18.3

FPF20

NOMESCO Finland

Implantation of epicardial pacemaker with atrial and ventricular electrodes

+∞

17.9

FPE30

NOMESCO Finland

Replacement of transvenous cardiac pacemaker pulse generator

54.6

17.3

ZXD05

NOMESCO Finland

Urgent procedure

3.7

17.1

100

403

207

Kela drug reimbursment

Chronic arrhythmias

8.6

17.1

FXA10

NOMESCO Finland

Total cardiopulmonary bypass in deep hypothermia at concurrent surgical procedure

+∞

16.9

TFC00

NOMESCO Finland

Catheterisation of right atrium or ventricle

43.7

16.6

WX404

NOMESCO Finland

Intravenous generell anesthesy

3.8

16.2

318

ZXE30

NOMESCO Finland

More than five and less than seven hours

7.5

16.1

C07AB07

ATC

bisoprolol; oral

3.7

16.0

322

Z98.8

ICD-10 Finland

Other specified postsurgical states

28.7

15.9

Q24.50

ICD-10 Finland

Congenital coronary artery-coronary fistula

+∞

15.8

Q23.11

ICD-10 Finland

Bicuspid aortic valve

+∞

15.8

XF600

NOMESCO Finland

Bloodpressure measurement

5.5

15.4

105

FM1DE

NOMESCO Finland

Doppler ultrasound examination of heart

6.1

15.1

Q23.4

ICD-10 Finland

Hypoplastic left heart syndrome

+∞

14.7

Q20.1

ICD-10 Finland

Double outlet right ventricle

+∞

14.7

FN1CC

NOMESCO Finland

Very extensive angiography of heart and/or coronary arteries

24.2

14.5

WX882

NOMESCO Finland

High dependency care

5.6

13.9

ZXD30

NOMESCO Finland

Difficulties in perfomrming procedure

6.7

13.9

G04BE03

ATC

sildenafil; oral

80.2

13.7

FDF05

NOMESCO Finland

Percutaneous transluminal occlusion of aorto-pulmonary collaterals

+∞

13.7

Q25.40

ICD-10 Finland

Aortic hypoplasia

+∞

13.7

FBE35

NOMESCO Finland

Percutaneous transluminal angioplasty of pulmonary artery with insertion of stent

+∞

13.7

R4110

NOMESCO Finland

Physiotherapy

3.3

13.6

371

R07.4

ICD-10 Finland

Chest pain, unspecified

3.8

13.1

205

Z3231

NOMESCO Finland

Registered nurse

3.0

12.9

104

504

WX704

NOMESCO Finland

Intubation

6.1

11.9

FAE10

NOMESCO Finland

Bidirectional anastomosis between superior vena cava and pulmonary artery

+∞

11.6

FBE32

NOMESCO Finland

Percutaneous transluminal angioplasty of pulmonary artery

+∞

11.6

I50.9

ICD-10 Finland

Heart failure, unspecified

6.5

11.5

ZXE40

NOMESCO Finland

More than seven and less than nine hours

9.0

11.1

ZXE00

NOMESCO Finland

One hour or less

2.6

10.7

115

646

I47.2

ICD-10 Finland

Ventricular tachycardia

15.2

10.7

C07AB02

ATC

metoprolol; systemic

4.0

10.5

129

FPE20

NOMESCO Finland

Implantation of transvenous cardiac pacemaker with atrial and ventricular electrodes

11.4

10.5

FAE30

NOMESCO Finland

Total cavo-pulmonary connection using fenestrated patch

+∞

10.5

FMD00

NOMESCO Finland

Replacement of aortic valve using mechanical prosthesis

+∞

10.5

Q25.41

ICD-10 Finland

Persistent right-sided aortic arch

+∞

10.5

FFC22

NOMESCO Finland

Percutaneous transluminal closure of ostium secundum type ASD

+∞

10.5

FHB50

NOMESCO Finland

Transatrial closure of VSD using patch

+∞

10.5

FDA00

NOMESCO Finland

Aortoplasty and aorto-pulmonary shunt for HLHS

+∞

10.5

FXA20

NOMESCO Finland

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

+∞

10.5

Q23.0

ICD-10 Finland

Congenital stenosis of aortic valve

+∞

10.5

WX700

NOMESCO Finland

Respiratory and circulatory monitoring

3.4

10.5

207

RS224

NOMESCO Finland

14.0

10.3

JN3AE

NOMESCO Finland

Abdominal ultrasound examination

3.3

10.3

210

FPH00

NOMESCO Finland

Transvenous extraction of transvenous cardiac pacemaker or cardioverter-defibrillator

