Thomas DiSalvo
Last active: 2/19/2015

Familial dilated cardiomyopathy associated with congenital defects in the setting of a novel VCL mutation (Lys815Arg) in conjunction with a known MYPBC3 variant.

Wells QS, Ausborn NL, Funke BH, Pfotenhauer JP, Fredi JL, Baxter S, Disalvo TD, Hong CC
Cardiogenetics. 2011 1 (1)

PMID: 24062880 · PMCID: PMC3779542 · DOI:10.4081/cardiogenetics.2011.e10

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 the and genes 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 the gene. More severely affected family members also possess a second missense variant in , 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.

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