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Familial Thoracic Aortic Aneurysm and Dissection

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Overview

What is Familial Thoracic Aortic Aneurysm and Dissection?
A thoracic aortic aneurysm happens when the aorta in area of the chest called the thoracic cavity become too large. Arteries are blood vessels that carry blood away from the heart, and the aorta is the first part of the artery that does this.

An aortic aneurysm does not usually have symptoms. However, if it is not fixed, it can get larger and larger over time - to the point where it can rip the aorta. A rip in the aorta can cause blood to flow to the wrong areas of the body and can be life-threatening.

In about 1 in 5 people, thoracic aortic aneurysms are caused by a faulty gene inherited from a parent. This type of thoracic aortic aneurysm is called familial thoracic aortic aneurysm.

Several genes are linked to Familial Thoracic Aortic Aneurysm and Dissection (FTAAD). These genes include ACTA2, MYLK, and MYH11.

If one parent has a faulty gene linked to FTAAD, there is a 50% chance each of their children will inherit this gene. A brother, sister, or parent of a person who has a FTAAD risk gene also has a 50% chance of inheriting this gene.

If genetic testing shows that a person has a risk of developing FTAAD, they should have regular imaging tests to monitor their aorta. Drugs that reduce blood pressure can reduce stress on the aorta and are often given to people with FTAAD. Surgery is needed if the aorta is becoming too large.

Other names for FTAAD are: thoracic aortic aneurysm (TAA), thoracic aortic aneurysm and dissection (TAAD), familial aortic aneurysm (FAA), and annuloaortic ectasia.

Changes in several genes, including ACTA2, MYLK, and MYH11 can cause Familial Thoracic Aortic Aneurysm . Source: Luyckx & Loeys, 2015, Heart. Image created by Iconarray.com. Risk Science Center and Center for Bioethics and Social Sciences in Medicine, University of Michigan. Accessed 2016-07-14.

What is the genetic test?
Genetic testing allows us to identify people at risk of developing FTAAD. Changes in several genes includingACTA2, MYLK, and MYH11 have been shown to cause FTAAD. Other genes called TGFBR1, TGFBR2, SMAD3, and FBN-1 have also been associated with risk of developing FTAAD. Genetic testing allows us to identify people at risk of FTAAD. The American College of Medical Genetics recommends returning results related to three genes MYH11 (a cause of familial thoracicaortic aneurysm 4); ACTA2 (a cause of familial thoracicaortic aneurysm 6); and MYLK (a cause of familial thoracicaortic aneurysm 7).

How will this affect my health care?
If genetic test results suggest a person is found to be at risk of developing familial thoracic aortic aneurysm, regular health checks are recommended. These may include:

  • Imaging of the ascending thoracic aorta using echocardiogram, CT, or MRI scans.
  • Because thoracic aortic aneurysms can begin at a young age, imaging can start when a child is about 6-7 years of age, or sometimes younger.
  • A person may may have scans every year or so to check changes in the aorta.
  • After an aortic aneurysm if found, imaging should be more often - about every 6-12 months.
  • At a certain point, surgery may be recommended (when the ascending aorta or aortic root reaches a certain size, or if it is growing at a fast rate - see Treatment)
  • Family members may also be tested for risk.

Who is at risk?
Thoracic aortic aneurysms develop in less than 1 in 20,000 people. However, if a person’s mother or father has a change in the gene that is linked to FTAAD he or she has a 50% of inheriting this risk (i.e. a 1 in 2 chance). Similarly, if a person’s brother or sister has a FTAAD risk gene, they will have a 50% risk of inheriting this risk.

Men are about two times more likely to get FTAAD.

Does my ancestry affect my risk?
There is no strong evidence linking familial thoracic aortic aneurysm with ancestry.

More Questions? The National Society of Genetic Counselors has developed a directory to help locate genetic counseling services near you.

Treatment

If genetic testing shows that a person has a risk of developing FTAAD, they should have regular imaging tests to monitor their aorta. Drugs that reduce blood pressure can reduce stress on the aorta and are often given to people with FTAAD. Surgery is needed if the aorta is becoming too large.

What are the treatments for FTAAD?
There are a number of treatments for FTAAD. Blood pressure medications can reduce stress on the aorta, and beta-blockers are often prescribed by doctors treating the condition. Other drugs that can reduce hypertension are also used.

