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Arterial tortuosity syndrome
ATS is a rare inherited condition impacting the body's connective tissue, leading to distinct abnormalities in arteries. It can affect children and adults, potentially causing cardiovascular, skin, and joint problems.
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Overview
Arterial tortuosity syndrome (ATS) is a very rare inherited disorder characterised by widespread abnormalities in connective tissue throughout the body. A key feature of ATS is the excessive twisting and elongation (tortuosity) of arteries, which are the blood vessels carrying oxygenated blood from the heart to the rest of the body [PMID:24163351]. This arterial tortuosity can be observed in various parts of the body, including the large arteries near the heart and in other regions such as the brain and limbs. These vascular anomalies are often detected during childhood or adolescence, although the severity can vary significantly among affected individuals.
Beyond arterial changes, ATS can involve other body systems due to the widespread nature of connective tissue. Connective tissue provides structure and support to many organs, including the skin, joints, and internal organs. As a result, individuals with ATS may also experience a range of other symptoms affecting these areas, which can influence their overall health and quality of life. Recognition of this condition is important for appropriate medical management.
Symptoms & clinical features
The symptoms of ATS can vary widely among individuals, even within the same family. Cardiovascular issues are prominent, stemming from the characteristic arterial tortuosity. This can lead to complications such as narrowing (stenosis) or widening (aneurysms) of blood vessels, which may impact blood flow and potentially lead to serious health problems. Some individuals may experience high blood pressure, and in more severe cases, dissection (a tear in the artery wall) or rupture of affected vessels can occur [PMID:24163351].
Beyond vascular problems, ATS often affects other connective tissues. Skin findings can include hyperelasticity (stretchy skin), an unusually soft and velvety texture, and easy bruising. Joint hypermobility, meaning joints can move beyond their normal range of motion, is also a common feature. Other signs may include skeletal abnormalities, such as pectus excavatum (sunken chest) or scoliosis (curvature of the spine). Eye abnormalities, such as corneal thinning, have also been reported in some cases [PMID:24163351].
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Affected organs
ATS primarily affects the arterial system, particularly the large and medium-sized arteries throughout the body. This includes blood vessels in the chest (like the aorta and pulmonary arteries), abdomen, brain, and limbs. The abnormal twisting and elongation of these arteries are central to the condition's pathology.
Additionally, due to the systemic nature of connective tissue, other organs and systems can be impacted. The skin, joints, skeletal system, and eyes are frequently involved. Connective tissue is crucial for structural support in these areas, so its dysfunction in ATS can lead to the observed signs such as stretchy skin, joint looseness, and skeletal deformities. Some studies indicate that pulmonary complications, such as emphysema, can also develop [PMID:15617260].
Risks & severity
The severity of ATS can range from mild, with primarily cosmetic or minor skeletal features, to severe, involving life-threatening cardiovascular complications. Risks include arterial narrowing, aneurysms, and vessel dissections or ruptures, which can be particularly dangerous if they affect major arteries such as the aorta. The age of onset for symptoms can vary, with some features present from birth and others developing or becoming more prominent during childhood or adolescence. Serious cardiovascular events, while not universal, represent a significant risk for some individuals with ATS.
Given the rarity of ATS, exact prevalence figures are not well established. However, studies indicate that individuals with pathogenic variants in the associated gene may experience varying degrees of the condition's features. Regular surveillance is generally recommended to monitor for potential complications, especially those related to the cardiovascular system, given the potential for progression or the development of new symptoms over time. Certain lifestyle factors might be discussed with healthcare professionals to support overall cardiovascular health.
Genetic causes
Arterial tortuosity syndrome is caused by pathogenic variants in the SLC2A10 gene [PMID:14705007]. This gene provides instructions for making a protein called GLUT10, which is a glucose transporter. Although its precise role in all body tissues is still being researched, GLUT10 is thought to be important for the proper function and maintenance of connective tissue, particularly in the arterial walls.
When there is a pathogenic variant in SLC2A10, the GLUT10 protein may not function correctly or may not be produced in sufficient quantities. This disruption is believed to lead to abnormalities in the connective tissue, resulting in the characteristic arterial tortuosity and other features of ATS. Research suggests that the impaired function of GLUT10 may affect the integrity and elasticity of blood vessel walls, contributing to their abnormal structure and proneness to damage [PMID:15617260].
- SLC2A10 solute carrier family 2 member 10The SLC2A10 gene provides instructions for making the GLUT10 protein, which plays a role in regulating cellular processes critical for blood vessel and connective tissue development.
Inheritance pattern
Arterial tortuosity syndrome is inherited in an autosomal recessive pattern. This means that an individual must inherit two copies of the altered SLC2A10 gene - one from each parent - to develop the condition. If a person inherits only one altered copy of the gene, they are considered a 'carrier'. Carriers typically do not show symptoms of ATS but can pass the altered gene copy on to their children.
For parents who are both carriers of an SLC2A10 pathogenic variant, there is a 25% chance with each pregnancy that their child will inherit two altered copies and develop ATS. There is a 50% chance the child will be a carrier, and a 25% chance the child will inherit two normal copies of the gene. Genetic counselling is available to help families understand these inheritance patterns and their implications.
When both parents are carriers, each child has a 25% chance of being affected, 50% of being a carrier, and 25% of being unaffected.
