Case1: Female, four years five months

DiseaseAssertion: RCM

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

ParentalTesting: NA

CasePresentingHPOs:HP:0002094, HP:0002875,

CaseHPOFreeText: “congestive hepatomegaly” “lower extremity edema” “increased heart shadow without calcification of the pericardium” “bi-atrial enlargement without calcification of the pericardium, thickened pericardium, or endocardium” “‘eft and right atria were enlarged, the right ventricle was slightly enlarged”

CaseNotHPOs:

CaseNotHPOFreeText: “the left ventricle was normal in size, without calcification of the pericardium, thickened pericardium, or endocardium”

CasePreviousTesting: Chest X-ray, Abdominal ultrasonography, MRI, Two-dimensional echocardiography

Genotyping Method: Sanger Sequencing

FunctionalAnalysis: NA

Variant:c.508C>T p.Arg170Trp

ClinVar: 4188245

CAID:

gnomAD:

AdditionalInfo:

Case2: Five year old female

DiseaseAssertion: RCM

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

ParentalTesting:

CasePresentingHPOs:HP:0002875, HP:0002094

CaseHPOFreeText: “lower extremity edema” “congestive hepatomegaly” “ increased heart shadow without calcification of the pericardium” “bi-atrial enlargement without calcification of the pericardium, thickened pericardium, or endocardium”

CaseNotHPOs:

CaseNotHPOFreeText:

CasePreviousTesting: Abdominal ultrasonography, ECG, Chest X-ray, MRI, Two-dimensional echocardiography

Genotyping Method: Sanger Sequencing

FunctionalAnalysis:

Variant: NM_006757.4(TNNT3):c.575G>A (p.Gly192Asp)

ClinVar: 4633351

CAID:

gnomAD:

AdditionalInfo: