Trait: cardiomyopathy

Experimental Factor Ontology (EFO) Information
Identifier EFO_0000318
Description A disease of the heart muscle or myocardium proper. Cardiomyopathies may be classified as either primary or secondary, on the basis of etiology, or on the pathophysiology of the lesion: hypertrophic, dilated, or restrictive. [NCIT: C34830]
Trait category
Cardiovascular disease
Synonyms 24 synonyms
  • CARDIOMYOPATH IN OTH DIS
  • CARDIOMYOPATHIES SECOND
  • Cardiomyopathies
  • Cardiomyopathies, Primary
  • Cardiomyopathies, Secondary
  • Cardiomyopathy (disorder)
  • Cardiomyopathy NOS
  • Cardiomyopathy NOS (disorder)
  • Cardiomyopathy in other diseases classified elsewhere
  • Cardiomyopathy, NOS
  • Cardiomyopathy, Primary
  • Cardiomyopathy, Secondary
  • Other primary cardiomyopathies
  • Other primary cardiomyopathies (disorder)
  • Other primary cardiomyopathy NOS
  • Other primary cardiomyopathy NOS (disorder)
  • PRIM CARDIOMYOPATHY NEC
  • Primary Cardiomyopathies
  • Primary Cardiomyopathy
  • Secondary Cardiomyopathies
  • Secondary Cardiomyopathy
  • [X]Cardiomyopathy in other diseases classified elsewhere
  • [X]Cardiomyopathy in other diseases classified elsewhere (disorder)
  • cardiomyopathy
Mapped terms 19 mapped terms
  • DOID:0050700
  • ICD10:I42
  • ICD10CM:I42
  • ICD9:425
  • ICD9:425.4
  • ICD9:425.9
  • MEDGEN:209232
  • MESH:D009202
  • MONDO:0004994
  • MeSH:D009202
  • MedDRA:10007636
  • NCIT:C34830
  • NCIt:C34830
  • Orphanet:167848
  • SCTID:57809008
  • SCTID:85898001
  • SNOMEDCT:85898001
  • UMLS:C0878544
  • icd11.foundation:282225286
Child trait(s) 2 child traits

Associated Polygenic Score(s)

Filter PGS by Participant Ancestry
Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
Display options:
Ancestry legend
Multi-ancestry (including European)
Multi-ancestry (excluding European)
African
East Asian
South Asian
Additional Asian Ancestries
European
Greater Middle Eastern
Hispanic or Latin American
Additional Diverse Ancestries
Not Reported
Note: This table shows all PGS for "cardiomyopathy" and any child terms of this trait in the EFO hierarchy by default.
Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution
GWAS
Dev
Eval
 Scoring File (FTP Link)
PGS000739
(HCM_GRS)
 PGP000146 |
Harper AR et al. Nat Genet (2021)
 Hypertrophic cardiomyopathy hypertrophic cardiomyopathy 27
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000739/ScoringFiles/PGS000739.txt.gz
PGS000778
(PRSHCM)
 PGP000182 |
Tadros R et al. Nat Genet (2021)
 Hypertrophic cardiomyopathy hypertrophic cardiomyopathy 20
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000778/ScoringFiles/PGS000778.txt.gz
PGS003868
(CM_LDpred2_ARB)
 PGP000501 |
Shim I et al. Nature Communications (2023)
 Cardiomyopathy cardiomyopathy 1,010,014
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003868/ScoringFiles/PGS003868.txt.gz
PGS004861
(hermes.gwama)
 PGP000608 |
Zheng SL et al. medRxiv (2023)
|Pre		 Dilated cardiomyopathy dilated cardiomyopathy 713,932
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004861/ScoringFiles/PGS004861.txt.gz
PGS004862
(hermes.mtag)
 PGP000608 |
Zheng SL et al. medRxiv (2023)
|Pre		 Dilated cardiomyopathy (MTAG) dilated cardiomyopathy 709,534
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004862/ScoringFiles/PGS004862.txt.gz

Performance Metrics

Disclaimer: The performance metrics are displayed as reported by the source studies. It is important to note that metrics are not necessarily comparable with each other. For example, metrics depend on the sample characteristics (described by the PGS Catalog Sample Set [PSS] ID), phenotyping, and statistical modelling. Please refer to the source publication for additional guidance on performance.