Where a genetic risk of developing FTAAD is found, surgery is often recommend to prevent damage the aorta. Imaging can provide high quality images of the aorta and help decide if or when surgery might be needed. There are several types of imaging that can be used to create a picture of the aorta and nearby tissue. These include echocardiography and transesophageal echocardiogram, which use sound waves, chest x-ray, angiography, and computed tomography (CT), which use x-rays, and magnetic resonance imaging (MRI), which use powerful magnets.

For people with a risk of developing FTAAD related to the MYH11 or ACTA2 genes, surgery is recommended when the ascending aorta reaches a certain size between (4.5 and 5.0 cm). For people with other risk genes TGFBR1 or TGFBR2 surgery may be recommended even sooner.

For all people with thoracic aortic aneurysm and dissection, surgery is recommended when the ascending aorta or aortic root reaches 5.0 cm, or if it is growing at a fast rate ( 0.5 cm per year). Surgery is recommended when the valve in the aorta gets blocked and starts to leak.

If managed properly, including medication and surgery when needed, the life expectancy of an individual with a thoracic aortic aneurysm should be normal.

Can treatments cause any problems?
If a person has surgery to repair a Thoracic Aortic Aneurysm, he or she can expect to spend a week or more in hospital after surgery. The Society for Vascular Surgery has developed some great resources that discuss the condition and treatment. The procedure can cause a number of problems:

  • Bleeding
  • Respiratory issues, including pneumonia.
  • Kidney problems, including losing kidney function - this is usually for a short time, but can be long-term.
  • Reduced blood flow to the spinal cord, which causes the patient to lose movement (paralysis) in his or her legs. This can happen in about 1 in 12 people (8%) who have the surgery.

More Questions? The National Society of Genetic Counselors has developed a directory to help locate genetic counseling services near you.

Genetic Test

Why do a genetic test?
One reason people develop a thoracic aortic aneurysm is that they inherit a faulty gene that causes it (this is the case for about 1 in 5 people who develop FTAAD). Genetic testing tells us who is most at risk for developing FTAAD. Testing for certain genes is particularly important if they are considered to be 'medically actionable' - meaning test results can be used to improve health care. Because people at risk for FTAAD often do not have any symptoms, it is important to know who is at risk before the aorta rips. This offers the chance of early treatment and repair.

In the embedded video, Dr. Dan Roden of Vanderbilt University discusses how genetic testing has begun to influence treatment of patients.

What is the test?
There are several types of genetic tests for risk of thoracic aortic aneurysms. Genetic tests look at your risk of developing FTAAD, which is the cause of thoracic aortic aaneurysm in about 20% of cases. To do a genetic test, a medical professional will use your DNA to try to see if you have risk genes previously associated with FTAAD.

Many of the people who use this website are patients in hospitals who are part of the eMERGE network. These hospitals are using DNA sequencing to test patients for a number of diseases, including FTAAD, as recommended by the American College of Medical Genetics and eMERGE network members. Test results found to be medically ‘actionable’ (meaning they can be used to in patient health care) will be returned to patients.

I am concerned whether I should be tested or not, what should I do?
The decision to be tested might be one of the most important decisions you have to make. There are many things you may want to consider. For some people, genetic testing can have positive health benefits, while others may feel a lot of stress and worry. You can read more about these issues in the Concerns & Risks section. It may help to think about testing for a while before making a decision. You may also find it helpful to discuss issues with those close to you, or with your doctor/health professional.

What will the test result mean?
This test will tell your doctor whether you are at risk of developing FTAAD. We test for a number of other diseases, as recommended for testing by the American College of Medical Genetics and the eMERGE network. If you are found to be at risk, your doctor or genetic counselor should help you understand your health care options.

What happens if I am found to be at risk?
If you are found to be at risk for any of the diseases that we test for, a health professional at your llocal site will attempt to contact you as soon as possible. Once we contact you, your doctor or genetic counselor should help you understand your health care options. These may include include increased monitoring of your health, including:

  • Imaging of the ascending thoracic aorta using echocardiogram, CT, or MRI scans.
  • Because thoracic aortic aneurysms can begin at a young age, imaging can start when a child is about 6-7 years of age, or sometimes younger.
  • A person may may have scans every year or so to check changes in the aorta.
  • After an aortic aneurysm if found, imaging should be more often - about every 6-12 months.
  • At a certain point, surgery may be recommended (when the ascending aorta or aortic root reaches a certain size, or if it is growing at a fast rate - see Treatment)
  • Family members may also be tested for risk.

