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Cardiogenetics
Volume 1
Issue 1
10.4081/cardiogenetics.2011.e10
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Cardiogenetics is published by MDPI from Volume 10 Issue 2 (2020). Previous articles were published by another publisher in Open Access under a CC-BY (or CC-BY-NC-ND) licence, and they are hosted by MDPI on mdpi.com as a courtesy and upon agreement with PAGEPress.
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Case Report

Familial Dilated Cardiomyopathy Associated with Congenital Defects in the Setting of a Novel VCL Mutation (Lys815Arg) in Conjunction with a Known MYPBC3 Variant

by
Quinn S. Wells
1,
Natalie L. Ausborn
1,
Birgit H. Funke
2,
Jean P. Pfotenhauer
1,
Joseph L. Fredi
1,
Samantha Baxter
2,
Thomas G. DiSalvo
1,* and
Charles C. Hong
1,3,*
1
Center for Inherited Heart Disease, Division of Cardiovascular Medicine, Vanderbilt University School of Medicine, Nashville, TN, USA
2
Laboratory for Molecular Medicine, Partners HealthCare Center for Personalized Genetic Medicine, Cambridge, MA, USA
3
Research Medicine, Veterans Affairs TVHS, Nashville, TN, USA
*
Authors to whom correspondence should be addressed.
Cardiogenetics 2011, 1(1), e10; https://doi.org/10.4081/cardiogenetics.2011.e10
Submission received: 3 March 2011 / Revised: 3 March 2011 / Accepted: 20 July 2011 / Published: 22 August 2011

Abstract

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 VCL and MYBPC3 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 VCL gene. More severely affected family members also possess a second missense variant in MYBPC3, raising the possibility that this variant may be a disease modifier. Intere - stingly, 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.
Keywords: dilated cardiomyopathy; vinculin; myosin binding protein C; VCL; MYBPC dilated cardiomyopathy; vinculin; myosin binding protein C; VCL; MYBPC

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MDPI and ACS Style

Wells, Q.S.; Ausborn, N.L.; Funke, B.H.; Pfotenhauer, J.P.; Fredi, J.L.; Baxter, S.; DiSalvo, T.G.; Hong, C.C. Familial Dilated Cardiomyopathy Associated with Congenital Defects in the Setting of a Novel VCL Mutation (Lys815Arg) in Conjunction with a Known MYPBC3 Variant. Cardiogenetics 2011, 1, e10. https://doi.org/10.4081/cardiogenetics.2011.e10

AMA Style

Wells QS, Ausborn NL, Funke BH, Pfotenhauer JP, Fredi JL, Baxter S, DiSalvo TG, Hong CC. Familial Dilated Cardiomyopathy Associated with Congenital Defects in the Setting of a Novel VCL Mutation (Lys815Arg) in Conjunction with a Known MYPBC3 Variant. Cardiogenetics. 2011; 1(1):e10. https://doi.org/10.4081/cardiogenetics.2011.e10

Chicago/Turabian Style

Wells, Quinn S., Natalie L. Ausborn, Birgit H. Funke, Jean P. Pfotenhauer, Joseph L. Fredi, Samantha Baxter, Thomas G. DiSalvo, and Charles C. Hong. 2011. "Familial Dilated Cardiomyopathy Associated with Congenital Defects in the Setting of a Novel VCL Mutation (Lys815Arg) in Conjunction with a Known MYPBC3 Variant" Cardiogenetics 1, no. 1: e10. https://doi.org/10.4081/cardiogenetics.2011.e10

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