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Our research is focused on determining the genetic causes of bicuspid aortic valve disease (BAV).  In order to find answers, we enroll and collect DNA from patients, like you, into our study.

By identifying the genes associated with BAV, it may be possible to develop therapies for long-term management of the disease, which would delay surgery or the onset of other cardiac complications associated with BAV.

To find the genetic causes of BAV, we compare the variation that is present in the genes of people with BAV, to the genetic variation in people that do not have BAV.  To find the variant that is responsible for BAV, we examine the genetic codes of individuals with and without BAV.  We then look to see what variants are present in BAV, but not present in people without BAV.  Researchers have to study very large numbers of people with and without BAV because between any two random people there are well over a million differences in their DNA.  To separate out the one or more variants responsible for BAV means doing this comparison between individuals many times.

The long-term goals of the research are to learn how to better understand, prevent, diagnose or treat bicuspid aortic valve disease.  As we learn more, new types of research and new research questions related to bicuspid aortic valve disease may be done.

For you, involvement in the study will take less than 30 minutes and can be completed from your home.

First, we will ask you to complete a packet of materials, which includes a consent form, a brief medical history questionnaire, and an authorization form to release of  your relevant medical records (in case we need, for example, an echocardiogram from an outside hospital).

Second, we send you a saliva collection kit, which looks similar to a contact lens case.  All you need to do is spit in it and send it back to us in the mail.  From your saliva, we will extract your DNA.

We collect saliva for several reasons.  First, it is painlessly retrieved from patients and is available in large amounts.  Second, it is easy to mail.  Finally, saliva is full of DNA, even more than blood, so the chance of us being able to get sufficient DNA from just one saliva sample is really high.

Finally, we may re-contact you in the future for more or updated information.

We ask you about your medical and family history, concentrating on your heart and whether other members of your family also have BAV. We ask about family members since it is especially helpful to consider genes from direct relatives. If you have direct relatives with/without BAV you may be asked if we could contact them for a DNA sample as well. That choice again is 100% up to you.

From your hospital records, we request the cardiology images and reports to look at your aortic valve and aorta.  If you have had cardiac surgery, we look at the surgeon’s report of the operation.

From the DNA extracted from saliva, we measure your genetic makeup.  This is done by either genotyping or sequencing the DNA to look for variation from the “normal” DNA sequence.

Members of our research team that have been approved by the Partners’ Human Research Committee will be able to see your medical information.  If someone does not have approval from the Partners’ Ethics Committee, they will not have access to your medical information.

In addition, there are members who regulate research activities who may look at your medical record in order to be sure we are doing a good job in protecting your privacy and performing the research.

Your DNA samples will be maintained and stored by our research group at Brigham and Women’s Hospital in a locked freezer.  The samples will only be labeled with an alphanumeric code.  Your name and hospital medical record number are NOT on the sample.  The key to the sample ID code is held separately and is only accessible by our research group.

We share DNA samples with our collaborating researchers at Partners Biobank, Harvard Medical School and other institutions.  No researcher that ever receives your sample will have the key to the code containing your personal or personal health information.  We do this so that they can perform genotyping or sequencing to answer questions about BAV.  After they have done the analysis, the results are returned to us. Your samples will never be sold for profit.

We perform a type of analysis called a whole genome analysis on your DNA sample.  Usually researchers study just a few areas of your genetic code that are linked to a disease or condition.  In whole genome studies, all or most of your genes are analyzed and used by researchers to study links to bicuspid aortic valve disease.

This is important as with this level of in-depth genotyping, your susceptibility to other diseases may be discerned.  We currently don’t do this as we are only interested in BAV.  But it’s more complicated than that; what should I do if I incidentally find a result in your genotyping that predicts a disease for you?  How should I tell you?  What genetic counseling should be provided to you?  Who should provide it – I’m not an expert on cancer risk, for example.  There is presently not much consensus on this issue, please see the “WILL YOU GIVE ME BACK THE RESULTS OF MY GENETIC TESTS” tab for more information on this.

