Intrahepatic portosystemic shunts, from prenatal diagnosis to postnatal outcome: a retrospective study.

OBJECTIVE: Congenital intrahepatic portosystemic shunts (IHPSS) are rare vascular malformations resulting in blood bypassing the liver to the systemic circulation. Previous studies included symptomatic patients diagnosed postnatally, but the outcome of IHPSS diagnosed prenatally is rarely reported. We present a cohort of children prenatally diagnosed with IHPSS and report their natural course and outcome. METHODS AND DESIGN: This was a retrospective study of all fetal cases diagnosed by ultrasound with IHPSS between 2006 and 2019 at a single tertiary centre which were prospectively followed up at the paediatric gastroenterology unit. The postnatal outcome was compared between patients with a single versus multiple intrahepatic shunts. RESULTS: Twenty-six patients (70.3% boys) were included in the study, of them, eight (30.8%) patients had multiple intrahepatic shunts. The median gestational age at diagnosis was 29.5 weeks. Growth restriction affected 77% of the cohort. Postnatally, spontaneous shunt closure occurred in 96% of patients at a median age of 7.5 months (IQR 2.2-20 months). Failure to thrive (FTT) and mild developmental delay were observed in eight (30.8%) and seven (26.9%) patients, respectively. FTT was significantly more prevalent in patients with multiple shunts compared with patients with a single shunt (62.5% vs 16.7%, p=0.02); however, the rate of shunt closure and age at time of closure were similar between these groups. All patients survived with limited to no sequelae. CONCLUSIONS: IHPSS usually close spontaneously by 2 years of age. Children with prenatally detected IHPSS may develop FTT and mild developmental delay. Close surveillance at a paediatric gastroenterology unit may be beneficial.

Familial Occurrence of Atrioventricular Nodal Reentrant Tachycardia.

BACKGROUND: Atrioventricular nodal reentrant tachycardia (AVNRT) is considered a sporadic disease occurring in ≈22.5 cases per 10 000 in the general population. We define the prevalence and characteristics of familial AVNRT among patients who underwent radiofrequency ablation. METHODS AND RESULTS: Ablation reports of all patients with familial AVNRT (at least 2 first-degree family members) who underwent radiofrequency ablation in our institution and in another hospital were reviewed. There were 1587 patients from our institution, of whom 20 had ≥1 first-degree relatives with AVNRT. This indicates a familial AVNRT prevalence of 127 cases per 10 000 (95% confidence interval, 82-196/10 000). First-degree relatives of patients with AVNRT presented a hazard ratio of at least 3.6 for exhibiting AVNRT compared with the general population. After inclusion of 4 families with familial AVNRT who underwent ablation at another hospital our population study comprised a total of 24 families (50 patients) with AVNRT. Patients at ablation were younger in the familial AVNRT group when compared with the sporadic AVNRT group (44.2±19 versus 54.8±18 years old, P=0.0001). The male/female ratio was similar, with female predominance. The supraventricular tachycardia mechanism was typical slow/fast reentry in most cases in both groups. The most common familial relationship in our 24 families included a parent and a child in 67% of cases and less often 2 siblings (29%). CONCLUSIONS: Familial AVNRT prevalence is higher than previously believed suggesting that this arrhythmia may have a genetic component. Autosomal dominance with incomplete penetrance is the most likely mode of inheritance.