Do you or someone you love have arterial tortuosity syndrome ATS?

Getting a diagnosis of ATS can be scary and overwhelming. Because it is so rare, it can feel like you are alone. But, there are other people with ATS who have shared their stories and there are resources for you and your family.

What do you want to do?

The first annual ATS Conference

View photos from the conference that took place from July 31 to August 1 in Little Rock, Arkansas.

NOTE: The first European ATS Conference is scheduled for July or August 2017. More details to come!

Connect with the ATS community on Facebook

Tortuosity? Aneurysm? Hernia?

Explore the ATS Glossary to get quick definitions for those tricky ATS words.

acrocyanosis Blueness of the extremities. Marked by mottled blue or red discoloration of the skin on the fingers, wrists, toes, and ankles.1
aneurysm Localized widening (dilation) of an artery, vein, or heart. Typically, there is a bulge at the area of aneurysm and the wall is weakened and may rupture.1
angiography (or arteriography) a medical imaging technique used to visualize the inside of blood vessels and organs of the body. It is useful to look at the arteries in many areas of the body including the brain, neck (carotids), heart, aorta, chest, pulmonary circuit, and kidneys.1
ankyloglossia The mucous membrane under the tongue is too short, limiting tongue movement. Also known as tongue tie.1
aorta The largest artery in the body. It branches into a network of smaller arteries that extend throughout the body.1
aortic coarctation Narrowing of the aortic arch, the main blood artery that delivers blood from the left ventricle of the heart to the rest of the body.1
angioplasty A treatment designed to open blocked or narrowed arteries.1
arachnodactyly Long, slender, and curved fingers and toes.1
artery A vessel that carries oxygen rich blood away from the heart to the tissues of the body. The largest artery is the aorta.2
arterial tortuosity syndrome rare genetic connective tissue condition characterized by abnormal lengthening, twisting, and turning of the major arteries and often the smaller veins.1
autosome Any chromosome except X and Y sex chromosomes. Human cells contain 22 pairs of autosomes and 1 pair of sex chromosomes. 1
autosomal recessive Two copies of an altered gene located on one of the autosomes must be present for an individual to be affected with the trait or condition determined by that gene.1
Bentall procedure Cardiac surgery operation involving composite graft replacement of the aortic valve, aortic root, and ascending aorta with reimplantation of the coronary arteries into the graft. It is performed through a median sternotomy during cardiopulmonary bypass.3
bilateral clinodactyly A condition seen at birth in which a bone in the small finger of both hands does not develop properly. This results in 2 small fingers bent toward the ring fingers. The condition can be treated with surgery.1
biventricular hypertrophy Thickening of the lower chambers of the heart on both sides.1
blepharophimosis Horizontal narrowing of the palpebral fissures (eye slits).1
brachycephaly A relatively short or broad head.1
camptodactyly Permanent flexion (bending) of one or more finger joints.1
cardiopulmonary bypass A technique that temporarily takes over the function of the heart and lungs during surgery, maintaining the circulation of blood and the oxygen content of the blood.4
carotid Pertaining to the carotid artery, which is the key artery located in the front of the neck.1
chromosome A threadlike linear strand of DNA and associated proteins in the nucleus of cells that carries genes and transmits hereditary information.
cleft palate An opening in the roof of the mouth due to a lack of tissue in the mouth which prevents the tissue from joining together properly. The opening in the palate permits communication between the nasal passages and the mouth. Surgery is required for repair.1
computed tomography angiography A test that uses x-rays to provide detailed pictures of the heart and blood vessels that go to the heart, lung, brain, kidneys, head, neck, legs, and arms.2
contractures A permanent shortening in the muscle, tendon, or scar tissue producing deformity or distortion in the place of shortening.5
congenital At birth.1
connective tissue Tissue that forms the supporting and connecting structures of the body.1
consanguineous Of the same blood or origin, involving persons (as first cousins) that are closely related.5
contracture Abnormal shortening of muscle that makes it hard to flex or move a joint.
conus A conical prolongation of the right ventricle in mammals from which the pulmonary arteries emerge.5
cutis laxa Loose skin.1
dissection A pathological splitting or separation of tissue, as in a vascular dissection, which is a tear within the wall of a blood vessel that allows blood to separate the wall layers.5
