Case3: Four month, 21 day old male

DiseaseAssertion: RCM

FamilyInfo: “No family history of RCM or other cardiovascular diseases was reported.”

ParentalTesting:

CasePresentingHPOs: HP:0000961

CaseHPOFreeText: “late hoarseness” “ dilation of the left and right atria”

CaseNotHPOs:

CaseNotHPOFreeText: “normal ventricular sizes, without calcification of the pericardium, thickened pericardium, or endocardium”

CasePreviousTesting: echocardiography

Genotyping Method: Sanger Sequencing

FunctionalAnalysis:

Variant: c.517C>T p.Leu173Phe

ClinVar: Not found

CAID: CA407440287

gnomAD:

AdditionalInfo: “Unfortunately, tissue velocity images were not obtained and the TTE images of this case were lost.”