Case#: Pedigree C, C.4, age 60, Male

DiseaseAssertion: Dilated Cardiomyopathy

FamilyInfo: Pedigree C, Fig. 2 and Table 2. The individual carried MYBPC3 P910T and TNNC1 D145E. A brother was affected with hypertrophic cardiomyopathy. A daughter, C.6, carried MYBPC3 P910T only and had normal cardiac screening at age 38.

CasePresentingHPOs: HP:0200128 HP:0001644

“Dilated cardiomyopathy; left ventricular dilation; severely reduced ejection fraction; left bundle branch block; first-degree atrioventricular block”

Genotyping Method: DNA was isolated from a peripheral blood sample of the patient and was screened for mutations by direct sequencing

Variant: NM_000256.3: c.2728C>A (p.Pro910Thr; P910T)

ClinVar: 42656

CAID: CA012881