Case1: 3 year old female

DiseaseAssertion: LVNC

FamilyInfo: sister and brother diagnosed with Ebstein's anomaly, LVNC, and VSD, and same novel mutation was identified in sister, brother, and father

CasePresentingHPOs: HP:0031664, HP:0010316, HP:0001631, HP:0002789, HP:0001649, HP:0001680

"Systolic heart murmur, Ebstein anomaly of the tricuspid valve, Atrial septal defect, Tachypnea, Tachycardia, Coarctation of aorta

CaseHPOFreeText: precordial systolic murmur at 4 days old, moderate tricuspid valve insufficiency, right heart enlargment, membranous VSD, feeding poorly at 11 days

CasePreviousTesting: No mutations were identified in the TAZ, LMNA/C, MYBPC3, TNNT2, TNNI3, ACTC, and TPM1 genes

GenotypingMethod: Sequence analysis of MYH7

Variant: NM_000257.4:c.1085T>G

ClinVar: not found

CAID: CA389051391

gnomAD: not found