TARP syndrome
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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