多脾症候群

AIM: The aim of this study was to highlight the hypothesis that embryological development and morphological aspects necessitate a comprehensive analysis of all situses and a detailed description of each anomaly, rather than attempting to force the malformation into the rigid categories of heterotaxy syndrome (HS) - left or right isomerism. This hypothesis is supported by describing the anatomy of a complex patient with multiple laterality defects resulting in multiple cardiac and organ malformations. CASE PRESENTATION: The unique aspect of the presented patient's morphological diagnosis lies in the presence of a leftward heart loop with an unusual shape and direction, with the right ventricle (RV) positioned posterosuperior to the left ventricle (LV). This configuration suggests congenitally corrected transposition of the great arteries, although it deviates from the typical presentation. Additionally, there is an arrest in the development of other embryonic structures, including an atrioventricular septal defect (AVSD) with asymmetric ventricles, hypoplasia of the left-sided morphological RV, and malposition of the great arteries, with the aorta positioned anteriorly and to the right of the stenotic pulmonary artery. There is also another important inconsistency: the atrial situs is solitus within the context of HS, accompanied by left bronchial isomerism, polysplenia, interrupted inferior vena cava, and bilateral superior vena cavae. CONCLUSIONS: In our patient's case, the segmental analysis revealed a rare morphological cardiac anatomy. Understanding both normal and pathological embryological cardiac development, and correlating it with the current morphological anatomy, was crucial in ensuring the correct diagnosis and treatment for our patient.

BACKGROUND: Laterality defects are rare congenital malformations that encompass congenital heart defects (CHDs) together with abnormalities of visceral organ arrangement (situs inversus or situs ambiguous). These defects may be isolated or part of a syndromic presentation with multisystem involvement. While over 50 genes have been implicated in laterality disorders, across multiple modes of inheritance, many cases remain molecularly undiagnosed. We sought to elucidate the molecular basis of dextrocardia, CHDs and visceral heterotaxy in two unrelated individuals of Arab-Muslim descent. METHODS: Detailed clinical phenotyping and exome sequencing (ES) were performed for each of the probands, followed by familial segregation analysis. RESULTS: ES revealed a shared homozygous variant in the Dan Domain Family Member 5 (DAND5) gene (NM_152654.3): c.396_397dup, p.(Tyr133SerfsTer11). DAND5 encodes a member of the Cerberus-related DAN protein family, which is involved in the establishment of left body asymmetry. This frameshift variant introduces a premature stop codon within the final exon, which is predicted to escape nonsense-mediated decay (NMD), resulting in a truncated protein lacking the functional DAN domain. CONCLUSIONS: DAND5 has recently been suggested as a candidate gene in heterotaxy and CHDs. Our findings further support biallelic loss of function variants in DAND5 autosomal recessive laterality defects.

PURPOSE: Situs ambiguous with polypsleny or heterotaxy syndrome is a rare occurrence in vascular surgery. METHODS: We report, for the first time in the literature, the association of situs ambiguous with polyspleny with an infrarenal aortic aneurysm. CT-scan performed to evaluate the aortic aneurysm incidentally revealed the situs ambiguous. RESULTS: CT-scan was analysed to report all anomalies of situs ambiguous in this patient. CONCLUSION: This article provides an update on the various abdominal anomalies encountered in situs ambiguous. This syndrome is poorly known in vascular surgery, particularly with regard to its surgical implications.

BACKGROUND: Heterotaxy syndrome (HS) is a rare and complex congenital disorder characterized by abnormal development of the left-right axis and heterogeneous cardiovascular malformations. HS is associated with substantial morbidity and mortality, posing significant clinical challenges. Despite surgical advances, global research trends in HS remain poorly characterized. This study aimed to systematically analyze the global research landscape of HS from 2006 to 2025 using bibliometric methods, identify emerging themes, and highlight areas of clinical relevance. METHODS: Publications on HS published from 2006 to 2025 were retrieved from the Web of Science Core Collection (WoSCC). Bibliometric analyses were performed using CiteSpace and VOSviewer to assess publication trends, collaboration networks, journal distributions, and research hotspots. RESULTS: A total of 493 publications involving 2,548 authors from 184 journals were included. Overall, publication output increased over time, peaking in 2022. The United States was the leading contributor to research productivity. Harvard Medical School and Boston Children's Hospital were the leading institutions. Anderson RH was identified as the most prolific author, whereas Cardiology in the Young was the most productive journal in this field. Keyword and co-citation analyses revealed a transition from anatomical classification and staged surgical palliation toward genetic mechanisms, prognostic assessment, and long-term outcome evaluation. CONCLUSIONS: HS research remains in an evolving stage of development. This study outlines emerging research directions and thematic trends as the first bibliometric analysis in this field. These findings provide clinicians and researchers with a clearer understanding of the current research landscape and may serve as a reference for future investigations aimed at improving the management and outcomes of patients with HS.