Hypertrophic Cardiomyopathy

URI: https://gptkb.org/entity/Hypertrophic_Cardiomyopathy
GPTKB entity
Statements (51)
Predicate Object
gptkbp:instanceOf gptkb:disease
gptkbp:abbreviation gptkb:HCM
gptkbp:affects heart
myocardium
gptkbp:associatedWith gptkb:MYH7
TNNI3
TNNT2
TPM1
MYBPC3
sudden death in athletes
gptkbp:canBeAsymptomatic true
gptkbp:cause gptkb:arrhythmia
heart failure
shortness of breath
chest pain
sudden cardiac death
syncope
gptkbp:characterizedBy thickening of heart muscle
gptkbp:complication gptkb:atrial_fibrillation
stroke
mitral regurgitation
gptkbp:diagnosedBy genetic testing
echocardiogram
cardiac MRI
gptkbp:differentialDiagnosis aortic stenosis
hypertensive heart disease
athlete's heart
gptkbp:firstDescribed 1958
gptkbp:hasGeneReviews NBK1768
gptkbp:hasMedlinePlus 000185
gptkbp:hasOrphanetID Orphanet:217
gptkbp:hasUMLS C0018827
https://www.w3.org/2000/01/rdf-schema#label Hypertrophic Cardiomyopathy
gptkbp:ICD-10_code I42.1
gptkbp:inheritance autosomal dominant
gptkbp:MeSH_ID D006391
gptkbp:mortalityRate low in general population
gptkbp:OMIM 192600
gptkbp:prevalence 1 in 500 people
gptkbp:prognosis variable
gptkbp:riskFactor family history
genetic disorder
gptkbp:symptom fatigue
palpitations
gptkbp:treatment gptkb:implantable_cardioverter-defibrillator
beta blockers
calcium channel blockers
septal myectomy
alcohol septal ablation
gptkbp:bfsParent gptkb:HCM
gptkbp:bfsLayer 6