Short answer · Medically reviewed summary · Last updated: 2026-05-08
Arterial Tortuosity Syndrome does not have a unique, dedicated code in the ICD-10 or ICD-9 systems; it is typically classified under broader categories for connective tissue disorders. Clinicians generally use ICD-10 code Q87.89 (Other specified congenital malformation syndromes, not elsewhere classified) or I77.89 (Other specified disorders of arteries and arterioles) to document the condition. What is the clinical significance of Arterial Tortuosity Syndrome? Arterial Tortuosity Syndrome is a rare autosomal recessive connective tissue disorder characterized by the elongation and tortuosity (twisting) of the major arteries.
1 people with Arterial Tortuosity Syndrome have shared their first-person experience on this question at DiseaseMaps.
ICD10 code of Arterial Tortuosity Syndrome and ICD9 code
ICD-10 and ICD-9 codes for Arterial Tortuosity Syndrome, with classification details for clinicians, coders and patients.
Arterial Tortuosity Syndrome does not have a unique, dedicated code in the ICD-10 or ICD-9 systems; it is typically classified under broader categories for connective tissue disorders. Clinicians generally use ICD-10 code Q87.89 (Other specified congenital malformation syndromes, not elsewhere classified) or I77.89 (Other specified disorders of arteries and arterioles) to document the condition.
What is the clinical significance of Arterial Tortuosity Syndrome?
Arterial Tortuosity Syndrome is a rare autosomal recessive connective tissue disorder characterized by the elongation and tortuosity (twisting) of the major arteries. Because Arterial Tortuosity Syndrome affects the structural integrity of blood vessels, patients are at risk for life-threatening complications such as aneurysms, dissections, and stenosis. Early identification is crucial for managing the cardiovascular risks associated with Arterial Tortuosity Syndrome.
How is Arterial Tortuosity Syndrome diagnosed?
Diagnosis of Arterial Tortuosity Syndrome is primarily confirmed through a combination of clinical imaging and molecular genetic testing. Physicians typically look for the following diagnostic indicators:
- Elongation and tortuosity of the aorta and pulmonary arteries identified via echocardiography or CT angiography.
- Characteristic craniofacial features, such as a high-arched palate, micrognathia, and elongated face.
- Biallelic pathogenic variants in the SLC2A10 gene, which encodes the glucose transporter GLUT10.
- Dermatological findings, including soft, hyperextensible skin and easy bruising.
Is Arterial Tortuosity Syndrome hereditary?
Yes, Arterial Tortuosity Syndrome is inherited in an autosomal recessive pattern. This means that an individual must inherit two copies of the mutated SLC2A10 gene—one from each parent—to manifest the disease. Genetic counseling is highly recommended for families affected by Arterial Tortuosity Syndrome to understand recurrence risks.
Next steps
- Consult with a cardiovascular geneticist or a vascular specialist to establish a long-term imaging surveillance plan.
- Connect with the 7 members of the DiseaseMaps.org community who share experiences with Arterial Tortuosity Syndrome.
- Request a referral for specialized genetic testing to confirm the SLC2A10 mutation.
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:93922).
- Online Mendelian Inheritance in Man (OMIM): #208050, Arterial Tortuosity Syndrome.
Posted Mar 10, 2018 by Andrea Taylor 2500