distal Located away from the point of attachment, origin or central point.5
dNA Abbreviation for deoxyribonucleic acid, the molecule that carries genetic information in a cell. When a DNA sequence changes, genes mutate.
dominant or recessive gene Many traits passed down from parent to child are set by pairs of genes. One gene (the dominant gene) can effectively shut out instructions from the other, recessive gene. For example, if someone has one gene for blue eyes and one for brown, that person will have brown eyes because they are the dominant trait. To have blue eyes, both genes must be blue (recessive).1
dyspnea Difficult or labored breathing. Shortness of breath.1
echocardiogram An ultrasound test that can evaluate the structures of the heart as well as the direction of blood flow within it.1
ecchymosis Black or blue discolored spots on the skin caused by the escape of blood into the tissues from ruptured blood vessels.1
electrocardiograph An instrument used to record the electrical activity of the heart. The recording produced is called an electrocardiogram.2
endarterectomy An operation to clean out an artery and restore normal blood flow through the artery.1
focal stenosis Compressed or confined blood flow in specific areas of the body.1
gene The basic unit of heredity, made of a sequence of DNA that holds an exact location on a chromosome and defines a precise characteristic.1
GLUT10 A protein that moves sugars, such as glucose, around the body as needed. People with ATS do not have functioning GLUT10 protein.1
hernia A protrusion of an organ or piece of tissue from its normally contained space.1
hypermobility The ability to move beyond the normal range of motion, as in unusual flexibility of the joints.1
hyperextensible skin Skin that is unusually capable of being extended and stretched.1
hyperplasia Increase in the number of normal cells in a tissue or organ.1
hypertension High blood pressure.1
hypertelorism Excessive width between 2 bodily parts or organs, as in widely spaced eyes.5
hypertrophy Enlargement or overgrowth of an organ or part of the body due to the increased size of the constituent cells.1
hypotonia Decreased muscle tone and strength that results in “floppiness.”1
infarction The formation of an infarct, an area of tissue death, due to the local lack of oxygen.1
ischemia Inadequate blood supply leading to low oxygen in a local area due to blockage of blood vessels.1
joint laxity Joint slackness or loosening of the joint bones.1
keratoconus Abnormally thin and cone-shaped clear covering of the eye.1
Loeys-dietz syndrome An inherited disease caused by mutations in genes for transforming growth beta receptor (TGFBR) 1 or 2. This syndrome was identified and named after American doctor Harry C. Dietz and Belgian physician Bart L. Loeys.1
macrocephaly An abnormally large head.1
Marfan syndrome An inherited illness, in some ways similar to ATS, that affects the connective tissues. It is linked with bone elongation, joint flexibility, and eye and heart abnormalities.1
median sternotomy A type of surgical procedure in which an incision is made in the thorax, which provides access to the heart and lungs for surgical procedures.6
micrognathia Abnormal smallness of one or both jaws.1
mitochondria A small organ in the cell that is important for production of energy.1
myocarditis Inflammation of heart muscle.1
myopia Nearsightedness; the ability to see close objects more clearly than distant objects.1
overfolded helices Excessive folding of the edges of the ears.1
palpebral fissure The opening for the eyes between the eyelids.1
pectus carinatum A protruding chest.1
pectus deformity A badly formed area of the chest.sup>1
pectus excavatum A caved in, sunken chest.sup>1
pectus excavatum Vertical groove in the middle area of the upper lip, extending from the nose.sup>1
preauricular In front of the auricle of the ear.5
renal Related to, involving, affecting, or located in the region of the kidneys.5
scoliosis A disorder that causes an abnormal curve in the spine.1
SLC2A10 A key gene that, when mutated, can lead to ATS.1
stenosis Narrowing or constriction of the diameter of a blood vessel.1,5
strabismus A condition in which the visual axes of the eyes are not parallel and the eyes appear to be looking in different directions.1
subluxation Partial or incomplete dislocation of a bone in a joint.1
telangiectasia Small groups of enlarged red, blue or purple blood vessels located just below the skin.5
transforming growth factor-ß (TGF-ß) A protein that helps the heart and veins develop while a child is still an embryo.1
uvula singula The small, fleshy, conical body projecting downward from the middle of the soft palate.1
vein A smaller blood vessel that carries blood toward the heart.1
ventricular Pertaining to the ventricles, the lower chambers of the heart.1
  3. Cherry, C et al., Aom J. 2006; 81(1);52-55,58-70
  6. Emedicine.medscape.c


