[MIM 311 900]

Acronym for Talipes equinovarus - Atrial septal defect - Robin sequence - Persistence of the left superior vena cava syndrome.

Prevalence: < 1.106. X-linked recessive transmission of a mutation of the RBM10 gene (Xp11.3)

Disorder of embryogenesis, resulting in the association of:

-         a Pierre Robin sequence (see this term): micrognathia, glossoptosis, cleft palate,

-        an ASD

-        the persistence of the left superior vena cava (see this term)

-        an equinovarus clubfoot

Some patients present also with: facial dysmorphism (hypertelorism, ear anomalies), syndactyly, polydactyly or cerebral anomalies (cerebellar hypoplasia). This syndrome is often lethal, especially among young boys: death in utero or during the first months of life.

Anesthetic implications:

Difficult mask ventilation and/or intubation; management of an ASD (left-right shunt)

References :

-        Niceta M, Barresi S, Pantaleoni F, Capolino R, Dentici ML, Ciolfi A, Pizzi, S, Bartuli A, Dallapiccola B, Tartaglia M, Digilio MC. 
TARP syndrome: long-term survival, anatomic patterns of congenital heart defects, differential diagnosis and pathogenetic considerations
Europ J Med Genet 2019 ; 62: 103534

Updated: September 2022