Arterial tortuosity syndrome

Arterial tortuosity syndrome is a rare congenital connective tissue condition disorder characterized by elongation and generalized tortuosity of the major arteries including the aorta. It is associated with hyperextensible skin and hypermobility of joints, however symptoms vary depending on the person. Because ATS is so rare, not much is known about the disease.

Signs and symptoms

Among the signs and symptoms demonstrated, by this condition are the following:

• Arachnodactyly
• Congenital diaphragmatic hernia
• Mental dysfunction
• Keratoconus
• Aortic regurgitation
• Blepharophimosis

Genetics

Chr 20

Arterial tortuosity syndrome exhibits autosomal recessive inheritance, and the responsible gene is located at chromosome 20q13. The gene associated with arterial tortuosity syndrome is SLC2A10 and has no less than 23 mutations in those individuals found to have the aforementioned condition.

Pathophysiology

The mechanism of this condition is apparently controlled(or due to) the SLC2A10 gene. The molecular genetic pathogenesis finds that SLC2A10 encodes GLUT10(in nuclear membrane, or the endoplasmic reticulum, the later 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

In terms of the diagnosis of arterial tortuosity syndrome can be done via genetic testing, as well as the following listed below:

• CT
• MRI
• Echocardiogram
• Physical exam(for specific characteristics)

Treatment

The treatment of arterial tortuosity syndrome entails possible surgery for aortic aneurysms, as well as, follow ups which should consist of EGC. The prognosis of this condition has it at about 12% mortality

Further reading

Review

External links

Classification	ICD-10: Q87.82 OMIM: 208050 DiseasesDB: 35153 SNOMED CT: 458432002
External resources	Orphanet: 3342