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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

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
Azygous continuation of the interrupted inferior vena cava: a clue to prenatal diagnosis of the cardiosplenic syndromes.
Sheley RC, Nyberg DA, Kapur R
J Ultrasound Med 1995 May;14(5):381-7. doi: 10.7863/jum.1995.14.5.381. PMID: 7609017

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
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
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

Diagnosis

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
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
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
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

Therapy

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
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
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
Mutation of HES7 in a large extended family with spondylocostal dysostosis and dextrocardia with situs inversus.
Sparrow DB, Faqeih EA, Sallout B, Alswaid A, Ababneh F, Al-Sayed M, Rukban H, Eyaid WM, Kageyama R, Ellard S, Turnpenny PD, Dunwoodie SL
Am J Med Genet A 2013 Sep;161A(9):2244-9. Epub 2013 Jul 29 doi: 10.1002/ajmg.a.36073. PMID: 23897666
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

Prognosis

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
Abnormal abdominal situs: what and how should we look for?
Salomon LJ, Baumann C, Delezoide AL, Oury JF, Pariente D, Sebag G, Garel C
Prenat Diagn 2006 Mar;26(3):282-5. doi: 10.1002/pd.1401. PMID: 16506280

Clinical prediction guides

Evaluation fetal heart in the first and second trimester: Results and limitations.
K Dilek TU, Oktay A, Aygun EG, Ünsal G, Pata Ö
Niger J Clin Pract 2023 Jun;26(6):787-794. doi: 10.4103/njcp.njcp_757_22. PMID: 37470654
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
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
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
Acute and chronic presentation of intestinal nonrotation in adults.
von Flüe M, Herzog U, Ackermann C, Tondelli P, Harder F
Dis Colon Rectum 1994 Feb;37(2):192-8. doi: 10.1007/BF02047549. PMID: 8306846

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: 38394506
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
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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