Case1: Male, 12, China

DiseaseAssertion: Hypertrophic cardiomyopathy

FamilyInfo: parents where not consanguineous, both carried variants.

ParentalTesting: sanger sequencing showed c.1789C>T variant in patients paternal grandmother, and c.3033delG from maternal grandmother

CasePresentingHPOs: HP:0001962 HP:0002094 HP:0001279 HP:0001712 “Palpitations, Dyspnea, Syncope, Left ventricular hypertrophy”

CaseHPOFreeText: symptoms lasted about a year, ECG showed sinus arrhythmia, high left ventricle voltage

CaseNotHPOs: “the patient had no skeletal muscle disease or mental retardation. The diagnosis of glycogen storage disease was also excluded.”

CaseNotHPOFreeText: no other family members diagnosed with heart disease

CasePreviousTesting: diagnosed 3 months before presentation with HCM, no prior genetic testing, but there was echocardiogram and ecg testing.

Genotyping Method: Sanger and NGS

FunctionalAnalysis: no functional analysis preformed

Variant: c.1789C>T (p.Arg597Trp), c.3033delG (p.Gln1012Serfs*8)

ClinVar: NM_000256.3(MYBPC3):c.1789C>T (p.Arg597Trp),

CAID: no results

gnomAD: no results

AdditionalInfo: treated with metoprolol, at 3 moth follow up lvot decreased