Diagnosis & testing
Diagnosing Arterial Tortuosity Syndrome typically involves a combination of clinical evaluation and genetic testing. Clinicians consider characteristic symptoms such as widespread arterial tortuosity observed through imaging studies (e.g., echocardiogram, CT angiogram, or MRI), along with other features like skin hyperelasticity, joint hypermobility, or skeletal abnormalities. A cardiologist, especially one specialising in inherited cardiovascular conditions, often leads the initial clinical assessment. Paediatricians may also identify early signs in children.
Confirmation of ATS is usually made through genetic testing, specifically looking for pathogenic variants in the SLC2A10 gene [PMID:14705007]. In the UK, genetic testing for rare and inherited diseases, including ATS, falls under the NHS Genomic Medicine Service (GMS). Referral for genetic testing is typically made by a specialist clinician, such as a geneticist or cardiologist, particularly if there is a strong suspicion of ATS or a family history. Relevant NHS R-codes would be used for ordering specific genomic tests.
Management & lifestyle
Due to the rarity and varied presentation of ATS, management is typically multidisciplinary and tailored to the individual's specific symptoms. There is no cure for ATS, so care focuses on symptom management, monitoring for complications, and preventing severe outcomes. Regular cardiovascular surveillance using imaging techniques is crucial to detect early signs of arterial changes, such as narrowing, widening (aneurysms), or dissection. This surveillance helps inform appropriate medical or surgical interventions if needed.
Other aspects of management may include ophthalmology referrals for eye issues, orthopaedic care for skeletal or joint problems, and physiotherapy for joint hypermobility to strengthen supporting muscles. Blood pressure management is also important. Individuals and families affected by ATS can benefit from genetic counselling to understand the condition, inheritance patterns, and reproductive options. Ongoing research aims to better understand the disease mechanisms and develop more targeted therapies. Patients accessing care through the NHS Genomic Medicine Service would follow established pathways for rare conditions, involving specialist centres and expert panels.
UK care pathway
In the UK, individuals suspected of having Arterial Tortuosity Syndrome would typically enter the NHS Genomic Medicine Service (GMS) pathway. This usually begins with a referral from a specialist clinician, such as a cardiologist or clinical geneticist, to a regional Genomic Medicine Centre. Genetic testing, which might involve a specific R-code provided by the GMS, would be performed to identify pathogenic variants in the SLC2A10 gene.
Once a diagnosis is confirmed, care is delivered by a multidisciplinary team. Clinical genetics services provide ongoing support, including access to genetic counsellors who can help families understand the condition, inheritance risks, and implications for relatives. Management plans are coordinated to address the specific needs of each patient, aligning with best practice guidelines for rare and complex conditions.
Frequently asked questions
Is Arterial Tortuosity Syndrome a type of Ehlers-Danlos syndrome?
While ATS shares some features with Ehlers-Danlos syndromes (EDS), such as stretchy skin and joint hypermobility, it is a distinct condition caused by different genetic changes. ATS is specifically linked to the SLC2A10 gene, whereas EDS types are caused by variants in other genes. It's important to get an accurate diagnosis to ensure appropriate management.
How serious is Arterial Tortuosity Syndrome?
The severity of ATS can vary greatly. Some individuals may have mild symptoms, while others can experience serious complications, especially relating to their arteries. These can include narrowing, widening, or tearing of blood vessels. Regular medical monitoring is important to manage potential risks and maintain health.
Can Arterial Tortuosity Syndrome be passed on to children?
Yes, ATS is inherited in an autosomal recessive pattern. This means an individual needs to inherit a faulty gene copy from each parent to develop the condition. If both parents are carriers, there is a 25% chance with each pregnancy that their child will have ATS. Genetic counselling can provide detailed information about inheritance risks.
Is there a cure for Arterial Tortuosity Syndrome?
Currently, there is no cure for ATS. Management focuses on addressing the symptoms, preventing complications, and regular monitoring, especially of the cardiovascular system. Treatment plans are individualised and may involve a team of specialists to support overall health and well-being.
What kind of doctors treat Arterial Tortuosity Syndrome?
Management of ATS typically involves a multidisciplinary team of specialists. This often includes cardiologists for vascular issues, clinical geneticists for genetic counselling and overall coordination, ophthalmologists for eye problems, and orthopaedic specialists or physiotherapists for skeletal and joint concerns. A comprehensive approach ensures all aspects of the condition are addressed.
References
- Adam MP, Bick S, Mirzaa GM. Arterial Tortuosity Syndrome. 1993. PMID: 25392904
- Colombi M, Dordoni C, Chiarelli N. Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders. American journal of medical genetics. Part C, Seminars in medical genetics. 2015. PMID: 25821090
- Nanayakkara DNP, Hartley R, Wijesinghe HE. Arterial tortuosity syndrome. BMJ case reports. 2025. PMID: 40759497
- Van Berkel B, Sneyers V. Arterial Tortuosity Syndrome. Radiology. 2024. PMID: 39254450
- Beyens A, Albuisson J, Boel A. Arterial tortuosity syndrome: 40 new families and literature review. Genetics in medicine : official journal of the American College of Medical Genetics. 2018. PMID: 29323665
- Cubero A, Ayala J, Hamzeh G. Severe Arterial Tortuosity. World journal for pediatric & congenital heart surgery. 2017. PMID: 27095117
- Franceschini P, Guala A, Licata D. Arterial tortuosity syndrome. American journal of medical genetics. 2000. PMID: 10748415
- Mehrabi E, Khan K, Malik SA. Arterial tortuosity syndrome. BMJ case reports. 2016. PMID: 27651409