What happens if I am NOT found to be at risk?
If you are found NOT to be at risk for any of the diseases that we test for, you will likely NOT be contacted. However, a small number of patients may receive a medical report with results, while other patients may be re-contacted about another research study

If you have not been rec-contacted, please DO NOT ASSUME that you have been tested. There are a number of reasons testing may not have happened yet. For example, studies can sometimes take a very long time to complete, and DNA samples are often not usable because of quality-control issues.

How is the test being performed?
Testing is performed on your DNA, usually from a blood sample. For many patients, your hospital or treatment center may already have some of your DNA stored in a biobank. You may be asked for an additional sample or be asked to give us permission to do testing on the existing samples.

Will it hurt?
For some patients, we may need an additional blood sample. Taking blood may cause some pain, bleeding or bruising at the spot where the needle enters your body. Rarely, taking blood may cause fainting or infection.

Is it safe?
There is a risk that you may experience pain or bleeding if you need to give an additional blood sample. Risks concerning privacy are discussed under Concerns & Risks.

How long will I have to wait for results?
Unfortunately, we cannot give an accurate estimate for the time you will have to wait for results - this will depend on the resources available at the location where you receive treatment and were tested.

Is this a standard test?
Although increasingly more common, this test is not yet standard, and is typically offered as part of a research study.

What type of test is this?

  • Is this test intended to help make a diagnosis? Yes
  • Is this test intended to predict a family history of disease? Yes
  • Is this test intended to check if I am a carrier for a particular disease? Yes
  • Is this test intended to screen for genetic disorders? Yes
  • Is this test intended to screen for disorders related to pregnancy? No
  • Is this test intended to screen for disorders related to newborns? No

Will I need to have this test done more than once?
No, you should not need to have this test done more than once. You will need to keep track of your testing result in order to share with all of your doctors, including those you see at other medical care centers.

More Questions? The National Society of Genetic Counselors has developed a directory to help locate genetic counseling services near you.

Family

Will my genetic test results affect my family?
Your genetic test results may affect your family. In the embedded video, Maureen Smith, a researcher at Northwestern University, recommends first discussing genetic test results with your doctor. Your doctor may refer you to a genetic counselor, who can help you understand test results and guide you toward brochures and websites that can provide information for both you and your family.

  • Before your genetic test: Because genetic information is inherited, it is important to be aware that your genetic test results are often relevant to your family members as well. Results may indicate that you are at risk, or that you are a carrier (see below). Before you have a genetic test, it can be a good idea to think about if and how you would like to share results with your family. Your doctor or genetic counselor should be able to provide more information about this.
  • After your genetic test: For many of the diseases we test for, genetic test results may be relevant to your family members, as well as to you. You may be at risk, and you may be a carrier (see below). If you already have results, it is again important to think about sharing them with family. Again, your doctor or genetic counselor should be able to offer advice on how genetic testing may affect your family members.

Can you (briefly) explain heritability?
We each have about 24,000 genes, which carry the instructions for making and maintaining our bodies. For each gene we typically have two copies – one inherited from each parent. If genetic test results suggest you are at risk of developing a heritable disease, you will have inherited the risk from one or both your parents. Your brothers, sisters, children, parents, and other relatives may also be at risk of developing the same disease.
There are several ways we can inherit a genetic disease, which relates to whether it is recessive or dominant.

  • For a dominant condition, only one copy of a gene needs to be faulty to cause a disease. In this case, if you have one copy of a faulty gene, you may be at high risk of developing the disease. You could pass this faulty gene to one your child or children. FTAAD is a dominant condition.
  • For a recessive condition BOTH copies of a gene must be faulty to cause a disease. In this case, if a person has only one copy of a faulty gene, they may not be at much greater risk. However, they may pass the faulty gene to their children. Again, this person is called a carrier. FTAAD is NOT a recessive condition.
Please note that the Resources section provides links to a number of websites that provide a much more detailed explanation of inheritance! Learn.Genetics at the University of Utah have a much more detailed explanation, which we find quite good – you can check it out here.

What family members could be affected?
If you have FTAAD, there is a 50% your child will too. Other family members are also at a much higher risk of having FTAAD.

My children are under 18 years of age – should they be tested?
The American College of Medical Genetics recommend testing children for most of the diseases listed on this website. Increased monitoring of the aorta often begins in children at about 6-7 years of age.

More Questions? The National Society of Genetic Counselors has developed a directory to help locate genetic counseling services near you.

