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Abnormality of abdominal situs

MedGen UID:
868855
•Concept ID:
C4023266
•
Anatomical Abnormality
HPO: HP:0011620

Definition

An abnormality of the abdominal situs, i.e., of the sidedness of the abdomen and its organs. [from HPO]

Professional guidelines

PubMed

Investigation of the genetic and clinical features of laterality disorders in prenatal diagnosis: discovery of a novel compound heterozygous mutation in the DNAH11 gene.
Zhang S, Wang J, Sun L, Han J, Xiong X, Xiao D, Wu Q
Arch Gynecol Obstet 2024 Aug;310(2):695-704. Epub 2024 Jun 9 doi: 10.1007/s00404-024-07574-3. PMID: 38852111
Human Laterality Disorders: Pathogenesis, Clinical Manifestations, Diagnosis, and Management.
Soofi M, Alpert MA, Barbadora J, Mukerji B, Mukerji V
Am J Med Sci 2021 Sep;362(3):233-242. Epub 2021 May 28 doi: 10.1016/j.amjms.2021.05.020. PMID: 34052215
Prenatal diagnosis of bowel malposition using T2-weighted fetal MRI sequences.
Kheiri M, Lesieur E, Dabadie A, Colombani M, Capelle M, Sigaudy S, Guidicelli B, Heckenroth H, Delagausie P, Pico H, Philip N, Bretelle F, Gorincour G
Diagn Interv Imaging 2016 Sep;97(9):857-61. Epub 2016 Mar 15 doi: 10.1016/j.diii.2016.01.010. PMID: 26993965

Recent clinical studies

Etiology

Human Laterality Disorders: Pathogenesis, Clinical Manifestations, Diagnosis, and Management.
Soofi M, Alpert MA, Barbadora J, Mukerji B, Mukerji V
Am J Med Sci 2021 Sep;362(3):233-242. Epub 2021 May 28 doi: 10.1016/j.amjms.2021.05.020. PMID: 34052215
Thoraco-Abdominal Abnormalities in Bardet-Biedl Syndrome: Situs Inversus and Heterotaxy.
Olson AJ, Krentz AD, Finta KM, Okorie UC, Haws RM
J Pediatr 2019 Jan;204:31-37. Epub 2018 Oct 4 doi: 10.1016/j.jpeds.2018.08.068. PMID: 30293640
The nomenclature, definition and classification of cardiac structures in the setting of heterotaxy.
Jacobs JP, Anderson RH, Weinberg PM, Walters HL 3rd, Tchervenkov CI, Del Duca D, Franklin RC, Aiello VD, Béland MJ, Colan SD, Gaynor JW, Krogmann ON, Kurosawa H, Maruszewski B, Stellin G, Elliott MJ
Cardiol Young 2007 Sep;17 Suppl 2:1-28. doi: 10.1017/S1047951107001138. PMID: 18039396
Situs ambiguous.
Sohail S, Memon MA, Rakhiyo A
J Coll Physicians Surg Pak 2003 Nov;13(11):656-7. PMID: 14700495
Abdominal manifestations of situs inversus in infants and children.
Fonkalsrud EW, Tompkins R, Clatworthy HW Jr
Arch Surg 1966 May;92(5):791-5. doi: 10.1001/archsurg.1966.01320230139025. PMID: 5934225

Diagnosis

Acute Cholecystitis With Situs Inversus Totalis.
Merrill R, Septaric K, Simon EL
J Emerg Med 2022 Mar;62(3):e77-e79. Epub 2022 Jan 20 doi: 10.1016/j.jemermed.2021.11.022. PMID: 35067391
Ambiguous Anatomy and Its Pain.
Aumeerally MI, Lin YT, Chua TC
Gastroenterology 2021 Mar;160(4):e13-e15. Epub 2020 Aug 7 doi: 10.1053/j.gastro.2020.07.058. PMID: 32777282
A Challenging Abdominal Pain.
Rocha M, Dias AM, Coimbra J
Gastroenterology 2020 May;158(6):e11-e13. Epub 2019 Nov 16 doi: 10.1053/j.gastro.2019.11.022. PMID: 31743733
The cardiac malpositions.
Perloff JK
Am J Cardiol 2011 Nov 1;108(9):1352-61. Epub 2011 Aug 20 doi: 10.1016/j.amjcard.2011.06.055. PMID: 21861958
Situs ambiguous.
Sohail S, Memon MA, Rakhiyo A
J Coll Physicians Surg Pak 2003 Nov;13(11):656-7. PMID: 14700495

Therapy

Clinical Presentation and Therapy of Anomalies of the Situs.
Haas NA, Driscoll DJ, Rickert-Sperling S
Adv Exp Med Biol 2024;1441:699-704. doi: 10.1007/978-3-031-44087-8_41. PMID: 38884743
Thoraco-Abdominal Abnormalities in Bardet-Biedl Syndrome: Situs Inversus and Heterotaxy.
Olson AJ, Krentz AD, Finta KM, Okorie UC, Haws RM
J Pediatr 2019 Jan;204:31-37. Epub 2018 Oct 4 doi: 10.1016/j.jpeds.2018.08.068. PMID: 30293640
Xenopus, an ideal model organism to study laterality in conjoined twins.
Tisler M, Schweickert A, Blum M
Genesis 2017 Jan;55(1-2) doi: 10.1002/dvg.22993. PMID: 28132423
Disorders of left-right asymmetry: heterotaxy and situs inversus.
Sutherland MJ, Ware SM
Am J Med Genet C Semin Med Genet 2009 Nov 15;151C(4):307-17. doi: 10.1002/ajmg.c.30228. PMID: 19876930
Case report: ranitidine-induced bradycardia in a patient with dextrocardia.
Yang J, Russell DA, Bourdeau JE
Am J Med Sci 1996 Sep;312(3):133-5. doi: 10.1097/00000441-199609000-00008. PMID: 8783681

