35 year-old asymptomatic Caucasian female
Case1: 35, Female, Caucasian
DiseaseAssertion: Patient was asymptomatic
FamilyInfo: “ significant family history of hypertrophic cardiomyopathy (HCM), including sudden cardiac death of unknown cause in one son and HCM in two other children”
CaseHPOFreeText: “extensive, diffuse, poorly demarcated LGE throughout the LV ventricle”
CaseNotHPOFreeText: “CMR showed normal left ventricular (LV) systolic function…and normal wall thickness ”
CasePreviousTesting:
Genotyping Method: Subsequent genotyping
Variant: c.305G>A (p.Arg102Gln)
ClinVar:CA004273