Case1: 38, Male

FamilyInfo: ”identification of nine additional heterozygous carriers of the p.V79I mutation, none of whom fulfilled the diagnostic criteria for HCM” Pedigree in Figure 1, and Table 1 gives identifiers in variant carriers.

CasePresentingHPOs:HP:0030148

CaseHPOFreeText: “Echocardiography demonstrated asymmetrical septal ventricular hypertrophy…and left atrial dilation”

CaseNotHPOs:HP:0001279, HP:0000822

CaseNotHPOFreeText: ”He was asymptomatic and had never experienced cardiac symptoms, systemic hypertension, or syncope.”

Genotyping Method:Genotyping of 11 sarcomere genes

Variant:(c.235G > A), p.V79I

ClinVar:CA013672