Congenital malformations of pulmonary and tricuspid valves

Q17_CONGEN_MALFO_PULMONARY_TRICU_VALVES

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 Q22
  • Cause of death: ICD-10 Q22

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

261

4. Check minimum number of events

None

261

5. Include endpoints

None

261

6. Filter based on genotype QC (FinnGen only)

242

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 valvae (trunci) pulmonalis et valvae tricuspidalis

Similar endpoints

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 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 242 141 101
Unadjusted period prevalence (%) 0.05 0.06 0.05
Median age at first event (years) 10.37 14.22 5.00

-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_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
FinnGen
loading spinner Loading data