Congenital malformations of great arteries

Q17_CONGEN_MALFO_GREAT_ARTERIES

Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

473681

1. Apply sex-specific rule

None

473681

2. Check conditions

None

473681

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

Registry filters:

  • Hospital discharge: ICD-10 Q25
  • Cause of death: ICD-10 Q25

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

727

4. Check minimum number of events

None

727

5. Include endpoints

None

727

6. Filter based on genotype QC (FinnGen only)

687

Control definitions (FinnGen only)

Extra metadata

Level in the ICD hierarchy 3
First used in FinnGen datafreeze DF4
Parent code in ICD-10 Q2
Name in latin Malformationes congenitae arteriarum magnarum

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 11820 5910 5895
Only index persons 7116 3524 3592
Unadjusted period prevalence (%)
Whole population 0.17 0.17 0.16
Only index persons 0.13 0.13 0.14
Median age at first event (years)
Whole population 0.49 0.43 0.38
Only index persons 3.34 3.12 3.56

-FinnGen-

Key figures

All Female Male
Number of individuals 687 355 332
Unadjusted period prevalence (%) 0.15 0.14 0.17
Median age at first event (years) 13.12 12.31 13.99

-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

Mortality – FinRegistry

Association

Association between endpoint Q17_CONGEN_MALFO_GREAT_ARTERIES and mortality.

Females

Parameter HR [95% CI] p-value
Q17_CONGEN_MALFO_GREAT_ARTERIES 3.101 [2.4, 4.0] < 0.001
Birth year 0.997 [0.99, 1.01] 0.421

During the follow-up period (1.1.1998 — 31.12.2019), 246 out of 5292 females with Q17_CONGEN_MALFO_GREAT_ARTERIES died.

Males

Parameter HR [95% CI] p-value
Q17_CONGEN_MALFO_GREAT_ARTERIES 2.705 [2.21, 3.31] < 0.001
Birth year 0.985 [0.98, 0.99] 0.003

During the follow-up period (1.1.1998 — 31.12.2019), 278 out of 5278 males with Q17_CONGEN_MALFO_GREAT_ARTERIES died.

Mortality risk

Mortality risk for people of age

years, who have Q17_CONGEN_MALFO_GREAT_ARTERIES.

N-year risk Females Males
1 0.375% 0.496%
5 1.882% 2.813%
10 4.585% 7.174%
15 8.942% 13.541%
20 15.7% 22.229%

Relationships between endpoints

Index endpoint: Q17_CONGEN_MALFO_GREAT_ARTERIES – Congenital malformations of great arteries

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
FinnGen
loading spinner Loading data