Congenital malformations of cardiac chambers and connections

Q17_CONGEN_MALFO_CARDIAC_CHAMB_CONNECTIO

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
  • Cause of death: ICD-10 Q20

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

200

4. Check minimum number of events

None

200

5. Include endpoints

None

200

6. Filter based on genotype QC (FinnGen only)

187

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 loculorum et connectionum cordis

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 1715 717 996
Only index persons 1148 491 657
Unadjusted period prevalence (%)
Whole population 0.02 0.02 0.03
Only index persons 0.02 0.02 0.03
Median age at first event (years)
Whole population 2.36 3.16 1.67
Only index persons 8.28 9.82 7.14

-FinnGen-

Key figures

All Female Male
Number of individuals 187 75 112
Unadjusted period prevalence (%) 0.05 0.03 0.06
Median age at first event (years) 7.18 6.86 7.39

-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

Mortality – FinRegistry

Association

Association between endpoint Q17_CONGEN_MALFO_CARDIAC_CHAMB_CONNECTIO and mortality.

Females

Parameter HR [95% CI] p-value
Q17_CONGEN_MALFO_CARDIAC_CHAMB_CONNECTIO 9.355 [4.38, 19.97] < 0.001
Birth year 0.998 [0.99, 1.01] 0.586

During the follow-up period (1.1.1998 — 31.12.2019), 74 out of 576 females with Q17_CONGEN_MALFO_CARDIAC_CHAMB_CONNECTIO died.

Males

Parameter HR [95% CI] p-value
Q17_CONGEN_MALFO_CARDIAC_CHAMB_CONNECTIO 7.222 [4.72, 11.04] < 0.001
Birth year 0.985 [0.98, 0.99] 0.002

During the follow-up period (1.1.1998 — 31.12.2019), 88 out of 760 males with Q17_CONGEN_MALFO_CARDIAC_CHAMB_CONNECTIO died.

Mortality risk

Mortality risk for people of age

years, who have Q17_CONGEN_MALFO_CARDIAC_CHAMB_CONNECTIO.

N-year risk Females Males
1 0.913% 1.304%
5 6.522% 6.938%
10 15.52% 17.531%
15 25.751% 31.095%
20 40.699% 46.393%

Relationships between endpoints

Index endpoint: Q17_CONGEN_MALFO_CARDIAC_CHAMB_CONNECTIO – Congenital malformations of cardiac chambers and connections

GWS hits: -

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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