Case1: 8 year old female

DiseaseAssertion: Heart failure

FamilyInfo: “ no family history of sudden cardiac death or cardiomyopathy” Pedigree in Figure 5.

ParentalTesting: Variant not found in parents

CasePresentingHPOs:HP:0010741, HP:0001723

CaseHPOFreeText: “biatrial enlargement of ST-segment depression in the inferior and lateral precordial leads” “Echocardiography revealed the enlargement of both atria…slight pericardial effusion, and a LV ejection fraction of 55%”

CaseNotHPOFreeText: “LV global longitudinal strain measured by speckle-tracking echocardiography was normal” “Late gadolinium enhancement was negative.” “no evidence of pulmonary embolism, anomalous pulmonary venous drainage, or pulmonary arteriovenous fistulas” “The following laboratory findings were normal: thyroid function, liver chemistry tests, rheumatic disease antibody levels, troponin I, creatinine, and blood urea nitrogen levels, white blood cell count, urine analysis, D-dimer levels, hepatitis panel screening, and serum free light chain concentrations; HIV antibody levels were negative.”

Genotyping Method: Next generation sequencing

Variant: c.574C > T p.R192C)

ClinVar:CA021951