Where can I learn more about ATS?

You can learn more about ATS by reading the summaries of key scientific publications available below. These summaries should give you more information about the current state of research into ATS. You can bring copies of these summaries to your doctor if you need help understanding them or if you want to discuss the information.

“Arterial tortuosity syndrome: early diagnosis and association with venous tortuosity” (2013)

To better understand the symptoms of arterial tortuosity syndrome (ATS) as well as the mutation in the SLCA210 gene (the gene associated with ATS), doctors followed a newborn female who was diagnosed with ATS as an infant. Read the full summary here.

“Cardiovascular findings in a boy with arterial tortuosity syndrome: case report and review of the literature” (2011)

Doctors closely examined the symptoms and characteristics of a 5-year-old boy with arterial tortuosity syndrome (ATS), finding that his symptoms, such as twisting of the aorta, stretchy skin, and atypical facial features, were consistent with typical signs of ATS.Read the full summary here.

“Arterial tortuosity syndrome: phenotypic features and cardiovascular manifestations” (2008)

Doctors followed a 1-year-old, adopted female patient with arterial tortuosity syndrome to closely examine her symptoms, such as twisting of the aorta, loose joints, and a hernia, which were consistent with typical signs of ATS. Read the full summary here.

“Cardiovascular findings in arterial tortuosity syndrome” (2006)

This study followed a young male patient with ATS to point to the importance of early medical imaging and screening to differentiate between different connective tissue disorders and to detect symptoms of ATS early on. Read the full summary here.

“Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families” (2008)

This study observed newly identified ATS patients with mutations of the gene SLC2A10(the gene associated with ATS) to better understand the genetic causes of this disease. Read the full summary here.

“Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome” (2006)

People with ATS do not have functioning GLUT10 protein (a protein that moves sugars such as glucose around the body). Without working GLUT10, a very important protein called transforming growth factor-β (TGF-β) cannot work properly, leading to issues in the development of the arteries. This study suggests that future research should focus on therapeutic ways to intervene with TGFβ signaling to advance treatment strategies for ATS. Read the full summary here.Top


1. Moceri P, Albuisson J, Saint-Faust M, et al. Arterial tortuosity syndrome: early diagnosis and association with venous tortuosity. J Am Coll Cardiol. 2013;61(7):783. doi:10.1016/j.jacc.2012.06.070.

2. Ekici F, Uçar T, Fitöz S, Atalay S, Tutar E. Cardiovascular findings in a boy with arterial tortuosity syndrome: case report and review of the literature. Turk J Pediatr. 2011;53(1):104-107.

3. Satish G, Nampoothiri S, Kappanayil M. Images in cardiovascular medicine. Arterial tortuosity syndrome: phenotypic features and cardiovascular manifestations. Circulation. 2008;117(23):e477-e478. doi:10.1161/CIRCULATIONAHA.107.739839.

4. Hoop R, Steinmann B, Valsangiacomo Buechel ER. Cardiovascular findings in arterial tortuosity syndrome. Eur Heart J. 2006;27(17):2045.

5. Callewaert BL, Willaert A, Kerstjens-Frederikse WS, et al. Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families. Hum Mutat. 2008;29(1):150-158. doi:10.1002/humu.20623.

