Hypertrophic cardiomyopathy
Basic details
Preferred term: Hypertrophic cardiomyopathy
Alt. terms: Enlarged and thickened heart muscle
HPO term: Hypertrophic cardiomyopathy
HPO code: HP:0001639
GenIA ID: 456
Last updated on: 2021-12-10 17:55:48
Cross ref. with other ontologies
NCIT: C34449
MESH: D002312
EFO: -
OAE: -
SNOMEDCT: -
ICD10: I42.2
Description
Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract.
Hierarchical classification
PARENT terms
TERM
Hypertrophic cardiomyopathy
Reported patients added to GenIA DB
| SubjectID | Sex | Fam.ID | Age* | Population | MatchedTerm | Diagnosis | Reference & Pub.codes |
|---|---|---|---|---|---|---|---|
| 101079 | M | 211310 | 39 | Cardiomyopathy | PMID:34975878 [Fam.F045:P045]; PMID:34390440 [NEG005] | ||
| 102174 | M | 210182 |
- | Caucasian | Cardiomyopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.B:I.1(B.I.1)]; PMID:29729943 [Fam.B:I.1(B.I.1 (12))] |
| 102677 | M | 214980 |
16 | Pakistani | Cardiomyopathy | JAK1 deficiency | PMID:28008925 [Patient(II.4)] |
| 105361 | F | 215701 |
- | Pakistani | Cardiomyopathy | Immunodeficiency 87 | PMID:31308374 [Fam.A:III.3(P2)] |
| 106577 | F | 216081 |
- | Caucasian | Cardiomyopathy | Adenosine deaminase 2 deficiency | PMID:26867732 [Fam.D:II.2(P6)] |
*Age: age reported at the first known time of manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).