PGS Performance
Metric ID (PPM) 		Evaluated Score PGS Sample Set ID
(PSS) 		Performance Source Trait PGS Effect Sizes
(per SD change) 		Classification Metrics Other Metrics Covariates Included in the Model PGS Performance:
Other Relevant Information
PPM001765 PGS000739
(HCM_GRS)
 PSS000909|
Multi-ancestry (including European)|
41,597 individuals
 PGP000146 |
Harper AR et al. Nat Genet (2021)
 Reported Trait: Hypertrophic cardiomyopathy OR: 1.73 [1.63, 1.83] — — Age, gender, PCs(1-10) —
PPM001767 PGS000739
(HCM_GRS)
 PSS000910|
Multi-ancestry (including European)|
20,501 individuals
 PGP000146 |
Harper AR et al. Nat Genet (2021)
 Reported Trait: Hypertrophic cardiomyopathy carrying a pathogenic sarcomere mutation OR: 1.54 [1.39, 1.69] — — Age, gender, PCs(1-10) —
PPM001766 PGS000739
(HCM_GRS)
 PSS000908|
Multi-ancestry (including European)|
21,095 individuals
 PGP000146 |
Harper AR et al. Nat Genet (2021)
 Reported Trait: Hypertrophic cardiomyopathy in individuals who do not carry a pathogenic sarcomere mutation OR: 1.8 [1.67, 1.93] — — Age, gender, PCs(1-10) —
PPM018527 PGS000739
(HCM_GRS)
 PSS011008|
European Ancestry|
184,511 individuals
 PGP000476 |
Biddinger KJ et al. JAMA Cardiol (2022)
|Ext.		 Reported Trait: Hypertrophic cardiomyopathy OR: 1.556 [1.361, 1.778] — — — —
PPM018528 PGS000739
(HCM_GRS)
 PSS011008|
European Ancestry|
184,511 individuals
 PGP000476 |
Biddinger KJ et al. JAMA Cardiol (2022)
|Ext.		 Reported Trait: Hypertrophic cardiomyopathy in noncarriers of an HCM-ACMG rare variant OR: 1.585 [1.375, 1.828] — — — —
PPM018529 PGS000739
(HCM_GRS)
 PSS011007|
European Ancestry|
30,716 individuals
 PGP000476 |
Biddinger KJ et al. JAMA Cardiol (2022)
|Ext.		 Reported Trait: Hypertrophic cardiomyopathy OR: 1.35 [1.21, 1.51] — — — —
PPM018530 PGS000739
(HCM_GRS)
 PSS011008|
European Ancestry|
184,511 individuals
 PGP000476 |
Biddinger KJ et al. JAMA Cardiol (2022)
|Ext.		 Reported Trait: Hypertrophic cardiomyopathy HR: 1.795 [1.521, 2.117] AUROC: 0.725 [0.678, 0.771] — Age, sex, genotyping array, and PCs 1-5 —
PPM018531 PGS000739
(HCM_GRS)
 PSS011008|
European Ancestry|
184,511 individuals
 PGP000476 |
Biddinger KJ et al. JAMA Cardiol (2022)
|Ext.		 Reported Trait: Hypertrophic cardiomyopathy — AUROC: 0.821 [0.772, 0.871] — Clinical risk factors (obesity, HTN, AF, CAD), HCM-ACMG rare variant carrier status, age, sex, genotyping array, and PCs 1-5 —
PPM002016 PGS000778
(PRSHCM)
 PSS000999|
Ancestry Not Reported|
368 individuals
 PGP000182 |
Tadros R et al. Nat Genet (2021)
 Reported Trait: Clinical events in individuals with a pathogenic or likely pathogenic sarcomeric variant HR: 1.28 [1.06, 1.54]
β: 0.247 (0.095)		 — — Genetic relatedness matrix, sex Clinical events includes time to septal reduction therapy, cardiac transplantation, sustained ventricular arrhythmia, sudden cardiac death, appropriate ICD therapy or atrial fibrillation/flutter.
