Hypertrophic cardiomyopathy

I9_HYPERTROCARDMYOP

hypertrophic cardiomyopathy: A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract.

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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:

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

1301

4. Check minimum number of events

None

1301

5. Include endpoints

None

1301

6. Filter based on genotype QC (FinnGen only)

1245

Control definitions (FinnGen only)

Controls for this endpoint are individuals that are not cases.

Extra metadata

First used in FinnGen datafreeze DF3

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 9589 3813 5697
Only index persons 8026 3216 4810
Unadjusted period prevalence (%)
Whole population 0.14 0.11 0.16
Only index persons 0.16 0.12 0.18
Median age at first event (years)
Whole population 62.13 65.75 59.66
Only index persons 61.60 64.96 59.35

-FinnGen-

Key figures

All Female Male
Number of individuals 1245 509 736
Unadjusted period prevalence (%) 0.30 0.20 0.37
Median age at first event (years) 60.43 59.36 61.17

-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 I9_HYPERTROCARDMYOP and mortality.

Females

Parameter HR [95% CI] p-value
I9_HYPERTROCARDMYOP 2.278 [2.01, 2.58] < 0.001
Birth year 0.992 [0.98, 1.0] 0.066

During the follow-up period (1.1.1998 — 31.12.2019), 1042 out of 3023 females with I9_HYPERTROCARDMYOP died.

Males

Parameter HR [95% CI] p-value
I9_HYPERTROCARDMYOP 2.279 [2.02, 2.57] < 0.001
Birth year 0.99 [0.98, 1.0] 0.039

During the follow-up period (1.1.1998 — 31.12.2019), 1466 out of 4413 males with I9_HYPERTROCARDMYOP died.

Mortality risk

Mortality risk for people of age

years, who have I9_HYPERTROCARDMYOP.

N-year risk Females Males
1 0.198% 0.512%
5 1.152% 3.223%
10 3.025% 7.759%
15 5.527% 14.259%
20 10.037% 22.336%

Relationships between endpoints

Index endpoint: I9_HYPERTROCARDMYOP – Hypertrophic cardiomyopathy

GWS hits: 21

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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