Case#:53-year-old female

DiseaseAssertion:non-obstructive HCM with progressive deterioration of right heart function

FamilyInfo:mother has cardiac hypertrophy, the TNNI3 variant was also detected her sister and daughter

CasePresentingHPOs:HP:0005110, HP:0012398, HP:0001962, HP:0031352, HP:0033118, HP:0011675

CaseHPOFreeText:enlarged cardiac silhouette

CaseNotHPOs:HP:0030829, HP:0030148

CaseNotHPOFreeText: jugular venous distention

CasePreviousTesting:Electrocardiogram, Echocardiograms

Genotyping Method:next-generation sequencing (NGS)

FunctionalAnalysis: Hybridized pathogenic variant in exon 7 of TNNI3 (table 1)

Variant:NM_000363.4:c.470C>T(p.Ala157Val)

ClinVar:43388

CAID:CA021720

gnomAD:chr19-55154109-G-A