Arterial tortuosity syndrome

[MIM 208 050]

Prevalence: < 1.106. Autosomal recessive transmission of a mutation of the SLC2A10 gene (20q13.12) that codes the facilitator transporter of glucose 10 (GLUT 10). These mutations may lead to changes in the architecture of the extracellular matrix of connective tissue by disrupting the synthesis of proteoglycans. It presents as a connective tissue disease that causes tortuosity and elongation of the medium and large size arteries with a risk of formation of aneurysm and/or dissection, or pulmonary artery stenosis.


Clinical presentation:

-        depending on the affected arteries involved: right ventricular hypertrophy, cardiac failure, respiratory symptoms, ischemic stroke, aneurysms, pulmonary arterial hypertension

-        onset in infancy

-        frequent facial dysmorphism: long narrow face with droopy cheeks, hypertelorism, epicanthus, micrognathia, beak-shaped nose,  high-arched palate or cleft palate

-        hyperextensible skin, cutis laxa, hernias (inguinal, diaphragmatic),

-        myopia, keratoconus,

-        contractures


Severe prognosis: 12 % mortality before 5 years of age caused by cardiac or respiratory failure or heart attack.

Differential diagnosis: Marfan, Ehlers-Danlos type IV, Loeys-Dietz syndromes


Anesthetic implications: 

recent echocardiography; topography of the arterial dilations; echoguided central venous access; risk of difficult intubation; avoid hypotension, hypertension, hypoxemia, hypocapnia, and hypercapnia. Monitoring of the cerebral oxygenation. Ocular protection.


References : 

-        Ajayan N, Hrishi AP, Kumar A, Sethuraman M.
Anesthetic management of a patient with arterial tortuosity syndrome undergoing cerebral revascularization surgery : a case report.
A&A Practice 2022; 16e01593


Updated: July 2022