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 variant...
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| Format: | Article |
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MDPI AG
2011-08-01
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| Series: | Cardiogenetics |
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| Online Access: | http://www.pagepressjournals.org/index.php/cardiogen/article/view/29 |
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| author | Quinn S. Wells Natalie L. Ausborn Birgit H. Funke Jean P. Pfotenhauer Joseph L. Fredi Samantha Baxter Thomas G. DiSalvo Charles C. Hong |
| author_facet | Quinn S. Wells Natalie L. Ausborn Birgit H. Funke Jean P. Pfotenhauer Joseph L. Fredi Samantha Baxter Thomas G. DiSalvo Charles C. Hong |
| author_sort | Quinn S. Wells |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-16T12:17:11Z |
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| id | doaj.art-47825e1ff142456eba91fd7fd1256348 |
| institution | Directory Open Access Journal |
| issn | 2035-8253 2035-8148 |
| language | English |
| last_indexed | 2024-12-16T12:17:11Z |
| publishDate | 2011-08-01 |
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| record_format | Article |
| series | Cardiogenetics |
| spelling | doaj.art-47825e1ff142456eba91fd7fd12563482022-12-21T22:32:03ZengMDPI AGCardiogenetics2035-82532035-81482011-08-0111e10e1010.4081/cardiogenetics.2011.e1035Familial dilated cardiomyopathy associated with congenital defects in the setting of a novel VCL mutation (Lys815Arg) in conjunction with a known MYPBC3 variantQuinn S. Wells0Natalie L. Ausborn1Birgit H. Funke2Jean P. Pfotenhauer3Joseph L. Fredi4Samantha Baxter5Thomas G. DiSalvo6Charles C. Hong7Center for Inherited Heart Disease, Division of Cardiovascular Medicine, Vanderbilt University School of Medicine, Nashville, TNCenter for Inherited Heart Disease, Division of Cardiovascular Medicine, Vanderbilt University School of Medicine, Nashville, TNLaboratory for Molecular Medicine, Partners HealthCare Center for Personalized Genetic Medicine, Cambridge, MACenter for Inherited Heart Disease, Division of Cardiovascular Medicine, Vanderbilt University School of Medicine, Nashville, TNCenter for Inherited Heart Disease, Division of Cardiovascular Medicine, Vanderbilt University School of Medicine, Nashville, TNLaboratory for Molecular Medicine, Partners HealthCare Center for Personalized Genetic Medicine, Cambridge, MACenter for Inherited Heart Disease, Division of Cardiovascular Medicine, Vanderbilt University School of Medicine, Nashville, TNCenter for Inherited Heart Disease, Division of Cardiovascular Medicine, Vanderbilt University School of Medicine; Research Medicine, Veterans Affairs TVHS, Nashville, TNIdiopathic 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.http://www.pagepressjournals.org/index.php/cardiogen/article/view/29dilated cardiomyopathy, vinculin, myosin binding protein C, VCL, MYBPC. |
| spellingShingle | Quinn S. Wells Natalie L. Ausborn Birgit H. Funke Jean P. Pfotenhauer Joseph L. Fredi Samantha Baxter Thomas G. DiSalvo Charles C. Hong Familial dilated cardiomyopathy associated with congenital defects in the setting of a novel VCL mutation (Lys815Arg) in conjunction with a known MYPBC3 variant Cardiogenetics dilated cardiomyopathy, vinculin, myosin binding protein C, VCL, MYBPC. |
| title | Familial dilated cardiomyopathy associated with congenital defects in the setting of a novel VCL mutation (Lys815Arg) in conjunction with a known MYPBC3 variant |
| title_full | Familial dilated cardiomyopathy associated with congenital defects in the setting of a novel VCL mutation (Lys815Arg) in conjunction with a known MYPBC3 variant |
| title_fullStr | Familial dilated cardiomyopathy associated with congenital defects in the setting of a novel VCL mutation (Lys815Arg) in conjunction with a known MYPBC3 variant |
| title_full_unstemmed | Familial dilated cardiomyopathy associated with congenital defects in the setting of a novel VCL mutation (Lys815Arg) in conjunction with a known MYPBC3 variant |
| title_short | Familial dilated cardiomyopathy associated with congenital defects in the setting of a novel VCL mutation (Lys815Arg) in conjunction with a known MYPBC3 variant |
| title_sort | familial dilated cardiomyopathy associated with congenital defects in the setting of a novel vcl mutation lys815arg in conjunction with a known mypbc3 variant |
| topic | dilated cardiomyopathy, vinculin, myosin binding protein C, VCL, MYBPC. |
| url | http://www.pagepressjournals.org/index.php/cardiogen/article/view/29 |
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