A 65‐year‐old woman
Case#: female; age 65
DiseaseAssertion: chemotherapy-induced cardiomyopathy with severe left ventricular systolic dysfunction
FamilyInfo: NR
ParentalTesting: NR
CasePresentingHPOs: HP:0001644 HP:0001635 HP:0001640
CaseHPOFreeText: Dilated left ventricle; left ventricular dysfunction; cardiomegaly; bilateral pleural effusion; dyspnea
CaseNotHPOs: NR
CaseNotHPOFreeText: NR
CasePreviousTesting: Previous anthracycline-associated cardiomyopathy 7 years earlier
Genotyping Method: TruSight One Expanded 6700-gene sequencing panel on an Illumina NextSeq 550
FunctionalAnalysis: NR
Variant: c.452G>A (p.Arg151Gln; rs730881101); missense variant; heterozygous
ClinVar: 181617
CAID: NR
gnomAD: NR