Prognosis

Acute appendicitis and situs viscerum inversus: radiological and surgical approach-a systematic review.
Di Buono G, Buscemi S, Galia M, Maienza E, Amato G, Bonventre G, Vella R, Saverino M, Grassedonio E, Romano G, Agrusa A
Eur J Med Res 2023 Feb 20;28(1):85. doi: 10.1186/s40001-023-01059-w. PMID: 36805741Free PMC Article
Human Laterality Disorders: Pathogenesis, Clinical Manifestations, Diagnosis, and Management.
Soofi M, Alpert MA, Barbadora J, Mukerji B, Mukerji V
Am J Med Sci 2021 Sep;362(3):233-242. Epub 2021 May 28 doi: 10.1016/j.amjms.2021.05.020. PMID: 34052215
Heterotaxy Syndrome and Intestinal Rotation Abnormalities.
Ryerson LM, Pharis S, Pockett C, Soni R, Fruitman D, Guleserian KJ, Nater M, Raynor SC, Mackie AS, Dicken B
Pediatrics 2018 Aug;142(2) doi: 10.1542/peds.2017-4267. PMID: 30049892
Cardiac and Non-Cardiac Abnormalities in Heterotaxy Syndrome.
Mishra S
Indian J Pediatr 2015 Dec;82(12):1135-46. Epub 2015 Nov 26 doi: 10.1007/s12098-015-1925-x. PMID: 26612104
Cardiovascular manifestations of heterotaxy and related situs abnormalities assessed with CT angiography.
Wolla CD, Hlavacek AM, Schoepf UJ, Bucher AM, Chowdhury S
J Cardiovasc Comput Tomogr 2013 Nov-Dec;7(6):408-16. Epub 2013 Nov 7 doi: 10.1016/j.jcct.2013.11.008. PMID: 24331937Free PMC Article

Clinical prediction guides

Human Genetics of Defects of Situs.
Perrot A, Rickert-Sperling S
Adv Exp Med Biol 2024;1441:705-717. doi: 10.1007/978-3-031-44087-8_42. PMID: 38884744
Acute appendicitis and situs viscerum inversus: radiological and surgical approach-a systematic review.
Di Buono G, Buscemi S, Galia M, Maienza E, Amato G, Bonventre G, Vella R, Saverino M, Grassedonio E, Romano G, Agrusa A
Eur J Med Res 2023 Feb 20;28(1):85. doi: 10.1186/s40001-023-01059-w. PMID: 36805741Free PMC Article
Thoraco-Abdominal Abnormalities in Bardet-Biedl Syndrome: Situs Inversus and Heterotaxy.
Olson AJ, Krentz AD, Finta KM, Okorie UC, Haws RM
J Pediatr 2019 Jan;204:31-37. Epub 2018 Oct 4 doi: 10.1016/j.jpeds.2018.08.068. PMID: 30293640
Comparison of situs ambiguous patterns between heterotaxy syndromes with polysplenia and asplenia.
Yoneyama H, Kondo C, Yamasaki A, Nakanishi T, Sakai S
Eur J Radiol 2015 Nov;84(11):2301-6. Epub 2015 Aug 5 doi: 10.1016/j.ejrad.2015.08.004. PMID: 26304785
Case report: ranitidine-induced bradycardia in a patient with dextrocardia.
Yang J, Russell DA, Bourdeau JE
Am J Med Sci 1996 Sep;312(3):133-5. doi: 10.1097/00000441-199609000-00008. PMID: 8783681

Recent systematic reviews

Association between types of abdominopelvic cancer in patients with situs inversus total: Systematic review.
Valenzuela-Fuenzalida JJ, Martínez Hernández D, Milos-Brandenberg D, Koscina Z, Avila-Sepulveda R, Baez B, Perez-Jimenez D, Nova Baeza P, Orellana Donoso M, Bruna-Mejias A
Medicine (Baltimore) 2024 Feb 23;103(8):e37093. doi: 10.1097/MD.0000000000037093. PMID: 38394506Free PMC Article
Bariatric and Metabolic Surgery in Patients with Situs Inversus: a Systematic Review.
Sakran N, Stier C, Parmar C, Pouwels S
Obes Surg 2023 Nov;33(11):3628-3635. Epub 2023 Oct 6 doi: 10.1007/s11695-023-06847-1. PMID: 37801236
Acute appendicitis and situs viscerum inversus: radiological and surgical approach-a systematic review.
Di Buono G, Buscemi S, Galia M, Maienza E, Amato G, Bonventre G, Vella R, Saverino M, Grassedonio E, Romano G, Agrusa A
Eur J Med Res 2023 Feb 20;28(1):85. doi: 10.1186/s40001-023-01059-w. PMID: 36805741Free PMC Article
An eye on the future for defeating hydrocephalus, ciliary dyskinesia-related hydrocephalus: review article.
Hasanain AA, Soliman MAR, Elwy R, Ezzat AAM, Abdel-Bari SH, Marx S, Jenkins A, El Refaee E, Zohdi A
Br J Neurosurg 2022 Jun;36(3):329-339. Epub 2022 May 17 doi: 10.1080/02688697.2022.2074373. PMID: 35579079

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