Abdominal aortic aneurysm

Title

Other Names:

Aneurysm, abdominal aortic

Categories:

Blood Diseases; Congenital and Genetic Diseases; Heart Diseases

Summary Summary

Abdominal aortic aneurysms (AAAs) are aneurysms that occur in the part of the aorta that passes through the abdomen. They may occur at any age, but are most common in men between 50 and 80 years of age. Many people with an AAA have no symptoms, but some people have a pulsing sensation in the abdomen and/or pain in the back.^[1] If the aneurysm ruptures, it may cause deep, severe pain; nausea; vomiting; fast heart rate; clammy skin; and/or shock.^[1]^[2] About 20% of AAAs eventually rupture and are often fatal.^[1] The condition has multiple genetic and environmental risk factors, and may sometimes occur as part of an inherited syndrome. When more than one family member is affected, it may be considered "familial abdominal aortic aneurysm."^[3] Treatment depends on the size of the aneurysm and may include blood pressure medications, or surgery to repair the aneurysm.^[1]

Last updated: 2/25/2014

Symptoms Symptoms

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Dysphasia	Very frequent (present in 80%-99% of cases)
Frontotemporal cerebral atrophy	Very frequent (present in 80%-99% of cases)
Frontotemporal dementia	Very frequent (present in 80%-99% of cases)
Grammar-specific speech disorder	Very frequent (present in 80%-99% of cases)
Memory impairment	Very frequent (present in 80%-99% of cases)
Spoken Word Recognition Deficit	Very frequent (present in 80%-99% of cases)
Temporal cortical atrophy	Very frequent (present in 80%-99% of cases)
Thickened nuchal skin fold	Very frequent (present in 80%-99% of cases)
Abnormal brain FDG positron emission tomography	Frequent (present in 30%-79% of cases)
Abnormality of the cerebral white matter	Frequent (present in 30%-79% of cases)
Alexia	Frequent (present in 30%-79% of cases)
Anxiety	Frequent (present in 30%-79% of cases)
Apraxia	Frequent (present in 30%-79% of cases)
Depression	Frequent (present in 30%-79% of cases)
EEG with continuous slow activity	Frequent (present in 30%-79% of cases)
Abnormal lower motor neuron morphology	Occasional (present in 5%-29% of cases)
Astrocytosis	Occasional (present in 5%-29% of cases)
Dysgraphia	Occasional (present in 5%-29% of cases)
Motor aphasia	Occasional (present in 5%-29% of cases)
Mutism	Occasional (present in 5%-29% of cases)
Parkinsonism	Occasional (present in 5%-29% of cases)
Perseveration	Occasional (present in 5%-29% of cases)
Personality changes	Occasional (present in 5%-29% of cases)
Restlessness	Occasional (present in 5%-29% of cases)
Dilatation of abdominal aortic	-

Last updated: 9/1/2017

Inheritance Inheritance

Abdominal aortic aneurysm (AAA) is thought to be a multifactorial condition, meaning that one or more genes likely interact with environmental factors to cause the condition. In some cases, it may occur as part of an inherited syndrome.^[3]

Having a family history of AAA increases the risk of developing the condition. A genetic predisposition has been suspected since the first report of three brothers who had a ruptured AAA, and additional families with multiple affected relatives have been reported.^[4] In some cases, it may be referred to as " familial abdominal aortic aneurysm."^[3] A Swedish survey reported that the relative risk of developing AAA for a first-degree relative of a person with AAA was approximately double that of a person with no family history of AAA. In another study, having a family history increased the risk of having an aneurysm 4.3-fold. The highest risk was among brothers older than age 60, in whom the prevalence was 18%.^[4]

While specific variations in DNA (polymorphisms) are known or suspected to increase the risk for AAA, no one gene is known to cause isolated AAA. It can occur with some inherited disorders that are caused by mutations in a single gene, such as Marfan syndrome and Ehlers-Danlos syndrome, vascular type. However, these more typically involve the thoracoabdominal aorta.^[4]

Because the inheritance of AAA is complex, it is not possible to predict whether a specific person will develop AAA. People interested in learning more about the genetics of AAA, and how their family history affects risks to specific family members, should speak with a genetics professional.

Last updated: 2/26/2014

Treatment Treatment

The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.

Management Guidelines

The Society of Interventional Radiology provides information about the management of abdominal aortic aneurysm. Click on the link above to access this information.

Do you have updated information on this condition? Let us know.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.
ClinicalTrials.gov lists trials that are studying or have studied Abdominal aortic aneurysm. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

American Heart Association
7272 Greenville Avenue
Dallas, TX 75231-4596
Toll-free: 800-242-8721
Telephone: 214-373-6300
Fax: 214-373-0268
E-mail: Review.personal.info@heart.org
Website: http://www.heart.org/
National Marfan Foundation
22 Manhasset Avenue
Port Washington, NY 11050
Toll-free: 800-8-MARFAN (800-862-7326)
Telephone: 516-883-8712
Fax: 516-883-8040
E-mail: staff@marfan.org
Website: http://www.marfan.org
The John Ritter Foundation for Aortic Health
11901 Santa Monica Blvd. #410
Los Angeles, CA 90025
Telephone: 310-736-1550
E-mail: http://johnritterfoundation.org/contact/
Website: http://johnritterfoundation.org/

Do you know of an organization? Send us your suggestions.

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Genetics Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by GeneTests, the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers.

In-Depth Information

Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
The Online Mendelian Inheritance in Man (OMIM)
Online Mendelian Inheritance in Man (OMIM)
The Online Mendelian Inheritance in Man (OMIM)
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Abdominal aortic aneurysm. Click on the link to view a sample search on this topic.
UpToDate has an article on Abdominal aortic aneurysm. Click on UpToDate to view the page.

Selected Full-Text Journal Articles

The American Family Physician provides an online journal article about abdominal aortic aneurysm. Click on the link above to access this article.

News & Events News & Events

News

Don’t Miss the NCATS Toolkit for Patient-Focused Therapy Development Event
August 31, 2017
Funding Opportunities Now Available for the Undiagnosed Diseases Network (UDN) Phase II
August 30, 2017
IRDiRC Goals 2017-2027: New Rare Disease Research Goals for the Next Decade
August 10, 2017

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

I have a question about the inheritance pattern of this disorder. My father and multiple members of his family have this disorder. I do not. Can I still pass the gene for this disorder to my children? My husband does not have this disorder in his family. See answer

Have a question? Contact a GARD Information Specialist.

References References

John W. Hallett. Abdominal Aortic Aneurysms. Merck Manuals. January, 2008; http://www.merckmanuals.com/home/heart_and_blood_vessel_disorders/aneurysms_and_aortic_dissection/aneurysms.html?qt=abdominal%20aortic%20aneurysm&alt=sh#v722650. Accessed 2/25/2014.
Weinrauch LA. Abdominal aortic aneurysm. MedlinePlus. August 28, 2008; http://www.nlm.nih.gov/medlineplus/ency/article/000162.htm. Accessed 1/16/2009.
Ada Hamosh. AORTIC ANEURYSM, FAMILIAL ABDOMINAL, 1; AAA1. OMIM. December 20, 2011; http://omim.org/entry/100070. Accessed 2/25/2014.
Emile R Mohler III. Epidemiology, risk factors, pathogenesis and natural history of abdominal aortic aneurysm. UpToDate. Waltham, MA: UpToDate; February, 2014; Accessed 2/25/2014.