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Disease Profile
Familial thoracic aortic aneurysm and aortic dissection
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
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Age of onset
Childhood
ICD-10
I71.2
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Familial TAAD; Familial aortic aneurysm; Familial thoracic aortic aneurysm;
Categories
Blood Diseases; Congenital and Genetic Diseases; Heart Diseases;
Summary
Symptoms
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
| Medical Terms | Other Names |
Learn More:
HPO ID
|
|---|---|---|
| 80%-99% of people have these symptoms | ||
| Cutis marmorata | 0000965 | |
| Mucoid extracellular matrix accumulation | 0200146 | |
| 30%-79% of people have these symptoms | ||
| Abnormal left ventricular function | 0005162 | |
| Abnormality iris morphology |
Abnormality of the iris
|
0000525 |
| Aortic regurgitation | 0001659 | |
| Ascending aortic dissection | 0004933 | |
| Cardiomegaly |
Enlarged heart
Increased heart size
[ more ] |
0001640 |
| Chest pain | 0100749 | |
| Coronary artery atherosclerosis |
Plaque build-up in arteries supplying blood to heart
|
0001677 |
| Descending aortic dissection | 0012499 | |
| Exertional dyspnea | 0002875 | |
| 0000822 | ||
| Paroxysmal dyspnea | 0012763 | |
| 5%-29% of people have these symptoms | ||
| Abdominal aortic aneurysm | 0005112 | |
| Abnormal sternum morphology |
Abnormality of the sternum
Sternal anomalies
[ more ] |
0000766 |
| Aortic root aneurysm |
Bulge in wall of root of large artery that carries blood away from heart
|
0002616 |
| Arachnodactyly |
Long slender fingers
Spider fingers
[ more ] |
0001166 |
| Bicuspid aortic valve |
Aortic valve has two leaflets rather than three
|
0001647 |
| Bruising |
Bruise easily
Easy bruisability
Easy bruising
[ more ] |
0000978 |
| Carotid artery dilatation | 0012163 | |
| Descending thoracic aorta aneurysm | 0004959 | |
| Dilatation of the cerebral artery | 0004944 | |
| Dural ectasia | 0100775 | |
| Hemoptysis |
Coughing up blood
|
0002105 |
| High, narrow palate |
Narrow, high-arched roof of mouth
Narrow, highly arched roof of mouth
[ more ] |
0002705 |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
| Hypovolemia |
Depleted blood volume
|
0011106 |
| Inguinal hernia | 0000023 | |
| Ischemic stroke | 0002140 | |
| Patent ductus arteriosus | 0001643 | |
| Peripheral arterial stenosis | 0004950 | |
| Pes planus |
Flat feet
Flat foot
[ more ] |
0001763 |
| Pneumothorax |
Collapsed lung
|
0002107 |
| Prenatal maternal abnormality | 0002686 | |
| Retrognathia |
Receding chin
Receding lower jaw
Weak chin
Weak jaw
[ more ] |
0000278 |
| 0002650 | ||
| Subarachnoid hemorrhage | 0002138 | |
| Tall stature |
Increased body height
|
0000098 |
| Transient ischemic attack |
Mini stroke
|
0002326 |
Diagnosis
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Testing Resources
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
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
-
The John Ritter Foundation for Aortic Health
11901 Santa Monica Blvd. #410
Los Angeles, CA 90025
Telephone: 310-736-1550
E-mail: https://johnritterfoundation.org/contact/
Website: https://johnritterfoundation.org/
Organizations Providing General Support
-
American Heart Association
7272 Greenville Avenue
Dallas, TX 75231-4596
Toll-free: 800-242-8721
Telephone: 214-570-5978
E-mail: https://www.heart.org/en/forms/general-questions-and-latest-research-information
Website: https://www.heart.org
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
- Genetics Home Reference (GHR) contains information on Familial thoracic aortic aneurysm and aortic dissection. This website is maintained by the National Library of Medicine.
- The Marfan Foundation offers an information page on Familial thoracic aortic aneurysm and aortic dissection. Please click on the link to access this resource.
In-Depth Information
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- 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) lists the subtypes and associated genes for Familial thoracic aortic aneurysm and aortic dissection in a table called Phenotypic Series. Each entry in OMIM includes 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.
- 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 Familial thoracic aortic aneurysm and aortic dissection. Click on the link to view a sample search on this topic.
References
- Familial thoracic aortic aneurysm and dissection. Genetics Home Reference. January 2015; https://ghr.nlm.nih.gov/condition/familial-thoracic-aortic-aneurysm-and-dissection.
- Dianna M Milewicz, MD, PhD and Ellen Regalado, MS, CGC. Thoracic Aortic Aneurysms and Aortic Dissections. GeneReviews. January 2012; https://www.ncbi.nlm.nih.gov/books/NBK1120/.
- Dong SB, Zheng J, Ma WG, Chen MJ, Cheng LJ, He L, Xing QH, Sun LZ. Identification and surgical repair of familial thoracic aortic aneurysm and dissection caused by TGFBR1 mutation. Ann Vasc Surg. 2014 Nov;28(8):1909-12. November 2014; 28(8):1909-1912.