Concerns & Risks

What Should I Do If I Have Concerns About Genetic Test Results?
If you are concerned about genetic test results you have received, you should discuss your concerns with your doctor. Your doctor should be able to explain results to you, and may recommend you to a genetic counselor or another doctor that can further help you understand your results. Maureen Smith, a researcher at Northwestern University, discusses these concerns in the embedded video.

Is there a reason why I may be a specific risk?
For most of the disorders discussed on this site, the American College of Medical Genetics recommends genetic testing for individuals with available genetic data.

Are there any implications for having children?
Yes, please see the Family section

Can I expect to experience emotional consequences related to my test result?
A range of reactions are possible and normal. Some patients may experience anxiety or other negative reactions related to genetic testing and results. If this is the case, please discuss with your doctor, who can address your concerns and refer you another health professional if required.

Can I expect to experience social consequences related to my test result?
Some people may feel that there is a stigma attached to having a genetic disease. If you do experience or anticipate any negative social reactions, please discuss with your doctor who can address your concerns.

Can I expect to experience an increase in anxiety?
Many individual experience increased anxiety related to genetic testing. Again, please discuss with your doctor if this is the case.

Are there any implications in terms of discrimination arising from the test result?
Health insurance companies are prevented by law from discriminating against you based on your genetic test results. However, the same law does not apply to long-term disability insurance or to life insurance. Maureen Smith, a researcher at Northwestern University discussed these issues in the video on this page.

If I am found to be at increased risk for developing a disease, are there similar health implications for my family?
Yes, your results may have similar health implications for your family. Please see the Family section.

More Questions? The National Society of Genetic Counselors has developed a directory to help locate genetic counseling services near you.

Sharing

Should I tell other health care providers about my test result?
We do recommend that you share this information with your health care providers. However, as explained by Maureen Smith, a researcher at Northwestern University, what you decide to do with your results is up to you.

Who will see my test results?
People who have access to your medical record will be able to see your genetic test result. This may include health professionals such as doctors, nurses, pharmacists, and genetic counselors. However, health professionals from other centers or hospitals will likely not have access to your results.

Should my other family members be tested?
If you are found to be at risk for a heritable genetic disease, your family may also be at risk. We discuss this further in the Family section.

Will this affect my health insurance?
No, your health insurance will not be affected by this test result. However, as discussed below by Maureen Smith, a researcher at Northwestern University, your life insurance and other areas may be affected.

Who can I contact if they have any more questions?
You can contact your local center, where you received the test. The Resources section also includes a lot of websites that we recommend.

Is it there a risk to my privacy?
Research that uses information from medical records and that involves genetic testing can affect your privacy. Your participation in this research will be held strictly confidential, and only coded numbers will be used to identify specimens and research records. While it is impossible to absolutely guarantee that information in our secure system will never be known by others, we are taking every possible precaution to see that this does not happen.

More Questions? The National Society of Genetic Counselors has developed a directory to help locate genetic counseling services near you.

Resources

We are compiling a list of websites to help you understand genetics and genetic test results. If you would like to suggest other resources for this section, please feel free to This email address is being protected from spambots. You need JavaScript enabled to view it.!
INFORMATION ABOUT FAMILIAL THORACIC AORTIC ANEURYSM AND DISSECTION:

Weblink to Society for Vascular Surgery PagesSociety for Vascular Surgery
Great patient resources and up-to-date information about vascular problems and surgery. This is a direct link to their Thoracic Aortic Aneurysm and Dissection resources.


Weblink to Marfan Foundation, FTAAD ResourceThe Marfan Foundation
The Marfan Foundation have put together a very useful fact-sheet brochure, which can be downloaded in pdf form from their website.


Weblink to Cleveland Clinic FTAAD pagesCleveland Clinic
Useful information and videos from the Cleveland Clinic about how aortic aneurysm is managed.


Weblink to Genetics Home ReferenceGenetics Home Reference
Extensive resource about rare and genetic and genetic diseases. The above link leads to their FTAAD pages. A link to the main site is provided below as well.


Weblink to Genetic and Rare Diseases Center (GARD) - FTAAD ResourcesGenetic and Rare Diseases Center (GARD)
Supported by the NIH, this website has great resources for a huge range of genetic and rare diseases. The above link is to their FTAAD resource. A link to the main GARD site is provided below as well.