PPM002017 PGS000778
(PRSHCM)
 PSS001000|
Ancestry Not Reported|
368 individuals
 PGP000182 |
Tadros R et al. Nat Genet (2021)
 Reported Trait: Major clinical events in individuals with a pathogenic or likely pathogenic sarcomeric variant HR: 1.29 [1.04, 1.59]
β: 0.255 (0.108)		 — — Genetic relatedness matrix, sex Major clinical events includes time to septal reduction therapy, cardiac transplantation, sustained ventricular arrhythmia, sudden cardiac death or appropriate ICD therapy.
PPM002018 PGS000778
(PRSHCM)
 PSS001004|
Ancestry Not Reported|
368 individuals
 PGP000182 |
Tadros R et al. Nat Genet (2021)
 Reported Trait: Septal reduction therapy in individuals with a pathogenic or likely pathogenic sarcomeric variant HR: 1.36 [1.06, 1.74]
β: 0.304 (0.127)		 — — Genetic relatedness matrix, sex Septal reduction therapy includes time time to septal myectomy or alcohol septal ablation.
PPM002020 PGS000778
(PRSHCM)
 PSS001003|
Ancestry Not Reported|
194 individuals
 PGP000182 |
Tadros R et al. Nat Genet (2021)
 Reported Trait: Maximal left ventricular wall thickness indexed to body surface area (mm/m^2) in individuals with a pathogenic or likely pathogenic sarcomeric variant β: 0.731 (0.238) — — Genetic relatedness matrix Each standard deviation increase in the polgyenic risk score is associated with 0.7 mm m^-2 increase in maximal left ventricular wall thickness.
PPM002021 PGS000778
(PRSHCM)
 PSS001002|
Ancestry Not Reported|
214 individuals
 PGP000182 |
Tadros R et al. Nat Genet (2021)
 Reported Trait: Clinical events in in individuals with a pathogenic or likely pathogenic sarcomeric variant HR: 1.53 [1.05, 2.22]
β: 0.422 (0.193)		 — — Genetic relatedness matrix, sex Clinical events includes time to septal reduction therapy, cardiac transplantation, sustained ventricular arrhythmia, sudden cardiac death, appropriate ICD therapy or atrial fibrillation/flutter.
PPM002015 PGS000778
(PRSHCM)
 PSS001001|
Ancestry Not Reported|
322 individuals
 PGP000182 |
Tadros R et al. Nat Genet (2021)
 Reported Trait: Maximal left ventricular wall thickness indexed to body surface area (mm/m^2) in individuals with a pathogenic or likely pathogenic sarcomeric variant β: 0.726 (0.188) — — Genetic relatedness matrix Each standard deviation increase in the polgyenic risk score is associated with 0.7 mm m^-2 increase in maximal left ventricular wall thickness.
