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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

US Estimated

Europe Estimated

Age of onset

Childhood

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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.

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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.

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.

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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.

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Not applicable

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Other names (AKA)

Familial TAAD; Familial aortic aneurysm; Familial thoracic aortic aneurysm;

Categories

Blood Diseases; Congenital and Genetic Diseases; Heart Diseases;

Summary

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]

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
Hypertension
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 susceptibility
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
Scoliosis
0002650
Subarachnoid hemorrhage
0002138
Tall stature
Increased body height
0000098
Transient ischemic attack
Mini stroke
0002326
Do you have updated information on this disease? We want to hear from you.

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

      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.

            References

            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.