half-brother (B.III.6) carries the same pathogenic TNNT2-variant and was diagnosed with mild LV dilatation in early childhood.
Case#: Male half-brother with mild left ventricular dilation from early childhood and mild left ventricular impairment; latest reported ejection fraction was 51%.
DiseaseAssertion: DCM
FamilyInfo: several of the siblings DCM, two died at age of 12, father had DCM, and heart transplant for an individual who later died
ParentalTesting: father was an obligate carrier
CasePresentingHPOs: HP:0001644
CaseHPOFreeText: Mild left ventricular dilation and mildly increased LV volumes
CaseNotHPOs: not reported
CaseNotHPOFreeText: not reported
CasePreviousTesting: panel-based genetic test was conducted in the index patient.
Genotyping Method: panel-based genetic test was conducted in the index patient. sanger confirmation
FunctionalAnalysis: not reported
Variant: c.659_661del p.(Lys220del)
ClinVar: 43659
CAID: CA006429
gnomAD: not reported
AdditionalInfo: not reported