Congenital malformations of heart and great arteries

CONGEN_HEART_ARTER

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 Q20, Q21, Q22, Q23, Q24, Q25
  • Hospital discharge: ICD-9 745|746|747[0-3]
  • Hospital discharge: ICD-8 746|747[0-3]
  • Cause of death: ICD-10 Q20, Q21, Q22, Q23, Q24, Q25
  • Cause of death: ICD-9 745|746|747[0-3]
  • Cause of death: ICD-8 746|747[0-3]

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

4993

4. Check minimum number of events

None

4993

5. Include endpoints

None

4993

6. Filter based on genotype QC (FinnGen only)

4771

Control definitions (FinnGen only)

Controls for this endpoint are individuals that are not cases.

Extra metadata

First used in FinnGen datafreeze DF2

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 68879 34201 34478
Only index persons 46707 23175 23532
Unadjusted period prevalence (%)
Whole population 0.97 0.98 0.96
Only index persons 0.88 0.85 0.90
Median age at first event (years)
Whole population 1.62 1.26 1.74
Only index persons 6.90 6.40 7.40

-FinnGen-

Key figures

All Female Male
Number of individuals 4771 2466 2305
Unadjusted period prevalence (%) 1.06 0.97 1.16
Median age at first event (years) 31.87 25.64 38.53

-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 CONGEN_HEART_ARTER and mortality.

Females

Parameter HR [95% CI] p-value
CONGEN_HEART_ARTER 1.809 [1.54, 2.13] < 0.001
Birth year 0.996 [0.98, 1.01] 0.586

During the follow-up period (1.1.1998 — 31.12.2019), 971 out of 23516 females with CONGEN_HEART_ARTER died.

Males

Parameter HR [95% CI] p-value
CONGEN_HEART_ARTER 1.62 [1.38, 1.9] < 0.001
Birth year 0.986 [0.98, 1.0] 0.004

During the follow-up period (1.1.1998 — 31.12.2019), 1043 out of 23241 males with CONGEN_HEART_ARTER died.

Mortality risk

Mortality risk for people of age

years, who have CONGEN_HEART_ARTER.

N-year risk Females Males
1 0.178% 0.314%
5 1.067% 1.74%
10 2.854% 4.484%
15 5.321% 8.146%
20 9.593% 14.186%

Relationships between endpoints

Index endpoint: CONGEN_HEART_ARTER – Congenital malformations of heart and great arteries

GWS hits: 5

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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