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Cardiomyopathy, Hypertrophic obstructive

DOID EFO Endpoint Browser PheWeb

I9_CARDMYOHYP

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

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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 — I42.1
  • Hospital discharge: ICD-9 — 4251A
  • Hospital discharge: ICD-8 — 42500
  • Cause of death: ICD-10 — I42.1
  • Cause of death: ICD-9 — 4251A
  • Cause of death: ICD-8 — 42500

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

634

4. Check minimum number of events

None

634

5. Include endpoints

None

634

6. Filter based on genotype QC (FinnGen only)

608

Control definitions (FinnGen only)

Control exclude I9_OTHHEART

Extra metadata

Level in the ICD hierarchy 4
First used in FinnGen datafreeze DF5
Parent code in ICD-10 I42
Name in latin Cardiomyopathia hypertrophica obstructiva

Case counts by codes

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FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

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-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 5095 2157 2870
Only index persons 3542 1521 2021
Unadjusted period prevalence (%)
Whole population 0.07 0.06 0.08
Only index persons 0.07 0.06 0.08
Median age at first event (years)
Whole population 59.89 63.64 56.99
Only index persons 58.98 62.46 56.35

-FinnGen-

Key figures

All Female Male
Number of individuals 608 255 353
Unadjusted period prevalence (%) 0.14 0.10 0.18
Median age at first event (years) 58.50 58.86 58.24

-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

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Association

Association between endpoint I9_CARDMYOHYP and mortality.

Females

Parameter HR [95% CI] p-value
I9_CARDMYOHYP 2.125 [1.83, 2.47] < 0.001
Birth year 0.993 [0.98, 1.0] 0.105

During the follow-up period (1.1.1998 — 31.12.2019), 446 out of 1326 females with I9_CARDMYOHYP died.

Males

Parameter HR [95% CI] p-value
I9_CARDMYOHYP 2.113 [1.81, 2.47] < 0.001
Birth year 0.988 [0.98, 1.0] 0.012

During the follow-up period (1.1.1998 — 31.12.2019), 581 out of 1732 males with I9_CARDMYOHYP died.

Mortality risk

Mortality risk for people of age

years, who have I9_CARDMYOHYP.

N-year risk Females Males
1 0.224% 0.382%
5 1.246% 2.525%
10 3.069% 6.487%
15 5.663% 11.863%
20 9.796% 20.165%

Relationships between endpoints

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Index endpoint: I9_CARDMYOHYP – Cardiomyopathy, Hypertrophic obstructive

GWS hits: 14

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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