6. Coucke PJ, Willaert A, Wessels MW, et al. Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome. Nat Genet. 2006;38(4):452-457. doi:10.1038/ng1764.

Resources for patients, caregivers, and people who think they may have arterial tortuosity syndrome (ATS).

These are the current resources available to you.

You can download each resource and bring it to your child’s doctor, school, or friend to help start a conversation about ATS.

  • ATS Questions and Answers form
    • Print out this card and have it on hand to help explain to new doctors, nurses, teachers, family members, and friends the basics of ATS.
  • ATS Emergency Card
    • Print out this chart and fill it out with your child’s information. Then bring it to their school and teachers to ensure they understand your child’s needs, especially in an emergency.
  • Doctors and hospitals with ATS Experience
    • Find a hospital or doctor near you that has experience with ATS.


Arterial Tortuosity Syndrome (ATS) Questions and Answers

ATS is an extremely rare disease. Giving someone who is new to ATS some background information is essential to help them understand the disease. Print out this card and have it on hand to help explain to new doctors, nurses, teachers, family members, and friends the basics of ATS.

What is ATS?

ATS is a rare genetic disorder that causes problems with people’s arteries, including elongation, tortuosity (twisting), and/or aneurysms, among other symptoms.

What causes ATS?

ATS is an inherited genetic disorder. It is caused by a mutation in a gene called SLC2A10 that encodes (creates) a protein known as GLUT10, which moves sugars such as glucose around the body. People with ATS do not have functioning (working) GLUT10 protein, and this disrupts the body’s development of connective tissue and the circulatory system.

How does ATS affect people’s lives.

ATS affects people in a wide variety of ways. People with ATS have the potential for aneurysm formation. Aneurysms are concerning because they can rupture, causing internal bleeding and dangerous clotting. People with ATS often develop cardiovascular complications related to their tortuosity, which often need surgery to be corrected. Some other common symptoms of ATS include distinctive facial features such as a long face or downward-slanting eyes, hernias, and loose joints and skin.

How many people have ATS?

There have only been about 100 cases of ATS reported in medical literature, meaning there is still a lot that is unknown about ATS. Recently, researchers have provided encouraging information that the overall progress of ATS is less severe than previously reported, and the ATS patients in recent studies were significantly older than in previous ones.For more information about Arterial Tortuosity Syndrome (ATS), visit

Are there other people with ATS I can talk to?

If you are someone living with ATS or have a loved one who has ATS, you can find support via the ATS community on Facebook. Join the online community to share insights and experiences.There are also resources and support groups for people who have rare diseases. People with rare diseases often have similar experiences within the healthcare system. Sometimes it can take a long time for them to get the right diagnosis, and often they aren’t able to meet other people with the same conditions. Rare disease communities give people an opportunity to support each other and to share what they are going through, even if they don’t have the same rare conditions.Here are a few organizations that can provide information and support for people with ATS:)

  • The National Organization of Rare Diseases (NORD): An organization that provides important information, advocacy, and other services to improve the lives of all people affected by rare diseases.
  • The Global Genes Project: One of the leading rare disease patient advocacy organizations in the world. Their mission is to eliminate the challenges of rare diseases by building awareness and providing connections and resources to patients and families.
  • The European Organisation for Rare Diseases (EURODIS): An alliance of organizations and individuals representing 634 rare disease patient organizations in 58 countries. This organization offers translation services and patient materials about living with a rare disease.
  • National Institutes of Health Office of Rare Diseases Research: The goals of this organization are to identify, coordinate, and support research to respond to the needs of patients who have rare diseases.
  • Orphanet: A website with information on rare diseases and orphan drugs. Orphanet also provides a list of expert centers for different diseases, including ATS.
  • Ben’s Friends: A website that offers the ability to create a patient community for any rare disease.
  • PatientsLikeMe: A website where individuals can connect with other people facing similar diseases by comparing treatments and symptoms, sharing experiences, and giving support.