Arterial Tortuosity Syndrome (ATS)
Extremely rare, especially unique.
ATS affects people’s connective tissue, causing twisting and elongation of the arteries. There is very little known about the disorder because it is so uncommon. Scroll down or use the links below to learn more about ATS.
What do you want to know about ATS?
- What is ATS?
- What causes ATS?
- What can a person with ATS expect?
- ATS DOs and DON’Ts
- What are the symptoms of ATS?
Are you a physician or healthcare professional interested in ATS?
Check out the research section for a clinical landscape of ATS.
What is arterial tortuosity syndrome (ATS)?
ATS is a rare disorder that affects connective tissue, which is tissue in the body that plays an important role in supporting and holding together organs, muscles, and bones. People with ATS have problems with their arteries, including elongation, tortuosity (twisting), and/or aneurysms, among other symptoms.ATS is a recessive disorder; it runs in families, but parents don’t have to have symptoms to have a child with ATS. Because of its rarity, not many people with ATS have been studied. Encouragingly, recent research has occurred in older patients, meaning that people with ATS can live longer than previously thought.Top
What causes ATS?
ATS is an inherited genetic disorder, but since it is a recessive gene (not dominant) it can appear in families that have previously had no members with symptoms. It is caused by a mutation in a gene called SLC2A10 that encodes (creates) a protein known as GLUT10. People with ATS have GLUT10 protein that does not work correctly, and this disrupts the body’s development of connective tissue and the circulatory system in 2 ways.
- Without working GLUT10, a very important protein called transforming growth factor beta (TGFβ) can’t work properly. TGFβ is known to play a crucial role in the development of the heart and veins during embryonic development. Abnormal TGFβ signaling has also been linked to other disorders that involve arterial issues, including Marfan syndrome and a recently identified genetic condition called Loeys-Dietz syndrome, highlighting the importance of that protein to healthy development of arteries.
- Scientists think that a lack of GLUT10 protein may prevent mitochondria, which are small organs within cells that make energy, from working. When a cell can’t make enough energy, it can cause issues with connective tissue development.
More research is needed to figure out exactly how these issues, and possibly others, caused by the SLC2A10 gene mutation work together to create the symptoms of ATS.Top
What can a person with ATS expect?
ATS affects people in a wide variety of ways. Studies show that people with ATS have twisting (tortuosity) of the aorta and large arteries. This can increase their risk of aneurysm formation. An aneurysm is a blood-filled balloon that forms on the wall of a blood vessel, which can cause internal bleeding or blood clots. Another major concern is that cardiovascular interventions, such as surgery to correct problems associated with ATS, present unique challenges. People with ATS often need surgery to correct their cardiovascular issues. People with ATS may need to seek out specialized centers with doctors who are familiar with the best techniques for surgery in ATS-affected people.
The following hospitals have experience working with people with ATS:
- Johns Hopkins Children’s Center
- 1800 Orleans Street, Baltimore, MD 21287
- (410) 955 5000
- Boston Children’s Hospital
- 300 Longwood Avenue, Boston, MA 02115
- (617) 355 6000
- Arkansas Children’s Hospital
- 1 Children’s Way, Little Rock, AR 72202
- (501) 364 1100
- Alberta Children’s Hospital
- 2988 Shaganappi Trail NW, Calgary, Alberta, Canada T3B 6A8
- (403) 955 7211
- Saint Mary’s Hospital, Manchester
- Oxford Road, Manchester, M13 9WL, United Kingdom
- +44 161 276 1234
- The Charité – University Medicine Berlin
- Charitéplatz 1, 10117, Berlin, Germany
- +49 30 450-50
ATS DOs and DON’Ts
Managing treatment of ATS
In 2014, Dr Callewaert published important guidelines for treating people with ATS to help provide the best care possible.1 His list is below or you can download a printable version for your next healthcare provider visit here.
