Efficacy and safety of cardioversion with continuous landiolol infusion for atrial tachyarrhythmia in an inflammatory state caused by volvulus in a child with TARP syndrome and postoperative tetralogy of Fallot

Abstract

A 2‐year‐old boy was diagnosed with TARP syndrome and underwent surgery for tetralogy of Fallot. He developed fever and had an acute abdomen. After 12 hours, atrial tachyarrhythmia (300 beats/min [bpm]) occurred. After nine administration of adenosine and two cardioversions, it relapsed promptly. Landiolol (10 μg/kg/min) was administered until the heart rate decreased to 270 bpm, and cardioversion was performed until sinus rhythm was normal. Exploratory laparotomy revealed small bowel volvulus. Systemic inflammation causing an acute abdomen may be associated with atrial tachyarrhythmia in postoperative tetralogy of Fallot. We speculated that landiolol lowered the defibrillation threshold of the atrium.

Phenotypic spectrum of the RBM10‐mediated intellectual disability and congenital malformation syndrome beyond classic TARP syndrome features

“…Early patient reports involving loss of function RBM10 variants noted death in infancy; however in recent reports, including our own, patients survive for several years suggesting the co‐existence of a milder RBM10 phenotype 4‐6,8,10,12 . Interestingly, we find no significantly lower number of organ systems affected in patients that survive early childhood, though we should be aware that less clinical details are available from the older reports.…”

“…We report two novel cases with loss of function RBM10 variants that further demonstrate the wide phenotypic spectrum of RBM10 pathogenic variants 1‐12 . Reviewing all 25 reported cases with RBM10 loss of function variants, we suggest for the first time recurrent clinical features important for diagnosis and provide possible evidence for a genotype–phenotype correlation for RBM10 variants.…”

“…RBM10 is predominantly involved in RNA regulation of hundreds of genes, through alternative splicing, transcription regulation, and histone modification 5,13 . So far, 13 families encompassing 24 patients with RBM10 pathogenic variants have been described in literature 1‐12 . Due to improvement of genetic techniques, identification of genetic syndromes does not remain limited to hallmark phenotypic features allowing to diagnose patients more rapidly with an atypical presentation.…”

“…Pathogenic RBM10 loss of function variants cause an X‐linked disorder that is described as TARP syndrome (Talipes equinovarus, Atrial septal defect, Robin sequence, and Persistent left superior vena cava; OMIM 311900). The causal gene defect was described in 2010, where pathogenic variants were shown to be either de novo, inherited from a heterozygous female carrier or due to maternal mosaicism, with so far no known effect in carrier females 1‐12 . RBM10 is predominantly involved in RNA regulation of hundreds of genes, through alternative splicing, transcription regulation, and histone modification 5,13 .…”

Vitelline vascular remnant causing intestinal obstruction in a patient with TARP syndrome

“…TARP syndrome was first described by Gorlin et al (1970), who reported a cohort of patients with the cardinal features that resulted in the name of the condition. Since then, additional patients have been described, with approximately 28 cases now reported in the literature (Daicheng et al, 2022; Gorlin et al, 1970; Gripp et al, 2011; Hojland et al, 2018; Imagawa et al, 2020; Johnston et al, 2010; Johnston et al, 2014; Kaeppler et al, 2018; Kumps et al, 2021; Kurpinski et al, 2003; Miyamoto et al, 2018; Niceta et al, 2019; Owczarek‐Lipska et al, 2022; Powis et al, 2017; Wang et al, 2013). Major features include severe developmental delay, brain malformations, dysmorphic facial features, pulmonary disease, and failure to thrive.…”