Arterial tortuosity syndrome I77.1

Arterial tortuosity syndrome, also known as tortuous artery syndrome, is a rare, autosomal recessive inherited connective tissue disease belonging to the cutis laxa family.

Prevalence <1:1000,000; < 80 cases have been described in the literature so far. So far 18 SLC2A10 mutations have been found in 34 families. M:w=1:1

This is caused by mutations in the SLC2A10 gene (20q13.12), which codes for the glucose transporter 10 (GLUT10, with facilitated diffusion) (Castori M et al. 2012).

The role of GLUT10 in the pathogenesis of ATS is not yet known, but loss of function mutations in the SLC2A10 gene probably influence the biosynthesis of proteoglycans, ultimately resulting in the loss of the normal structure of the connective tissue extracellular matrix.

Newborn age

Clinically impressive with tortuous and elongated large and medium-sized arteries that tend to form aneurysms and dissections. Stenoses of the pulmonary arteries are also found.

The clinical symptoms depend on the arteries affected and therefore vary. They begin in infancy or early childhood.

The main clinical symptoms are right ventricular hypertension, acute respiratory symptoms, ventricular hypertrophy and heart failure. Patients are prone to aneurysms, dissections and ischemic events.

Extravascular symptoms such as:

• signs of cutis laxa with soft, velvety, stretchy skin,
• slightly dysmorphic facial features i.e. elongated
• Face, hypertelorism, cleft palate and/or bifid uvula as well as micro- or retrognathia, abdominal hernias, joint hypermobility, congenital contractures, myopia, keratoconus, keratoglobus (Hardin JS et al. 2018) and generalized hypotension.