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Two cases of ultrasound diagnosis of Holt-Oram syndrome are described. Both were characterized by significant right atrial enlargement that was not due to concurrent tricuspid regurgitation or other cardiac anomalies. In both cases the associated skeletal anomaly was subtle and barely visible using ultrasound. Interestingly, despite the fact that Holt-Oram syndrome is also called atriodigital dysplasia, unexplained right atrial enlargement has not been described in this context in the fetus before. When such a finding is detected, we believe a thorough search for upper limb abnormalities should be carried out and genetic testing for Holt-Oram syndrome should be discussed with the parents.

Anatomical considerations and risks related to x-ray exposure make atrioventricular nodal reentrant tachycardia (AVNRT) ablation in pediatric patients a concerning procedure. We aimed to evaluate the feasibility, safety, and efficacy of performing fluoroless slow-pathway cryoablation guided by the electroanatomic (EA) mapping in children and adolescents.Twenty-one consecutive patients (mean age 13.5 ± 2.4 years) symptomatic for AVNRT were prospectively enrolled to right atrium EA mapping and electrophysiological study prior to cryoablation. Cryoablation was guided by slow-pathway potential and performed using a 4-mm-tip catheter.Sustained slow-fast AVNRT was inducible in all the patients with a dual AV nodal physiology in 95%. Acute success was achieved in 100% of the patients with a median of two cryo-applications. Fluoroless ablation was feasible in 19 patients, while in two subjects 50 seconds and 45 seconds of x-ray were needed due to difficult progression of the catheters along the venous system. After a mean follow-up of 25 months, AVNRT recurred in five patients. All the recurrences were successfully treated with a second procedure. In three patients, a fluoroless cryoablation with a 6-mm-tip catheter was successfully performed, while in the remaining two patients, a single pulse of 60 seconds of radiofrequency energy was applied under fluoroscopic monitoring. No complications occurred.Combination of EA mapping systems and cryoablation may allow to perform fluoroless slow-pathway ablation for AVNRT in children and adolescents in the majority of patients. Fluoroless slow-pathway cryoablation showed a high efficacy and safety comparable to conventional fluoroscopy guided procedures.

Background: Despite recent technical advances, interventional cardiac catheterization is still challenging in neonatal age and no specific data concerning early outcome are so far published in literature. Methods: Neonatal trans-catheter cardiac interventions performed in high-volume Italian referral centers were retrospectively analyzed. Primary outcomes were procedural major adverse events, in-hospital mortality and procedural failure. Secondary outcomes were minor adverse events and need for blood transfusion. Results: From January 2000 to December 2017, 1423 newborns (mean weight 3.0 ± 0.6 kg, range 1.0–5.8; median age 2.0 days) underwent interventional cardiac catheterization. Overall, global procedure adverse event rate and in-hospital mortality were 10.2% and 5.2%, respectively. At multi-variable analysis, primary composite outcome was significantly related to low-weight (

