Ventricular extrasystoles with syncopal episodes, perodactyly, and Robin sequence in three generations: A new inherited MCA syndrome?

Abstract

We observed the combination of the Robin sequence with perodactyly (hypoplasia and/or agenesis of the distal phalanx of the toes) and cardiac arrhythmia (ventricular extrasystoles occurring as bigemini or multifocal tachycardia with syncopal episodes) in 6 relatives in 3 generations. This familial association has not been reported before and probably represents a previously unrecognized heritable malformation syndrome.

A case of severe Pierre Robin sequence with failure to thrive and tachycardia resolved after redo-fundoplication and hiatoplasty

“…Resolution of bradycardia can be achieved by conservative [8] or surgical [2] treatment of GER. Tachycardia, which was present in our patient, has been rarely reported in GER and PRS [12]. Interestingly, in our patient tachycardia persisted in a period of conservative therapy and required anti-arrhythmic therapy.…”

Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2

“…Moreover, mutations in KCNJ2 cause cleft palate in mice. 19 To our knowledge, CD with periodic paralysis and cardiac arrhythmias has not been reported, but PRS occurring with cardiac arrhythmias has been described previously 20 and a higher prevalence of congenital cardiac anomalies has been found in patients with PRS (13.6%) compared with the general population with CL/P (6.7%). 21 We sequenced the coding region of KCNJ2 in the 10 patients with PRS, including the translocation patient, without detecting any mutations.…”

Robin sequences and complexes: Causal heterogeneity and pathogenetic/phenotypic variability

“…Cohen [1976Cohen [ , 1979Cohen [ , 1981Cohen [ , 1982Cohen [ , 1989Cohen [ , 1990Cohen [ , 1996Cohen [ , 1997aCohen [ , 1997b and Kreiborg and Cohen [1996]. Updated from Shprintzen [1988], Carey et al [1982], Chitayat et al [1991], RichieriCosta and Pereira [1992], Stoll et al [1992], Verloes et al [1990], Bruce and Winship [1993], Schimke et al [1993], Abruzzo and Erickson [1977], Sanderson andFraser [1983] Toriello andCarey [1988], Schrander-Stumpel et al [1991], and Froster-Iskenius et al [1988]. a Some cases represent infants of diabetic mothers.…”