+∞

9.4

FBE10

NOMESCO Finland

Expansion or reconstruction of pulmonary artery using patch

+∞

9.4

Initial pacemaker installation

+∞

9.4

Q22.0

ICD-10 Finland

Pulmonary valve atresia

+∞

9.4

Q21.11

ICD-10 Finland

Paten or persistent foramen ovale

+∞

9.4

Q20.40

ICD-10 Finland

Double inlet left ventricle

+∞

9.4

WX892

NOMESCO Finland

Monitored bed care

4.4

9.1

I35.1

ICD-10 Finland

Aortic (valve) insufficiency

10.1

8.9

Z2446

NOMESCO Finland

Social worker

3.4

8.5

147

FM1CD

NOMESCO Finland

Very extensive CT of heart

93.4

8.5

FPF00

NOMESCO Finland

Implantation of epicardial pacemaker with ventricular electrode

93.4

8.5

C09AA02

ATC

enalapril; systemic

3.7

8.4

113

FAE00

NOMESCO Finland

Anastomosis to pulmonary artery from superior vena cava

+∞

8.4

FBJ10

NOMESCO Finland

Anastomosis to pulmonary artery from subclavian artery with interposition graft

+∞

8.4

FEB10

NOMESCO Finland

Decompression and drainage of pericardium

+∞

8.4

4260A

ICD-9 Finland

Conduction disorders, Atrioventricular block, complete

+∞

8.4

Q21.9

ICD-10 Finland

Congenital malformation of cardiac septum, unspecified

+∞

8.4

Q26.1

ICD-10 Finland

Persistent left superior vena cava

+∞

8.4

Q21.21

ICD-10 Finland

Atrioventricular duct

+∞

8.4

Q20.5

ICD-10 Finland

Discordant atrioventricular connection

+∞

8.4

Q21.0

ICD-10 Finland

Ventricular septal defect

+∞

8.4

ZXE50

NOMESCO Finland

More than nine and less than 12 hours

12.3

8.2

GAA10

NOMESCO Finland

Intercostal insertion of pleural drainage tube

18.0

8.2

I42.0

ICD-10 Finland

Dilated cardiomyopathy

10.6

8.2

C07AA07

ATC

sotalol; systemic

23.0

8.1

I48

ICD-10 Finland

Atrial fibrillation and flutter

4.0

8.0

Z01.8

ICD-10 Finland

Other specified special examinations

2.8

7.8

239

ZXA05

NOMESCO Finland

Left side

2.8

7.8

220

TFP20

NOMESCO Finland

Cardiodefibrillation

7.1

7.8

504

Kela drug reimbursment

Conditions requiring daily forced enteral nutrition

6.9

7.6

7AX01

NOMESCO Finland

82.7

7.5

Q23.10

ICD-10 Finland

Congenital insufficiency of aortic valve

+∞

7.3

74619

ICD-8 Finland

Congenital anomalies of heart, Transposition of great vessels

+∞

7.3

Q25.3

ICD-10 Finland

Stenosis of aorta

+∞

7.3

FLE96

NOMESCO Finland

Other repair of outlet obstruction of left ventricle

+∞

7.3

Q25.6

ICD-10 Finland

Stenosis of pulmonary artery

+∞

7.3

ZX199

NOMESCO Finland

Other rote

16.4

7.3

Z94.1

ICD-10 Finland

Heart transplant status

31.1

7.2

O99.4

ICD-10 Finland

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

31.1

7.2

XFE00

NOMESCO Finland

Epicardial ultrasonography

10.5

7.1

I50.1

ICD-10 Finland

Left ventricular failure

10.5

7.1

ZX120

NOMESCO Finland

Intravenous

3.6

7.0

Z01.0

ICD-10 Finland

Examination of eyes and vision

2.6

6.9

242

R50.9

ICD-10 Finland

Fever, unspecified

2.6

6.9

255

ZXD31

