Case: 2
DiseaseAssertion: hypertrophic cardiomyopathy, Left ventricular hypertrophy
FamilyInfo: Finnish, no family info
CasePresentingHPOs: HP:0001639, HP:0001712
"hypertrophic cardiomyopathy, Left ventricular hypertrophy"
CaseHPOFreeRext:
CaseNOTHPOs:
CaseNOTHPOFreeText:
CasePreviousTesting: 24 h Holter registration and bicycle ergometer test performed in majority of patients. Cardiac magnetic resonance imaging was performed to verify the diagnosis of HCM
GenotypingMethod: Targeted next-generation sequencing of exons, UTRs and 10 bp flanking regions of 59 cardiomyopathy associated genes, filtered variants confirmed by Sanger sequencing
MultipleGeneVariants:
(1) MYH7 Variant: NM_000257.4:c.3158G>A
ClinVarID: 155814
gnomAD: http://gnomad.broadinstitute.org/variant/14-23891476-C-T
Total Allele Frequency: 0.00006010
European Finnish: 0.0006368
(2) MYBPC3 Variant: NM_000256.3:c.440C>T
ClinVarID: 181035
gnomAD: http://gnomad.broadinstitute.org/variant/11-47371630-G-A
Total Allele Frequency: 0.0005896
European (Finnish): 0.005563
(3) MYOZ2 Variant: NM_016599.4:c.738A>G
ClinVarID: 30509
gnomAD: http://gnomad.broadinstitute.org/variant/4-120107298-A-G
Total Allele Frequency: 0.0023
European (Finnish): 0.02188
(4) PSEN2 Variant: NM_012486.2:c.211C>T
ClinVarID: 192130
gnomAD: http://gnomad.broadinstitute.org/variant/1-227071475-C-T
Total Allele Frequency: 0.003711
European (Finnish): 0.01791
(5) SCN5A Variant: NM_000335.4:c.1715C>A
ClinVarID: 67683
gnomAD: http://gnomad.broadinstitute.org/variant/3-38645378-G-T
Total Allele Frequency: 0.005175
European (Finnish): 0.03855
PreviouslyPublished:
SupplementalData: Table S3: list of all 382 patients with HCM included in the FinHCM Genetic Study, and the rare variants (GMAF <1%) detected in each patient.