What you need to know before seeking treatment of ATS
For parents or caregivers
- try to find a medical center familiar with ATS or similar conditions
- try to coordinate between different doctors who specialize in different areas of the body for optimal treatment
- find a doctor willing to direct different doctors involved in managing this condition (pediatrician, generalist, medical geneticist)
- find a (children’s) cardiologist with experience in this or related conditions
- consult a dentist to avoid risk of orthodontic complications and make sure the mouth is developing normally
- find an eye doctor (ophthalmologist) who has experience in connective tissue disorders
- find an orthopedic surgeon and physiotherapist with experience in connective tissue disorders
- find a pneumologist (expert in the lungs) with experience in connective tissue disorders
- encourage children or adults with ATS to participate in swimming and cycling
- encourage children or adults with ATS to participate in contact sports, competitive sports, repeated isometric exercise (for example weight lifting and scuba diving)
- use agents that stimulate the cardiovascular system such as decongestants
- encourage excessive sun tanning
For women with ATS who are planning a pregnancy or are pregnant
- seek preconception counseling
- find a high-care prenatal and postnatal obstetric center with expertise in connective tissue conditions
- have regular cardiovascular follow-up during pregnancy and within 6 months after birth
- transition to an antihypertensive such as a beta blocker before conception or as soon as pregnancy is recognized
- take an angiotensin-converting enzyme inhibitor (ACE-I) or angiotensin II receptor 1 antagonists (ATIIR1) such as losartan, especially in the second and third trimesters
CAUTION: Antihypertensive efficacy has not been established in patients with ATS
- regular cardiovascular follow-up (echocardiography and MRA or CT scan with 3D reconstruction from head to pelvis) starting at birth or at the time of diagnosis
- consider surgical intervention for aneurysms and focal symptomatic stenosis
- when reducing hemodynamic stress on arterial walls with ACE-I, or ATIIR1 antagonists. Using these blood pressure–lowering medications in the presence of arterial stenosis (anatomic or functional due to severe tortuosity), and especially renal artery stenosis, may create risk of renal failure
- place stiches without traction and keep in place ~10 days as wound healing may be delayed following surgery
- use a supporting mesh in surgical repair of hernias to reduce recurrence risk
- perform surgeries that are medically not strictly indicated (eg, plastic surgery)
- lung function tests and imaging if emphysema or asthma is suspected
- conduct routine follow-up for any pulmonary manifestation such as emphysema and asthma, which is treated symptomatically
- rely on positive pressure ventilation longer than necessary as it may cause emphysematous changes to progress
- ask an orthopedist to consider bone densitometry for osteoporosis depending on patient and family history and assess with radiographs if conditions such as scoliosis are suspected
- evaluate whether surgical stabilization of the spine is necessary
- evaluate the need for physiotherapy/hydrotherapy in case of joint instability and joint aches
- consult with an ophthalmologist who has experience in connective tissue disorders to evaluate amblyopia, keratoconus, keratoglobus, and corneal thinning
- consult on bifid uvula and cleft palate which may cause risk of feeding difficulties
- consult on potential dental crowding secondary to palatal abnormalities
For medical inquiries, please contact:
- Prof Dr B. Callewaert, Associate Professor, Clinical Geneticist–Pediatrician
- Ghent University Hospital
- De Pintelaan 185
- B-9000 Ghent, Belgium
- +32-9-332 5026
Reference: 1. Callewaert B, De Paepe A, Coucke P. Arterial Tortuosity Syndrome v2014 Nov 13. In: Pagon RA, Adam MP, Ardinger HH, et al, eds. GeneReviews®. Seattle, WA: University of Washington, Seattle; 1993-2015
What are the symptoms of ATS?
ATS affects patients in very different ways, but the primary symptoms of ATS are tortuosity (twisting) of the veins and arteries. The table below is a summary of some commonly reported symptoms affecting people with ATS. Of course, not all people will have all or even most of these symptoms.Click on the letters on the figure below to learn more.
Distinctive facial structure
- Downward-slanting and/or smaller than normal eyes
- A beak-shaped nose
- Long face
- High-arched roof of the mouth
- Cleft palate (a condition where the upper lip does not connect
- Large, prominent ears
- Small lower jaw
- Misaligned “lazy” eyes
- Twisting and lengthening of major and middle-sized arteries
- Aneurysms (bulges) in major arteries
- Stenosis (narrowing) of arteries
- Ventricular hypertrophy, or the thickening of the muscle that forms the ventricles (chambers) of the heart
- High blood pressure
- Loosely hanging, saggy skin
- Soft, thin, or super-stretchy skin
- Ecchymosis, or frequent bruise-like patches of skin that are not caused by an accident or trauma
- A hernia occurs when tissue or part of an organ gets trapped in a gap between muscles. It most commonly occurs in the abdomen and the stomach.
- Loose joints
- Stiff joint
- Ongoing discoloration of hands and feet
- Bulging of the eyes into cone-like shapes
- Abnormally long or slender fingers
- Developmental disability
- Hip dislocation (coming out of their sockets)
- Weak muscles
- Deformed chest