NOMESCO Finland

Major difficulties in performing procedure

5.5

6.8

I49.5

ICD-10 Finland

Sick sinus syndrome

17.3

6.8

A09

ICD-10 Finland

Other gastroenteritis and colitis of infectious and unspecified origin

2.5

6.7

276

WX402

NOMESCO Finland

General anaesthesia

2.5

6.7

254

JDB10

NOMESCO Finland

Percutaneous gastrostomy

12.8

6.7

C01BD01

ATC

amiodarone; systemic

12.8

6.7

Z3226

NOMESCO Finland

Physiotherapist

2.4

6.6

308

TPH04

NOMESCO Finland

Cathetrisation of vein

2.6

6.6

222

FM1BD

NOMESCO Finland

Extensive CT of heart

71.8

6.5

602

Kela drug reimbursment

Children's severe malnutrition

5.7

6.3

FDJ00

NOMESCO Finland

End to end reconstruction of aorta for coarctation

+∞

6.3

Q26.8

ICD-10 Finland

Other congenital malformations of great veins

+∞

6.3

Q21.19

ICD-10 Finland

Atrial septal defect NOS

+∞

6.3

FLE00

NOMESCO Finland

Excision of subvalvular membrane of left ventricle

+∞

6.3

1EA01

NOMESCO Finland

+∞

6.3

Q89.30

ICD-10 Finland

Situs inversus with dextrocardia

+∞

6.3

I45.8

ICD-10 Finland

Other specified conduction disorders

+∞

6.3

74639

ICD-8 Finland

Congenital anomalies of heart, Defectus septi ventriculorum

+∞

6.3

FFK20

NOMESCO Finland

Atrio-pulmonary anastomosis

+∞

6.3

Angiography of the heart and coronary arteries

8.0

6.2

R2130

NOMESCO Finland

Counselling and guidance which enhance independent living

2.9

6.2

147

WX872

NOMESCO Finland

Intensive care

7.0

6.1

XX3BT

NOMESCO Finland

Other labeling with X-ray guidance

9.0

6.1

I34.09

ICD-10 Finland

Mitral (valve) insufficiency

7.6

6.0

Mortality – FinRegistry

↥

Association

Association between endpoint Q17_OTHER_CONGEN_MALFO_HEART and mortality.

Females

Parameter	HR [95% CI]	p-value
Q17_OTHER_CONGEN_MALFO_HEART	2.577 [1.84, 3.61]	< 0.001
Birth year	0.998 [0.99, 1.01]	0.577

During the follow-up period (1.1.1998 — 31.12.2019), 73 out of 1004 females with Q17_OTHER_CONGEN_MALFO_HEART died.

Males

Parameter	HR [95% CI]	p-value
Q17_OTHER_CONGEN_MALFO_HEART	2.584 [1.86, 3.59]	< 0.001
Birth year	0.985 [0.98, 0.99]	0.002

During the follow-up period (1.1.1998 — 31.12.2019), 71 out of 936 males with Q17_OTHER_CONGEN_MALFO_HEART died.

Mortality risk

Mortality risk for people of age

years, who have Q17_OTHER_CONGEN_MALFO_HEART.

N-year risk	Females	Males
1	0.232%	0.548%
5	1.526%	2.633%
10	3.708%	6.778%
15	7.36%	13.206%
20	13.075%	20.453%

Relationships between endpoints

↥

Index endpoint: Q17_OTHER_CONGEN_MALFO_HEART – Other congenital malformations of heart

GWS hits: 2

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_OTHER_CONGEN_MALFO_HEART
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	Q24
HD_ICD_9
HD_ICD_8
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	Q24
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

Other congenital malformations of heart

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