Weblink to Mayo Clinic FTAADMayo Clinic - Disease and Conditions
Mayo Clinic maintains an extensive catalog of diseases and conditions. The above link leads to their section on Thoracic Aortic Aneurysm.


INFORMATION ABOUT GENETICS AND GENETIC TESTING:

Weblink to Genetics Home Reference Genetics Home Reference
Consumer-friendly information about the effects of genetic variations on human health. Federally-supported resources, include reviews of more than 800 genetic diseases and more than 1000 genes.


Weblink to Learning Resources from the NHGRILearning Resources from the NHGRI
Lots of very good resources from the NHGRI, including major sections about The Human Genome Project, Facts Sheets, and educational resources for teachers and students.


Weblink to National Society of Genetic CounselorsFind a Genetic Counselor
The National Society of Genetic Counselors have a searchable database of genetic counselors. Their website also includes some education materials for patients and healthcare professionals.


Weblink to NHGRI Talking GlossaryNHGRI Talking Glossary
Talking glossary of genetic terms developed by the National Human Genome Research Institute. A huge range of definitions is provided by researchers from around the world.


Weblink to Help Me Understand GeneticsHelp Me Understand Genetics
Help Me Understand Genetics is a handbook from the National Institutes of Health that contain useful information about genetics in clear language and provides links to even more online resources. The entire handbook can also be downloaded as a pdf.


Weblink to the Genetic and Rare Diseases Information CenterGenetic and Rare Diseases Information Center (GARD)
A joint project from The Office of Rare Diseases Research (ORDR) and the National Human Genome Research Institute (NHGRI) that provides searchable information about genetic conditions and rare diseases. It also includes a list of FDA-Approved drugs and other medical products for treating rare disease.


Weblink to NORDNational Organization for Rare Disorders - Resources for Parents/Families
The National Organization for Rare Disorders (NORD) is a volunteer organization dedicated to empowering the rare disease community. Again, they have some very nice web resources.


Weblink to ELSIEthical, Legal and Social Implications Research Program
The ELSI Research Program supports examinations and investigations of the ethical, legal and social implications of genetics research.


Weblink to GINAGenetic Information Nondiscrimination Act of 2008
The Genetic Information Nondiscrimination Act of 2008, also referred to as GINA, is a new federal law that protects Americans from being treated unfairly because of differences in their DNA that may affect their health.


Weblink to Learn.GeneticsLearn.Genetics, University of Utah
Excellent resources, especially for those involved in education. Includes a catalog of animations, videos, interactive features, and virtual labs.


Weblink to the Dolan DNA Learning CenterDolan DNA Leaning Center
The DNALC provides genetics learning resources for teachers and students.


INFORMATION FOR RESEARCHERS:

Weblink to the ClinVar ACMG recommendations pageClinVar: ACMG Recommendations for Reporting of Incidental Findings in Clinical Exome and Genome Sequencing
Clinvar's dedicated ACMG page - a useful jumping-off point to the Genetic Testing Registry, OMIM, MedGen, and local ClinVar pages for each gene.


Weblink to Familial Thoracic Aortic Aneurysm and Dissection pageGeneReviews
Milewicz & Regalado. GeneReviews: Thoracic Aortic Aneurysms and Aortic Dissections (updated January, 2012).


Pubmed Weblink - The genetic architecture of non-syndromic thoracic aortic aneurysm.The genetic architecture of non-syndromic thoracic aortic aneurysm.
Luyckx & Loeys. Heart, 2015.


Pubmed Weblink - Familial Nonsyndromic Thoracic Aortic Aneurysms: Unraveling the Mystery and Defining Long-Term Outcome.Familial Nonsyndromic Thoracic Aortic Aneurysms : Unraveling the Mystery and Defining Long-Term Outcome.
A Evangelista.Journal of the American College of Cardiology, 2016.


About

What is the purpose of this information?
Our aim is to provide information about why we do genetic testing. We try to answer some common questions and offer guidance on some personal and practical issues. This information is for anybody with questions about genetic testing for any of the diseases and drugs listed in this site.

Are there geographical differences in testing, service or treatment?
Different centers have different policies in terms of how tests are administered and results shared. However, the results discussed in this document should be relevant to most individuals tested for risk of developing genetic disease.

How is this paid for?
If you received this test as part of the eMERGE research study, neither you nor your insurance company will have to pay anything toward this test

When was this content last updated?
July 14, 2016.

More Questions? The National Society of Genetic Counselors has developed a directory to help locate genetic counseling services near you.
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