Dataset Information

Discordant Post-natal Patterns in Fetuses With Heterotaxy Syndrome: A Retrospective Single-Centre Series on Outcome After Fetal Diagnosis

ABSTRACT:

Objective

Cardiac and extra-cardiac anomalies in 46 pre-natally diagnosed cases of heterotaxy were compared to post-natal anatomical patterns in order to reveal discordant findings. Second, the outcome of these fetuses was evaluated.

Methods

Fetuses with heterotaxy, diagnosed in a tertiary referral centre, were analysed retrospectively. Based on the foetal abdominal situs view, right atrial isomerism (RAI) and left atrial isomerism (LAI) were defined as foetal sub-types. Post-natally, discordant anatomical patterns for broncho-pulmonary branching, atrial appendage morphology, and splenic status were further clarified with CT scans. In summary, the spectrum of pre-natally and post-natally detected cardiac and extra-cardiac anomalies is systematically reviewed. Necessary surgical interventions and mid-long-term outcomes were compared between the two sub-types in surviving infants.

Results

A total of 46 fetuses with heterotaxy were included; LAI was diagnosed in 29 (63%) fetuses and RAI was diagnosed in 17 (37%) fetuses. Extra-cardiac anomalies were noted in 35% of fetuses. Seven out of the 29 fetuses (24%) with LAI had atrio-ventricular block (AVB) and four of these cases presented with hydrops. Twenty nine out of the 46 participating fetuses (63%) were live births, with 62% in the LAI group and 65% in the RAI group. Five fetuses were lost to follow-up. At the age of 1 year, the overall survival of live births [estimate (95% CI)] was 67% (48; 92%) in patients with LAI and 55% (32; 94%) in patients with RAI. At the age of 5 years, the estimates were 67% (48; 92%) in the LAI group and 46% (24–87%) in the RAI group. The median survival (first quartile; third quartile) was 11.1 (0.1; 14) years for patients with LAI and 1.3 (0.09; NA) years for patients with RAI. Of 17 children who had undergone cardiac surgery, five (29%) children achieved a bi-ventricular repair and 12 (70%) children achieved a uni-ventricular palliation. Three were primarily palliated, but converted to bi-ventricular thereafter. Foetal subtype definition of heterotaxy based on the abdominal situs and post-natal thoracic imaging studies showed a discordant pattern of broncho-pulmonary branching and atrial appendage anatomy in 40% of our live-born children.

Conclusion

Heterotaxy is a rare and complex condition with significant morbidity and mortality related to severe cardiac and extra-cardiac associations. Accurate pre-natal diagnosis can help identify the fetuses at risk and allow for timely intervention in a multi-disciplinary setting. Further studies are warranted to shed light on the exact sub-type definition in fetuses with heterotaxy and the presence of discordant post-natal patterns.

SUBMITTER: Seidl-Mlczoch E

PROVIDER: S-EPMC9329514 | biostudies-literature |

REPOSITORIES: biostudies-literature

ACCESS DATA

Similar Datasets

Project description:Background:In limited retrospective series, infliximab, adalimumab and vedolizumab have demonstrated efficacy in chronic antibiotic-refractory pouchitis. Here, we report single-centre data of all biological therapies in refractory pouchitis. Methods:We retrospectively assessed all records from patients with ulcerative colitis and ileal pouch -anal anastomosis who received infliximab, adalimumab or vedolizumab for pouchitis. Clinically relevant remission, defined as a modified Pouchitis Disease Activity Index?<5 and a reduction of modified Pouchitis Disease Activity Index ?2 points from baseline, was assessed at week 14. Results:Thirty-three unique patients were identified. Prior to colectomy, patients had been exposed to cyclosporine (n?=?14), infliximab (n?=?12), adalimumab (n?=?3), and/or vedolizumab (n?=?3). All developed chronic antibiotic-refractory pouchitis, for which they received infliximab (n?=?23), adalimumab (n?=?13) or vedolizumab (n?=?15). Clinically relevant remission was observed in 43.5% of patients in the infliximab group, and in 38.5% and 60.0% in the adalimumab and vedolizumab group, respectively. In the long-term, significantly more patients continued vedolizumab compared to anti-tumour necrosis factor (anti-TNF) therapy (hazard ratio 3.0, p?=?0.04). Adverse events (mainly infusion reactions) explained 40.7% of the patients discontinuing anti-TNF therapy, whereas discontinuation of vedolizumab was only related to insufficient efficacy. Four patients eventually required a permanent ileostomy. Conclusion:In this case series of chronic antibiotic-refractory pouchitis, biological therapy was effective in the majority of patients and only a minority eventually required a permanent ileostomy. The use of anti-TNF agents was hampered by a high rate of adverse events, partly related to immunogenicity as some patients had been exposed to anti-TNF prior to colectomy. Vedolizumab was also efficacious and may provide a safe alternative in these chronic antibiotic-refractory pouchitis patients.