Arterial tortuosity syndrome

Signs and symptoms

Major manifestations affect the cardiovascular system.

• Tortuosity and elongation of major and medium sized arteries.
• Stenosis or narrowing of major and medium sized arteries.
• Aneurysms or dilations of major and medium sized arteries
• Aortic valve regurgitation
• Hypertension

Non-cardiac signs and symptoms demonstrated by this condition include:

• Arachnodactyly
• Autonomic dysfunction
• Blepharophimosis
• Congenital diaphragmatic hernia
• Keratoconus
• Mental dysfunction
• Telangiectasia (small clusters of enlarged blood vessels just under the skin).

Genetics

Arterial tortuosity syndrome exhibits autosomal recessive inheritance, and the responsible gene is located at chromosome 20q13.

Pathophysiology

The mechanism of this condition is apparently controlled by (or due to) the SLC2A10 gene. The molecular genetic pathogenesis finds that the SLC2A10 gene encodes the GLUT10 protein which is found in the nuclear membrane, or the endoplasmic reticulum, the latter of which GLUT10 transports DHA into. Clinically speaking, according to one review, the condition of tortuosity is seen more with the advance of age.

Diagnosis

The diagnosis of Arterial Tortuosity Syndrome is established in a person with (1) generalized arterial tortuosity and (2) positive molecular genetic testing that identifies a pathogenic mutation in the SLC2A10 gene. Generalized arterial tortuosity can be identified through the following:

• Physical examination
• Echocardiogram
• CT or MRI imaging and angiography

Treatment

Individuals with ATS benefit from a coordinated approach of multidisciplinary specialists in a medical center familiar with ATS. No evidence-based clinical practice guidelines for arterial tortuosity syndrome (ATS) have been published.

The treatment of arterial tortuosity syndrome entails possible surgery for aortic aneurysms, as well as regular clinical surveillance including regular follow-up echocardiograms.

The prognosis and lifespan of this condition are unclear. Early reports of mortality were high, but more recent data suggests about 12% mortality.

References

References

1. (1993-01-01). "GeneReviews". University of Washington, Seattle.
2. "Arterial tortuosity syndrome {{!}} Genetic and Rare Diseases Information Center (GARD) – an NCATS Program".
3. Reference, Genetics Home. "arterial tortuosity syndrome".
4. (1993). "Arterial Tortuosity Syndrome". University of Washington, Seattle.
5. RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Arterial tortuosity syndrome".
6. "SLC2A10 gene".
7. "OMIM Entry - # 208050 - ARTERIAL TORTUOSITY SYNDROME; ATS".
8. Morris, Shaine A.. (2017-03-23). "Arterial Tortuosity in Genetic Arteriopathies". Current Opinion in Cardiology.
9. "Arterial tortuosity syndrome - Conditions - GTR - NCBI".
10. (2004-12-01). "Three new families with arterial tortuosity syndrome". American Journal of Medical Genetics. Part A.
11. (2016). "Inborn Metabolic Diseases: Diagnosis and Treatment". Springer.