PPM018760 PGS003868
(CM_LDpred2_ARB)
 PSS011097|
Greater Middle Eastern Ancestry|
2,669 individuals
 PGP000501 |
Shim I et al. Nature Communications (2023)
 Reported Trait: Cardiomyopathy OR: 1.34 [1.13, 1.64] AUROC: 0.6453 [0.6086, 0.6819] — age, sex, array version, and the first 10 principal components of ancestry —
PPM021092 PGS004861
(hermes.gwama)
 PSS011521|
European Ancestry|
347,585 individuals
 PGP000608 |
Zheng SL et al. medRxiv (2023)
|Pre		 Reported Trait: Dilated cardiomyopathy OR: 1.56 AUROC: 0.7 R²: 0.048 age, age^2, sex, PC1-10 —
PPM021093 PGS004862
(hermes.mtag)
 PSS011521|
European Ancestry|
347,585 individuals
 PGP000608 |
Zheng SL et al. medRxiv (2023)
|Pre		 Reported Trait: Dilated cardiomyopathy OR: 1.76 AUROC: 0.71 R²: 0.05 age, age^2, sex, PC1-10 —

Evaluated Samples

PGS Sample Set ID
(PSS) 		Phenotype Definitions and Methods Participant Follow-up Time Sample Numbers Age of Study Participants Sample Ancestry Additional Ancestry Description Cohort(s) Additional Sample/Cohort Information
PSS000908 Cases were individuals with hypertrophic cardiomyopathy. —
[
  • 17 cases
  • , 545 controls
]
 — African unspecified — GEL, RBH-CRB —
PSS000908 Cases were individuals with hypertrophic cardiomyopathy. —
[
  • 1 cases
  • , 39 controls
]
 — Other admixed ancestry Ad Mixed American GEL, RBH-CRB —
PSS000908 Cases were individuals with hypertrophic cardiomyopathy. —
[
  • 0 cases
  • , 126 controls
]
 — East Asian — GEL, RBH-CRB —
PSS000908 Cases were individuals with hypertrophic cardiomyopathy. —
[
  • 1,083 cases
  • , 16,072 controls
]
 — European — GEL, RBH-CRB —
PSS000908 Cases were individuals with hypertrophic cardiomyopathy. —
[
  • 53 cases
  • , 1,510 controls
]
 — South Asian — GEL, RBH-CRB —
PSS000908 Cases were individuals with hypertrophic cardiomyopathy. —
[
  • 26 cases
  • , 1,623 controls
]
 — Not reported — GEL, RBH-CRB —
PSS000909 Cases were individuals with hypertrophic cardiomyopathy. —
[
  • 17 cases
  • , 1,098 controls
]
 — African unspecified — GEL, RBH-CRB —
PSS000909 Cases were individuals with hypertrophic cardiomyopathy. —
[
  • 1 cases
  • , 88 controls
]
 — Other admixed ancestry Ad Mixed American GEL, RBH-CRB —
PSS000909 Cases were individuals with hypertrophic cardiomyopathy. —
[
  • 2 cases
  • , 265 controls
]
 — East Asian — GEL, RBH-CRB —
PSS000909 Cases were individuals with hypertrophic cardiomyopathy. In the individuals recruited from the Netherlands, this was identified using current diagnostic criteria(eft ventricular wall thickness ≥15mm or ≥13mm in presence of family history) —
[
  • 1,653 cases
  • , 32,170 controls
]
 — European — GEL, RBH-CRB —
PSS000909 Cases were individuals with hypertrophic Cardiomyopathy. —
[
  • 62 cases
  • , 2,974 controls
]
 — South Asian — GEL, RBH-CRB —
PSS000909 Cases were individuals with hypertrophic cardiomyopathy. —
[
  • 34 cases
  • , 3,233 controls
]
 — Not reported — GEL, RBH-CRB —
PSS000910 Cases were individuals with hypertrophic cardiomyopathy. —
[
  • 0 cases
  • , 559 controls
]
 — African unspecified — GEL, RBH-CRB —
PSS000910 Cases were individuals with hypertrophic cardiomyopathy. —
[
  • 0 cases
  • , 38 controls
]
 — Other admixed ancestry Ad Mixed American GEL, RBH-CRB —
PSS000910 Cases were individuals with hypertrophic cardiomyopathy. —
[
  • 2 cases
  • , 132 controls
]
 — East Asian — GEL, RBH-CRB —
PSS000910 Cases were individuals with hypertrophic cardiomyopathy. —
[
  • 569 cases
  • , 16,120 controls
]
 — European — GEL, RBH-CRB —
PSS000910 Cases were individuals with hypertrophic cardiomyopathy. —
[
  • 9 cases
  • , 1,441 controls
]
 — South Asian — GEL, RBH-CRB —
PSS000910 Cases were individuals with hypertrophic cardiomyopathy. —
[
  • 8 cases
  • , 1,623 controls
]
 — Not reported — GEL, RBH-CRB —
