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. 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.
Highlights
Veterans Affairs TVHS, Nashville, TN; 3Laboratory for Molecular Medicine, Partners HealthCare Center for ly Personalized Genetic Medicine, Cambridge, MA, USA e on Abstract us Idiopathic dilated cardiomyopathy (DCM) is l a primary myocardial disorder characterized by ia ventricular chamber enlargement and systolic dysfunction
We describe a family with DCM and congenital abnormalim ties who carry a novel missense mutation in o the vinculin gene (VCL) gene
The VCL gene, which is highly conserved throughout vertebrate evolution, is located on chromosome 10q22-q23 and contains 22 exons.[16]
Summary
The proband was a 69-year-old woman followed in heart transplant clinic with a complex cardiac history who had undergone heart transplantation 8 years earlier. There was a family history of dilated cardiomyopathy associated with minor congenital abnormalities, with the proband’s sister, father, and brother all affected (Figure 1) Her bicuspid aortic valve with aortic regurgitation. Time demonstrated a severely reduced left venexcluded, and accounts for up to half of all At the time of transplantation, she was felt to tricular ejection fraction of 10-20% as well as patients presenting with a dilated phenotype.[1,2,3,4] have an advanced non-ischemic dilated He prevalence of 1 in 2500 persons.
Sign-in/Register to view highlights & summary Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
