There are many causes of the heart condition dilated cardiomyopathy (DCM). Causes include drinking too much alcohol, certain other diseases, and taking certain drugs. However, for many people the cause of DCM is unknown. It is this form of DCM that we are interested in. This is called idiopathic dilated cardiomyopathy or IDC. Often, among patients with IDC, the cause is that they were born with a mutation (a mistake in a gene).  Many mutations can cause IDC. We are studying a specific mutation shown to cause IDC that is often found in Ashkenazi Jews. Other people don’t have this specific mutation. Sadly, this mutation can also cause people to die suddenly even if their heart seemed to be fine before they died. The mutation is dominant. That means one copy of the mutation can cause disease. By disease we mean DCM, irregular heartbeats, or sudden death. If someone has the mutation about half of their children will inherit it. Tragically this mutation can cause sudden death without any warning signs in individuals even in young adulthood.  Since the frequency of this mutation is so high in Ashkenazi Jews, we think it may be a major cause of IDC in Ashkenazi Jews.  If we are correct then we can easily find Ashkenazi Jewish families with the mutation by testing all Ashkenazi Jewish patients with IDC for the mutation. If they have the mutation then their families can be tested for the mutation as well. In this way, relatives who have the mutation but don’t have any symptoms can be found. These relatives are at risk for sudden death. By learning that they have the mutation they can be treated to reduce risk of sudden death and lessen severity of DCM.

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There are two ways you can participate in the study. In either case your name will be kept strictly confidential. First, if you have already had clinical genetic testing that included sequencing of your FLNC gene, you can simply share that information with us. Alternatively, if you have not had your FLNC gene sequenced you can provide a saliva sample using a kit we will send you. We will then collect the DNA from the sample (DNA stands for deoxyribonucleic acid. It is the genetic code of organisms). A very small piece of your DNA that surrounds the mutation of interest in the single gene FLNC will be sequenced at the University of Nevada Genomics Center.  The remainder of your DNA and saliva sample will then be discarded.The name of the specific mutation we are studying is FLNC 3791-1 G>C.

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If you choose to have the results returned to you, the potential benefit of participating in this study is that you may learn if you have a specific mutation for IDC and sudden death. This may aid you in seeking appropriate clinical help for yourself. It will also enable you to find out if your family members also have the mutation. If they do it is important to know because they are at risk for DCM and sudden death. There are then measures they can take to reduce risk.  It is important to realize that if you do not contain this specific mutation, your DCM could still be caused by another mutation. Furthermore, this other mutation could also be present in family members and pose a danger to them. Thus you might want to get clinical genetic testing for a panel of genes associated with DCM.  If you choose not to have the results of your sample returned to you, there is no direct benefit to you for being in this study.  You will, however, be helping us learn if the mutation is a frequent cause of IDC in Ashkenazi Jews. This information could then be used in general to find and protect people without any symptoms that are at risk for sudden death.