A multi-disciplinary, comprehensive approach to management of children with heterotaxy
Abstract Heterotaxy (HTX) is a rare condition of abnormal thoraco-abdominal organ arrangement across the left–right axis of the body. The pathogenesis of HTX includes a derangement of the complex signaling at the left–right organizer early in embryogenesis involving motile and non-motile cilia. It c...
| Main Authors: | , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2022-09-01
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| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13023-022-02515-2 |
| _version_ | 1818064473632538624 |
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| author | Thomas G. Saba Gabrielle C. Geddes Stephanie M. Ware David N. Schidlow Pedro J. del Nido Nathan S. Rubalcava Samir K. Gadepalli Terri Stillwell Anne Griffiths Laura M. Bennett Murphy Andrew T. Barber Margaret W. Leigh Necia Sabin Adam J. Shapiro |
| author_facet | Thomas G. Saba Gabrielle C. Geddes Stephanie M. Ware David N. Schidlow Pedro J. del Nido Nathan S. Rubalcava Samir K. Gadepalli Terri Stillwell Anne Griffiths Laura M. Bennett Murphy Andrew T. Barber Margaret W. Leigh Necia Sabin Adam J. Shapiro |
| author_sort | Thomas G. Saba |
| collection | DOAJ |
| description | Abstract Heterotaxy (HTX) is a rare condition of abnormal thoraco-abdominal organ arrangement across the left–right axis of the body. The pathogenesis of HTX includes a derangement of the complex signaling at the left–right organizer early in embryogenesis involving motile and non-motile cilia. It can be inherited as a single-gene disorder, a phenotypic feature of a known genetic syndrome or without any clear genetic etiology. Most patients with HTX have complex cardiovascular malformations requiring surgical intervention. Surgical risks are relatively high due to several serious comorbidities often seen in patients with HTX. Asplenia or functional hyposplenism significantly increase the risk for sepsis and therefore require antimicrobial prophylaxis and immediate medical attention with fever. Intestinal rotation abnormalities are common among patients with HTX, although volvulus is rare and surgical correction carries substantial risk. While routine screening for intestinal malrotation is not recommended, providers and families should promptly address symptoms concerning for volvulus and biliary atresia, another serious morbidity more common among patients with HTX. Many patients with HTX have chronic lung disease and should be screened for primary ciliary dyskinesia, a condition of respiratory cilia impairment leading to bronchiectasis. Mental health and neurodevelopmental conditions need to be carefully considered among this population of patients living with a substantial medical burden. Optimal care of children with HTX requires a cohesive team of primary care providers and experienced subspecialists collaborating to provide compassionate, standardized and evidence-based care. In this statement, subspecialty experts experienced in HTX care and research collaborated to provide expert- and evidence-based suggestions addressing the numerous medical issues affecting children living with HTX. |
| first_indexed | 2024-12-10T14:36:34Z |
| format | Article |
| id | doaj.art-125085e92ac34c5c94ba5fe856bff840 |
| institution | Directory Open Access Journal |
| issn | 1750-1172 |
| language | English |
| last_indexed | 2024-12-10T14:36:34Z |
| publishDate | 2022-09-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj.art-125085e92ac34c5c94ba5fe856bff8402022-12-22T01:44:48ZengBMCOrphanet Journal of Rare Diseases1750-11722022-09-0117111710.1186/s13023-022-02515-2A multi-disciplinary, comprehensive approach to management of children with heterotaxyThomas G. Saba0Gabrielle C. Geddes1Stephanie M. Ware2David N. Schidlow3Pedro J. del Nido4Nathan S. Rubalcava5Samir K. Gadepalli6Terri Stillwell7Anne Griffiths8Laura M. Bennett Murphy9Andrew T. Barber10Margaret W. Leigh11Necia Sabin12Adam J. Shapiro13Department of Pediatrics, Pulmonary Division, University of Michigan Medical SchoolDepartment of Medical and Molecular Genetics, Indiana University School of MedicineDepartment of Medical and Molecular Genetics, Indiana University School of MedicineDepartment