Trait: hypertrophic cardiomyopathy

Experimental Factor Ontology (EFO) Information
Identifier EFO_0000538
Description 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. [NCIT: C34449]
Trait category
Cardiovascular disease
Synonyms 38 synonyms
  • Asymmetric Septal Hypertrophies
  • Asymmetric Septal Hypertrophy
  • Cardiomyopathies, Hypertrophic
  • Cardiomyopathies, Hypertrophic Obstructive
  • Cardiomyopathy, Hypertrophic Obstructive
  • Cardiomyopathy, hypertrophic
  • HCM
  • HCM - Hypertrophic cardiomyopathy
  • HOCM - Hypertrophic obstructive cardiomyopathy
  • HYPERTR OBSTR CARDIOMYOP
  • Hypertrophic Cardiomyopathies
  • Hypertrophic Obstructive Cardiomyopathies
  • Hypertrophic Obstructive Cardiomyopathy
  • Hypertrophic cardiomyopathy (disorder)
  • Hypertrophic obstructive cardiomyopathy (disorder)
  • Hypertrophies, Asymmetric Septal
  • Hypertrophy, Asymmetric Septal
  • IDIOPATHIC HYPERTROPHIC SUBVALV STENOSIS
  • IHSS
  • IHSSs
  • Idiopathic Hypertrophic Subaortic Stenosis
  • Idiopathic Hypertrophic Subvalvular Stenosis
  • Obstructive Cardiomyopathies, Hypertrophic
  • Obstructive Cardiomyopathy, Hypertrophic
  • Obstructive cardiomyopathy
  • Primary hypertrophic cardiomyopathy
  • SUBVALV STENOSIS
  • SUBVALV STENOSIS IDIOPATHIC HYPERTROPHIC
  • Septal Hypertrophies, Asymmetric
  • Septal Hypertrophy, Asymmetric
  • Subvalvular Stenosis, Idiopathic Hypertrophic
  • hyper. obst. cardiomyopathy
  • hypertrophic cardiomyopathy
  • hypertrophic myocardiopathy
  • hypertrophic obstructive cardiomyopathy
  • hypertrophic subaortic stenosis
  • obstructive hypertrophic cardiomyopathy
  • primary hypertrophic cardiomyopathy (disorder) [Ambiguous]
Mapped term(s) 36 mapped terms
  • COHD:4124693
  • DOID:11984
  • ICD10:I42.1
  • ICD9:425.1
  • ICD9:425.11
  • ICD9:425.4
  • KEGG:05410
  • MESH:D002312
  • MONDO:0005045
  • MSH:D002312
  • MedDRA:10020871
  • NCIT:C34449
  • NCIt:C34449
  • OMIM:115196
  • OMIM:115197
  • OMIM:192600
  • OMIM:600858
  • OMIM:601493
  • OMIM:608751
  • OMIM:612098
  • OMIM:613251
  • OMIM:613255
  • OMIM:613690
  • OMIM:613765
  • OMIM:613838
  • OMIM:613873
  • OMIM:613874
  • OMIM:613875
  • OMIM:613876
  • OMIM:618052
  • OMIMPS:192600
  • ORDO:Orphanet_217569
  • Orphanet:217569
  • SCTID:233873004
  • SNOMEDCT:233873004
  • UMLS:C0007194

Associated Polygenic Score(s)

Polygenic Score (PGS) ID PGS Name PGS Publication (PGP) ID Reported Trait Mapped Trait(s) (Ontology) Number of Variants PGS Scoring File (FTP Link)
PGS000739 HCM_GRS PGP000146
Harper AR et al. Nat Genet (2021)
Hypertrophic cardiomyopathy hypertrophic cardiomyopathy 27 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000739/ScoringFiles/PGS000739.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 ID)
Evaluated Score PGS Sample Set ID
(PSS ID)
Performance Source Trait PGS Effect Sizes
(per SD change)
PGS Classification Metrics Other Metrics Covariates Included in the Model PGS Performance: Other Relevant Information
PPM001765 PGS000739
(HCM_GRS)
PSS000909 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 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 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)

Evaluated Samples

PGS Sample Set ID
(PSS ID)
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
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
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