DCM-12
Case#: DCM-12, female, Yunnan, China
DiseaseAssertion: DCM
FamilyInfo: n/a
CasePresentingHPOs: n/a
CaseHPOFreeText: n/a
CaseNotHPOs: n/a
CaseNotHPOFreeText: n/a
CasePreviousTesting: physical exam, invasive examination, ECG,
CaseGenotypingMethod: NGS and Sanger Sequencing
Variant: NM_000257.4(MYH7):c.77C>T (p.Ala26Val)
ClinVar: 37375 https://www.ncbi.nlm.nih.gov/clinvar/variation/37375/
CAID: n/a
gnomAD: absent
Table 1 and 4
Case A37: Female, 40yo
DiseaseAssertion: DCM
FamilyInfo: positive family history
CaseHPOFreeText: interventricular septum thickness = 7.9mm, left ventricular end diastolic diameter = 61.3mm, left ventricular end systolic diameter = 42mm, left ventricular posterior wall thickness = 6.8mm, left atrium = 32.6mm, left ventricular ejection fraction = 48%
CasePreviousTesting: 12-lead ECG, echocardiography, full testing (MYBPC3, TNNT2, TNNI3, MYL2, MYL3, TPM1, ACTC1), additional testing (LMNA, PRKAG2, SCN5A, MYH6)
CaseGenotypingMethod: genomic DNA collected from peripheral whole blood samples, PCR, high-throughput sequencing using PGM Sequencing 400 kit, variants verified via Sanger Sequencing
Variant: NM_000257.3(MYH7):c.77C>T (p.Ala26Val)
ClinVar: 37375, https://www.ncbi.nlm.nih.gov/clinvar/variation/37375/
gnomAD: 0.0005233, https://gnomad.broadinstitute.org/variant/14-23902865-G-A
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