Objectives: The aims of this study were to review systematically literature on and describe the sonographic features and associated anomalies of total (TAPVC) and partial (PAPVC) anomalous pulmonary venous connection and scimitar syndrome (SS). Methods: A retrospective cohort study was carried out of cases of TAPVC, PAPVC and SS that underwent comprehensive ultrasound examination, seen over a 20-year period at two tertiary referral centers. Assessed variables included TAPVC subtype, gestational age at diagnosis, area behind the left atrium, ventricular disproportion, vertical vein, pulmonary venous obstruction, mode of diagnosis, association with cardiac and extracardiac conditions, and pregnancy and fetoneonatal outcomes. The outcome was considered favorable if the individual was alive and well (no functional impairment from surgery or cardiac or extracardiac conditions). Cases associated with right isomerism were excluded from the analysis, as TAPVC in these cases was only one of several major cardiac anomalies affecting sonographic signs. A systematic review was performed in order to obtain a synthesis of characteristics associated with TAPVC, PAPVC and SS. The literature search of PubMed and EMBASE (1970–2016) included reviews, case series and case reports. A meta-analysis was conducted only for TAPVC. Random-effects models were used to obtain pooled estimates of the frequencies of clinical characteristics and sonographic features. Results: For TAPVC, a total of 15 studies involving 71 patients (including 13 from the current cohort study) were included in the systematic review and meta-analysis. The pooled estimate for the association of TAPVC with congenital heart disease was 28.3% (95% CI, 18.1–41.3%) and with extracardiac anomalies it was 18.5% (95% CI, 10.5–30.6%). Of TAPVC cases, obstructed venous return was observed in 34.1% (95% CI, 22.7–47.7%), a favorable outcome in 43.8% (95% CI, 24.0–65.8%), ventricular disproportion in 59.2% (95% CI, 45.1–72.0%), increased area behind the left atrium in 58.1% (95% CI, 41.1–73.5%) and a vertical vein in 59.3% (95% CI, 41.1–75.3%). Diagnosis was established by using color or power Doppler in 84.9% (95% CI, 67.3–93.9%) of cases. For SS, there were only three studies describing eight cases, to which the current study added another five. Ventricular disproportion was present in three out of nine SS cases for which data were available, but for two of these, there was a concurrent heart anomaly. Color Doppler was used for all SS diagnoses, and four-dimensional echocardiography was useful in two out of six cases in which it was used. Outcome for SS cases was generally good. For PAPVC, there were only five studies describing five cases, to which the current study added another two. Major cardiac anomalies were associated in four out of seven of these cases, and extracardiac anomalies in three out of six cases for which data were available. Conclusions: TAPVC can be associated with other cardiac and extracardiac anomalies in a significant percentage of cases. Leading sonographic signs are ventricular disproportion, increased area behind the left atrium and the finding of a vertical vein. Color/power Doppler is the key mode for diagnosis of TAPVC. Obstructed venous return can be expected in roughly one-third of cases of TAPVC and outcome is favorable in less than half of cases. Data for SS and PAPVC are too few to synthesize. Copyright © 2017 ISUOG. Published by John Wiley & Sons Ltd.

Objective Coronary arterial abnormalities can be one of the few negative prognostic indicators in transposition of the great arteries (TGA), and their occurrence is related to the type of spatial relationship of the great arteries. The main objective of this study was to assess whether the use of the reconstructed en-face view with color Doppler imaging of the four cardiac valves can demonstrate the different types of spatial relationship of the arterial trunks in fetuses with TGA, in order to derive the risk of coronary abnormalities. A secondary end-point was the evaluation of the type of coronary arterial branching pattern. Methods Twenty-three fetuses with a confirmed diagnosis of TGA underwent four-dimensional (4D) echocardiography at 19–33 gestational weeks. The en-face view of the four cardiac valves and color Doppler with high persistence were employed to assess the spatial relationships of the great arteries. In all cases, confirmation of the vessels' arrangement and coronary arterial distribution was obtained at neonatal echocardiography and/or surgery. Results The spatial relationships of the great vessels was identified correctly in 20/23 (87%) cases. The aorta was found to be located anterior to and to the right of the pulmonary trunk in 13/23 (56.5%) cases and just anterior to the pulmonary artery in 6/23 (26.1%) cases; in the remaining four (17.4%) cases, the two vessels were side by side. With respect to the association between the spatial relationship of the great arteries and the occurrence of an unusual pattern of coronary arterial branching, five of the TGA fetuses had abnormal coronary arterial distribution. Conclusions Using 4D echocardiography with color Doppler, it is possible to define the spatial relationships of the great arteries in fetuses with TGA with a high degree of accuracy. This information can be used during counseling to predict the likelihood of abnormal coronary arterial distribution. Copyright © 2008 ISUOG. Published by John Wiley & Sons, Ltd.