proband (individual II.11 in Tables 1 and 2 and Fig. 1a) presented with dyspnea on exertion, palpitations and exercise intolerance at 53 years of age
Case1: Female, 53
DiseaseAssertion: Restrictive Cardiomyopathy
FamilyInfo:Pedigree in Fig 1. shows “ The proband (II.11) has five siblings and three nieces with cardiomyopathy,” “the proband’s two oldest siblings were diagnosed with idiopathic DCM”
CasePresentingHPOs: HP:0002094, HP:0001962, HP:0031329, HP:0001688, HP:0001709
CaseHPOFreeText:”Echocardiography revealed massive biatrial enlargement (Fig. 2a) and markedly abnormal diastolic function” “she had mild hypertrophy localized to the mid-septum” “progressive atrial enlargement”
CaseNotHPOs:HP:0012436,
CaseNotHPOFreeText: “with no systolic anterior motion of the anterior mitral valve leaflet or left ventricular outflow tract obstruction” “The sample was negative for eosinophilic infiltrate, myocarditis, sarcoidosis, amyloidosis and hemochromatosis.”
CasePreviousTesting: Sequenced TNNT2, TTN, MYL3, MYBPC, MYL2, MYH7, ACTC1, TPM1, and TNNI3
Genotyping Method: PCR
Variant: c.266T>A (p.Ile89Asn)
ClinVar:CA004157
gnomAD: To be found
AdditionalInfo: Autosomal Dominant trait, heterozygous missense mutation in TNNT2