Familial dilated cardiomyopathy associated with congenital defects in the setting of a novel VCL mutation (Lys815Arg) in conjunction with a known MYPBC3 variant.
Idiopathic dilated cardiomyopathy (DCM) is a primary myocardial disorder characterized by ventricular chamber enlargement and systolic dysfunction. Twenty to fifty percent of idiopathic DCM cases are thought to have a genetic cause. Of more than 30 genes known to be associated with DCM, rare variants in theVCLandMYBPC3genes have been reported in several cases of DCM. In this report, we describe a family with DCM and congenital abnormalities who carry a novel missense mutation in theVCLgene. More severely affected family members also possess a second missense variant inMYBPC3, raising the possibility that this variant may be a disease modifier. Interestingly, many of the affected individuals also have congenital defects, including two with bicuspid aortic valve with aortic regurgitation. We discuss the implications of the family history and genetic information on management of at-risk individuals with aortic regurgitation.
Center for Inherited Heart Disease, Division of Cardiovascular Medicine, Vanderbilt University School of Medicine, Nashville, TN 37232.
Quinn S
QS
Wells
Natalie L
NL
Ausborn
Birgit H
BH
Funke
Jean P
JP
Pfotenhauer
Joseph L
JL
Fredi
Samantha
S
Baxter
Thomas D
TD
Disalvo
Charles C
CC
Hong
Dilated cardiomyopathy; MYBPC; Myosin binding protein C; VCL; Vinculin