Is Arterial Tortuosity Syndrome contagious?

Arterial Tortuosity Syndrome is not contagious and cannot be spread through physical contact, air, or any other means of transmission. It is a rare genetic connective tissue disorder caused by mutations in a specific gene, meaning it is present from birth and is not an infectious disease.

What causes Arterial Tortuosity Syndrome?

Arterial Tortuosity Syndrome is caused by pathogenic variants in the SLC2A10 gene. This gene provides instructions for producing a protein called GLUT10, which plays a critical role in the function of connective tissues. When this gene does not function correctly, it leads to the characteristic elongation and twisting (tortuosity) of the medium- and large-sized arteries throughout the body. Because it is a genetic condition, it is physically impossible to "catch" Arterial Tortuosity Syndrome from another person.

Is Arterial Tortuosity Syndrome hereditary?

Yes, Arterial Tortuosity Syndrome follows an autosomal recessive inheritance pattern. This means that an affected individual must inherit one mutated copy of the SLC2A10 gene from each parent. Parents of a child with the condition are typically asymptomatic carriers, each carrying one mutated gene and one healthy gene. There is no risk of contagion when interacting with a person living with Arterial Tortuosity Syndrome, as the condition is deeply rooted in the individual's unique genetic code.

Why is there confusion about contagion?

Rare diseases like Arterial Tortuosity Syndrome are often misunderstood by the general public, leading to unnecessary stigma. Because the condition involves systemic health issues, some may mistakenly associate it with infectious illnesses. It is important to clarify that:

• There is zero risk of transmission through touch, saliva, or sharing environments.


• Living with or caring for someone with Arterial Tortuosity Syndrome carries no health risk to the caregiver.


• The condition is not triggered by environmental pathogens, viruses, or bacteria.

Next steps

• Consult with a clinical geneticist to understand the specific inheritance risks for your family.


• Connect with the 7 members of the Arterial Tortuosity Syndrome community at DiseaseMaps.org to share experiences and combat isolation.


• Speak with a vascular specialist or cardiologist to discuss long-term management of arterial health.

Medical disclaimer: This information is for educational purposes only and should not replace professional medical advice, diagnosis, or treatment.

References

• NIH Genetic and Rare Diseases Information Center (GARD): Arterial Tortuosity Syndrome


• Orphanet: Arterial Tortuosity Syndrome (ORPHA:93928)


• OMIM (Online Mendelian Inheritance in Man): #208050


• National Library of Medicine: SLC2A10 gene and connective tissue disorders