Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence

Clinical Features

Stoll et al. (1992) described a family in which 6 individuals in 3 generations had cardiac arrhythmia (ventricular extrasystoles occurring as bigeminy or multifocal tachycardia with syncopal episodes), perodactyly (hypoplasia and/or agenesis of the distal phalanges of the toes), and Robin sequence. There was 1 instance of male-to-male transmission. The affected individuals showed antimongoloid slant of the palpebral fissures. Most of the affected individuals had a posteriorly placed tongue and a submucous cleft palate. Toriello (1992) referred to this as heart-hand syndrome V.

Mercer et al. (2008) reported a 7-year-old girl who presented with a syncopal episode while swimming and upon examination was found to have a similar facial phenotype, Pierre-Robin sequence, tapering fingers, and multiple ventricular extrasystoles. Mercer et al. (2008) noted similarities to the patients described by Stoll et al. (1992) and stated that these patients seemed to have the same or a related condition. The other family reported by Mercer et al. (2008) was found to have a heterozygous truncating mutation in the TRIO gene (601893.0004), consistent with MEBAS (617061).