Disease Profile

Familial thoracic aortic aneurysm and aortic dissection

Prevalence ?
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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of Onset






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.


X-linked 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;


Blood Diseases; Congenital and Genetic Diseases; Heart Diseases;


Familial thoracic aortic aneurysm and aortic dissection (Familial TAAD) is a rare condition that affects the aorta (the large blood vessel that distributes blood from the heart to the rest of the body). In people affected by this condition, the thoracic aorta (the upper part of the aorta, near the heart) may become weakened, stretched and/or enlarged. This can lead to a sudden tear of the inner wall of the aorta that allows blood to flow between the aorta's inner and outer walls (also called a dissection). These aortic abnormalities can be life-threatening as they can decrease blood flow to other parts of the body and/or cause the aorta to rupture. The onset of the condition varies significantly from person to person, even within the same family. Familial TAAD can be caused by changes (mutations) in several different genes and is inherited in an autosomal dominant manner.[1][2] Treatment is generally based on the signs and symptoms present in each person and may include medications to reduce stress on the aorta and surgery to repair aortic abnormalities. Surveillance is generally recommended for at-risk relatives.[2][3]


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:
80%-99% of people have these symptoms
Cutis marmorata
Mucoid extracellular matrix accumulation
30%-79% of people have these symptoms
Abnormal left ventricular function
Abnormality iris morphology
Abnormality of the iris
Aortic regurgitation
Ascending aortic dissection
Enlarged heart
Increased heart size

[ more ]

Chest pain
Coronary artery atherosclerosis
Plaque build-up in arteries supplying blood to heart
Descending aortic dissection
Exertional dyspnea
Paroxysmal dyspnea
5%-29% of people have these symptoms
Abdominal aortic aneurysm
Abnormal sternum morphology
Abnormality of the sternum
Sternal anomalies

[ more ]

Aortic root aneurysm
Bulge in wall of root of large artery that carries blood away from heart
Long slender fingers
Spider fingers

[ more ]

Bicuspid aortic valve
Aortic valve has two leaflets rather than three
Bruising susceptibility
Bruise easily
Easy bruisability
Easy bruising

[ more ]

Carotid artery dilatation
Descending thoracic aorta aneurysm
Dilatation of the cerebral artery
Dural ectasia
Coughing up blood
High, narrow palate
Narrow, high-arched roof of mouth
Narrow, highly arched roof of mouth

[ more ]

Wide-set eyes
Widely spaced eyes

[ more ]

Depleted blood volume
Inguinal hernia
Ischemic stroke
Patent ductus arteriosus
Peripheral arterial stenosis
Pes planus
Flat feet
Flat foot

[ more ]

Collapsed lung
Prenatal maternal abnormality
Receding chin
Receding lower jaw
Weak chin
Weak jaw

[ more ]

Subarachnoid hemorrhage
Tall stature
Increased body height
Transient ischemic attack
Mini stroke


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.


    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

      Organizations Providing General Support

        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.


            1. Familial thoracic aortic aneurysm and dissection. Genetics Home Reference. January 2015; https://ghr.nlm.nih.gov/condition/familial-thoracic-aortic-aneurysm-and-dissection.
            2. 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/.
            3. 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.