PSS011097 — — 2,669 individuals — Greater Middle Eastern (Middle Eastern, North African or Persian)
(Arab)		 — NR N total after excluding missing values = 2,553
PSS011007 HCM was defined as having an ICD-10 code of I42.1 or I42.2, in addition to a mention of “hypertrophic cardiomyopathy,” “hypertrophic obstructive cardiomyopathy,” “HCM,” or “HOCM” — 30,716 individuals,
45.37 % Male samples
 Mean = 57.23 years European — MGBB —
PSS011008 HCM cases were identified by the presence of International Statistical Classification of Diseases and Related Health Problems, Tenth Revision (ICD-10), billing code I42.1 (hypertrophic obstructive cardiomyopathy) or I42.2 (other hypertrophic cardiomyopathy) — 184,511 individuals,
45.35 % Male samples
 Mean = 56.51 years European — UKB —
PSS011521 — —
[
  • 755 cases
  • , 346,830 controls
]
,
45.8 % Male samples
 Mean = 69.8 years European — UKB —
PSS000999 All individuals were carriers of a pathogenic or likely pathogenic variant (MYBPC3 truncating variant, MYBPC3 non-truncating variant, MYH7 variant, MYL2 variant, other genetic variant). Cases included individuals who had experienced a clinical event, defined as: time to septal reduction therapy, cardiac transplantation, sustained ventricular arrhythmia, sudden cardiac death, appropriate ICD therapy or atrial fibrillation/flutter. —
[
  • 122 cases
  • , 246 controls
]
 — Not reported — ERSPC —
PSS001000 All individuals were carriers of a pathogenic or likely pathogenic variant (MYBPC3 truncating variant, MYBPC3 non-truncating variant, MYH7 variant, MYL2 variant, other genetic variant). Cases included individuals who had experienced a major ventricular arrhythmia, defined as: time to sustained ventricular arrhythmia, appropriate ICD therapy or sudden cardiac death. —
[
  • 30 cases
  • , 338 controls
]
 — Not reported — ERSPC —
PSS001001 All individuals were carriers of a pathogenic or likely pathogenic variant (MYBPC3 truncating variant, MYBPC3 non-truncating variant, MYH7 variant, MYL2 variant, other genetic variant). The primary outcome of maximal left ventricular wall thickness is defined as maxLVWT indexed to body surface area (BSA) on last available CMR or TTE prior to septal reduction therapy and cardiac transplantation. LVWT from CMR used whenever available unless TTE performed more than 5 years after last CMR. — 322 individuals — Not reported — ERSPC —
PSS001002 All individuals were non-proband carriers of a pathogenic or likely pathogenic variant (MYBPC3 truncating variant, MYBPC3 non-truncating variant, MYH7 variant, MYL2 variant, other genetic variant). Cases included individuals who had experienced a clinical event, defined as: time to septal reduction therapy, cardiac transplantation, sustained ventricular arrhythmia, sudden cardiac death, appropriate ICD therapy or atrial fibrillation/flutter. —
[
  • 33 cases
  • , 181 controls
]
 — Not reported — ERSPC —
PSS001003 All individuals were non-proband carriers of a pathogenic or likely pathogenic variant (MYBPC3 truncating variant, MYBPC3 non-truncating variant, MYH7 variant, MYL2 variant, other genetic variant). The primary outcome of maximal left ventricular wall thickness (maxLVWT) is defined as maxLVWT indexed to body surface area (BSA) on last available CMR or TTE prior to septal reduction therapy and cardiac transplantation. LVWT from CMR used whenever available unless TTE performed more than 5 years after last CMR. — 194 individuals — Not reported — ERSPC —
PSS001004 All individuals were carriers of a pathogenic or likely pathogenic variant (MYBPC3 truncating variant, MYBPC3 non-truncating variant, MYH7 variant, MYL2 variant, other genetic variant). Cases included individuals who had experienced septal reduction therapy, defined as: time to septal myectomy or alcohol septal ablation. —
[
  • 66 cases
  • , 302 controls
]
 — Not reported — ERSPC —