Comorbidities in situs inversus totalis: A hospital‐based study

Abstract

Background and objective Few studies have assessed the comorbid diseases in situs inversus totalis (SIT) comprehensively. The aim of this study was to provide insight into the spectrum and prevalence of comorbidities in SIT. Methods Children ≤18 years of age with SIT were enrolled in this retrospective observational study. Situs status and comorbidities were independently confirmed by two physicians, based on review of radiologic, ultrasonic examination, operative records, and case notes. Results A total of 155 children (median age: 1.24 years; range: 1 day–17.8 years) confirmed to have SIT were recruited between January 2008 and December 2018. Associated conditions were diagnosed in 114 children (73.5%). Among them, 25 children (16.1%) had multiple anomalies affecting two or more organ systems. The most commonly associated conditions were congenital heart defects (n = 72, 46.5%) followed by primary ciliary dyskinesia (n = 19, 12.3%), renal disorders (n = 12, 7.7%), biliary atresia (n = 7, 4.5%), skeletal dysplasia (n = 8, 5.2%), and mental retardation (n = 4, 2.6%). Conclusion A substantial proportion of children with SIT have comorbidities affecting multiple systems, especially cardiovascular and respiratory abnormalities. Children with SIT warrant careful examination for the presence of congenital and acquired abnormalities.

Situs Inversus Totalis and Sickle Cell Anemia: Case Report and Review of Literature

“…The most associated condition were congenital heart defects. Despite that, in the group of 155 children, none had SCA similar to this report [16].…”

Atypical Brain Asymmetry in Human Situs Inversus: Gut Feeling or Real Evidence?

“…Because of its limited clinical repercussions, situs inversus totalis is believed to be underdiagnosed. Nevertheless, structural malformations, such as congenital heart disease, may occur more frequently in situs inversus than in situs solitus [20,21]. In rare cases (1/2,000,000), situs inversus is not complete, and the heart is in its usual position (levocardia), while the other organs are in reversed position.…”

“…Situs inversus, for example, sometimes occurs in cystic renal disease, Bardet-Biedl syndrome, and retinitis pigmentosa [24]. The best-known example of syndromal situs inversus, however, is when situs inversus arises as a symptom of primary ciliary dyskinesia (PCD), accounting for about 20 to 25% of its cases [19,21,26]. Primary ciliary dyskinesia is a causally heterogeneous group of autosomal recessive disorders characterized by a defect in the motility of small hair-like organelles (cilia) that protrude from the cell surface into extracellular space and perform various transport-related functions in the human body [27,28].…”

Neumonías de repetición en escolar con situs inversus totalis y sospecha de discinesia ciliar primaria

“…Además, la ecografía abdominal ayuda a localizar la posición de las vísceras abdominales y detectar hernia diafragmática, asplenia o poliesplenia, alteraciones renales (como agenesia renal o riñón en herradura) o de la vía biliar. 5,6 A nivel respiratorio puede ocurrir sinusitis, neumonías de repetición, o el desarrollo de bronquiectasias producidas por la ausencia de transporte mucociliar que provocará estasis de las secreciones al estar la estructura ciliar alterada dificultando su aclaramiento, ocasionando el síndrome de Kartagener, 7 como se sospechó en nuestro paciente. Las alteraciones del cilio, conocidas como DCP o síndrome del cilio inmóvil, están asociadas hasta en 50% de los casos con el SIT, y se postula que puede haber un vínculo que explique esta relación entre el cilio móvil y el eje de izquierda a derecha, que estaría causado por un flujo anormal generado por los monocilios móviles en el nodo embrionario, lo cual es necesario para establecer la lateralidad de estos defectos.…”