Case#: V-1; male; age 68

DiseaseAssertion: Familial hypertrophic cardiomyopathy

FamilyInfo: HCM was reported in the proband’s father and three daughters. The same heterozygous TNNT2 Δ160E variant was identified in all three daughters

CasePresentingHPOs: HP:0001712 HP:0012664 HP:4000141 HP:0004756

CaseHPOFreeText: Left ventricular hypertrophy; progressive left ventricular systolic dysfunction; left ventricular enlargement; cardiomyocyte hypertrophy; sustained ventricular tachycardia; advanced heart failure

CasePreviousTesting: Diagnosed with HCM at age 25; no previous genetic testing reported

Genotyping Method: Ion AmpliSeq cardiovascular research panel screening 404 genes, with direct Sanger sequencing confirmation

FunctionalAnalysis: Patient-derived and isogenic CRISPR/Cas9-edited iPSC-derived cardiomyocytes showed prolonged calcium decay, impaired relaxation, cardiomyocyte hypertrophy, and altered calcium-regulated signaling. EGCG partially improved the calcium and relaxation abnormalities.

Variant: c.478_480del, p.Δ160E; in-frame 3-bp deletion

ClinVar: 43648

CAID: CA004651