This is a sticky one.  When we first started this study in 2009, our Institutional Review Board told us we were not allowed to return any results.  In the last four years there has been a shift in how Genetics Societies, Investigators and Ethics people view the return of results that were obtained from genetics studies.  I suspect that in due time we will be obliged to return results to you.  But for the moment, we are not allowed to.  However, we will update you when scientific literature on this topic has been published by way of our News tab on this website.  For some of the discussion around this complex issue, take a look at these web pages.

http://www.livescience.com/34489-incidental-findings-genetic-screening-guidelines.html

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3597341/pdf/nihms446310.pdf

With any identification of a gene that is associated with thoracic aortic aneurysm development or aortic dissection, please bear in mind that this result may only indicate an increased risk of getting these diseases, not that you will definitely get them.

A similar analogy is that smokers are at increased risk of lung cancer. Not every smoker will get lung cancer and some non-smokers will get lung cancer. It is important to appreciate that the risk of lung cancer is increased with smoking but it is not certain that every smoker will get lung cancer.

No. You were either born with a bicuspid aortic valve or not. The most reliable way to tell if you have a bicuspid valve is to have a test such as a cardiac echo (ultrasound). This is easily obtained by contacting your Family Physician or Cardiologist. Please discuss this with your medical practitioner.

No. If you have a bicuspid aortic valve you are at an increased risk of developing a thoracic aortic aneurysm or dissection over time. The most reliable way to tell if you have one is to have a test such as a cardiac echo (ultrasound). This is easily obtained by contacting your Family Physician or Cardiologist. If you have a bicuspid valve, he or she may wish to get regular cardiac echoes to monitor for its development.

There is a general agreement that first-degree relatives (parents, siblings, children) of someone with a bicuspid valve or an aortic aneurysm should have an echocardiogram or MRI to establish whether or not they have a bicuspid valve, as there is a higher rate of bicuspid aortic valve and aortic aneurysm in first-degree relatives.  The rationale for this is two-fold:

  1. That examining the progression of aortic valve disease in order to time aortic valve replacement is valuable and requires prior knowledge of a bicuspid aortic valve
  2. That because some people with bicuspid aortic valve disease also have an aortic aneurysm, it is important to identify those individuals.

However, some physicians do not agree with this plan.  Please consult your primary care physician or cardiologist on whether or not your first-degree relatives should be tested for BAV.

As far as your children: In general, a bicuspid aortic valve does not cause problems in early childhood. However, if you have any concerns at all, you should discuss this with your Family Physician or Cardiologist.

Yes. You still have the same genetic makeup that originally caused the bicuspid aortic valve, so we can still study the genetic cause of bicuspid aortic valve disease using your DNA. If you wish to be involved in the study, we will ask your Surgeon for information about the valve that was removed at surgery.

Rest assured, you cannot grow another bicuspid aortic valve. However, even if you have a bicuspid aortic valve removed, you may be at an increased risk of developing a thoracic aortic aneurysm or dissection over time.

No, nothing bad will happen if you decide not to participate in this research study.  Your decision to enroll or not enroll will not change the medical care you get within Partners, either now or in the future.  There will be no penalty, and you won’t lose any benefits you receive now or have a right to receive.

Taking part in this research study is up to you.  You can decide not to take part.  If you decide to take part now, you can change your mind and drop out later.  We will tell you if we learn new information that could make you change your mind about taking part in this research study.

You have a right to withdraw your permission at any time.  If you do, your samples and your information will be destroyed.

At the moment we are saying that there will not be any personal benefit to you from participation in this study.  If successful, we may be able to identify the genetic cause(s) of bicuspid aortic valve disease and perhaps develop treatments to prevent or delay the consequences of a bicuspid aortic valve.  If there is benefit from this research it will to the whole population of those with a bicuspid aortic valve and not to you directly as a result of participating in this research.

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