of Cardiology, Boston Children’s Hospital, Harvard Medical SchoolDepartment of Cardiac Surgery, Boston Children’s Hospital, Harvard Medical SchoolDepartment of Surgery, Section of Pediatric Surgery, University of Michigan Medical SchoolDepartment of Surgery, Section of Pediatric Surgery, University of Michigan Medical SchoolDepartment of Pediatrics, Infectious Disease Division, University of Michigan Medical SchoolDepartment of Pediatrics, Pulmonary/Critical Care Division, Children’s Minnesota and Children’s Respiratory and Critical Care SpecialistsDepartment of Pediatrics, Division of Pediatric Psychiatry and Behavioral Health, University of Utah, Primary Children’s HospitalDepartment of Pediatrics, Division of Pulmonology, University of North Carolina School of MedicineDepartment of Pediatrics, Division of Pulmonology, University of North Carolina School of MedicineHeterotaxy ConnectionDepartment of Pediatrics, McGill University Health Centre Research InstituteAbstract Heterotaxy (HTX) is a rare condition of abnormal thoraco-abdominal organ arrangement across the left–right axis of the body. The pathogenesis of HTX includes a derangement of the complex signaling at the left–right organizer early in embryogenesis involving motile and non-motile cilia. It can be inherited as a single-gene disorder, a phenotypic feature of a known genetic syndrome or without any clear genetic etiology. Most patients with HTX have complex cardiovascular malformations requiring surgical intervention. Surgical risks are relatively high due to several serious comorbidities often seen in patients with HTX. Asplenia or functional hyposplenism significantly increase the risk for sepsis and therefore require antimicrobial prophylaxis and immediate medical attention with fever. Intestinal rotation abnormalities are common among patients with HTX, although volvulus is rare and surgical correction carries substantial risk. While routine screening for intestinal malrotation is not recommended, providers and families should promptly address symptoms concerning for volvulus and biliary atresia, another serious morbidity more common among patients with HTX. Many patients with HTX have chronic lung disease and should be screened for primary ciliary dyskinesia, a condition of respiratory cilia impairment leading to bronchiectasis. Mental health and neurodevelopmental conditions need to be carefully considered among this population of patients living with a substantial medical burden. Optimal care of children with HTX requires a cohesive team of primary care providers and experienced subspecialists collaborating to provide compassionate, standardized and evidence-based care. In this statement, subspecialty experts experienced in HTX care and research collaborated to provide expert- and evidence-based suggestions addressing the numerous medical issues affecting children living with HTX.https://doi.org/10.1186/s13023-022-02515-2HeterotaxyLaterality disorderCongenital heart diseaseAsplenia |
| spellingShingle | Thomas G. Saba Gabrielle C. Geddes Stephanie M. Ware David N. Schidlow Pedro J. del Nido Nathan S. Rubalcava Samir K. Gadepalli Terri Stillwell Anne Griffiths Laura M. Bennett Murphy Andrew T. Barber Margaret W. Leigh Necia Sabin Adam J. Shapiro A multi-disciplinary, comprehensive approach to management of children with heterotaxy Orphanet Journal of Rare Diseases Heterotaxy Laterality disorder Congenital heart disease Asplenia |
| title | A multi-disciplinary, comprehensive approach to management of children with heterotaxy |
| title_full | A multi-disciplinary, comprehensive approach to management of children with heterotaxy |
| title_fullStr | A multi-disciplinary, comprehensive approach to management of children with heterotaxy |
| title_full_unstemmed | A multi-disciplinary, comprehensive approach to management of children with heterotaxy |
| title_short | A multi-disciplinary, comprehensive approach to management of children with heterotaxy |
| title_sort | multi disciplinary comprehensive approach to management of children with heterotaxy |
| topic | Heterotaxy Laterality disorder Congenital heart disease Asplenia |
| url | https://doi.org/10.1186/s13023-022-02515-2 |
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