Table 4. Clinical characteristic and outcome of hypertrophic cardiomyopathy patients with double mutations
Case1: Female, 74 years old
DiseaseAssertion: Hypertrophic cardiomyopathy
FamilyInfo: family history negative for HC and SCD
CasePresentingHPOs: HP:0001962
"Palpitations"
CaseHPOFreeText: Age 25 at diagnosis, double heterozygote
CaseNotHPOs:
CaseNotHPOFreeText:
CasePreviousTesting: Genomic DNA of peripheral blood was harvested from all subjects and their family members. The sequence of all coding sequences (exon 2-39 of MYH7, exon 1-35 of MYBPC3, exon 2-17 of TNNT2) for selected genes was studied by polymerase chain reaction (PCR), and direct sequencing. Maximal LVWT 21.3 mm
GenotypingMethod: Direct sequencing of MYH7
VariantMYH7: NM_000257.4:c.77C>T
ClinVar: 37375
CAID: CA016817
gnomAD: https://gnomad.broadinstitute.org/variant/14-23902865-G-A
0.006515 East Asian
VariantMYBPC3: NM_000256.3:c.1000G>A
ClinVar: 177902
CAID: CA009667
gnomAD: https://gnomad.broadinstitute.org/variant/11-47367848-C-T
0.003338 East Asian