Situs ambiguus

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Classification according to ICD-10
Q89.3 Situs inversus
ICD-10 online (WHO version 2019)

The situs ambiguus , from the Latin ambiguus 'ambiguous, ambiguous, ambiguous' , is a form of heterotaxia without a clear side assignment of the organ position in the chest and abdomen in contrast to the situs inversus .

Synonyms are: isomerism; Situs inversus, incomplete; Situs inversus, partial; Situs inversus ambiguus

Since heterotaxy represents a spectrum of various positional anomalies of organs, the terms are often not uniform and unambiguous, cf. Situs inversus ambiguus .

“Partial” often means a mirror-image positional anomaly that only affects the thoracic or abdominal organs. In contrast to this and a left or right isomerism, in the situs ambiguus , organs located laterally are usually shifted towards the middle of the body together with their vascular supply.

pathology

Compared to the situs inversus , the positional allocation of the body organs is disturbed early during fetal development .

The liver is in the middle. The bronchus anatomy is on both sides on the right or on both sides on the left. A bilateral right bronchus is associated with an asplenia and a bilateral left bronchus with a polysplenia.

Due to the abnormal course of the vessels, the development of the heart is also disturbed with a functional impairment in 50–80%. Cardiac and vascular malformations are often present, often pulmonary vein malformations , sometimes Fallot tetralogy , pulmonary atresia or atrio-ventricular septal defect .

Other organ variants or malformations such as primary ciliary dyskinesia ( Kartagener's syndrome ), bile duct atresia , congenital liver fibrosis or the Ivemark symptom complex can also occur.

root cause

Under heterotaxia numerous genetic cause are listed, including a mutation in ZIC3 - gene on the X chromosome locus q26.

In veterinary medicine

Situs ambiguus also occurs in animals.

literature

  • KN Narahari, A. Kapoor, SK Sanamandra, SR Varma Gunturi: Primary Ciliary Dyskinesia and Situs Ambiguus: A Rare Association. In: International journal of applied & basic medical research. Volume 8, number 1, 2018 Jan-Mar, pp. 48–50, doi : 10.4103 / ijabmr.IJABMR_341_16 , PMID 29552537 , PMC 5846221 (free full text).
  • AJ Shapiro, SD Davis, T. Ferkol, SD Dell, M. Rosenfeld, KN Olivier, SD Sagel, C. Milla, MA Zariwala, W. Wolf, JL Carson, MJ Hazucha, K. Burns, B. Robinson, MR Knowles , MW Leigh: Laterality defects other than situs inversus totalis in primary ciliary dyskinesia: insights into situs ambiguus and heterotaxy. In: Chest. Volume 146, number 5, November 2014, pp. 1176–1186, doi: 10.1378 / chest.13-1704 , PMID 24577564 , PMC 4219335 (free full text).
  • Jae-Gyung Kim, Ho-Joong Youn, Gee-Hee Kim and others a .: Incidentally Detected Situs Ambiguous in Adults. In: Journal of Cardiovasc Ultrasound. (J Cardiovasc Ultrasound.) December 2011, Volume 19, No. 4, pp. 211-215, doi: 10.4250 / jcu.2011.19.4.211 .

Individual evidence

  1. ↑ a b Situs ambiguus. In: Orphanet (Rare Disease Database).
  2. ↑ Radiopaedia
  3. ^ A. Lowenthal: Anatomy, clinical manifestations and diagnosis of heterotaxy (isomerism of the atrial appendages) . September 26, 2015. Retrieved November 4, 2015.
  4. ↑ Bernd Heublein et al. (Ed.): Heart, circulatory and vascular diseases. (= Handbook of Internal Diseases. Volume 1). Part 2, Gustav Fischer Verlag , Stuttgart / New York 1986, ISBN 3-437-10968-5 , pp. 239-241.
  5. ↑ Myron G. Sulyma (Ed.): Dictionary of cardiology. Volume IV: R − Z. Medikon Verlag, Munich 1984, ISBN 3-923866-10-0 , p. 681.
  6. ↑ W. Schuster, D. Färber (editor): Children's radiology. Imaging diagnostics. 2nd edition, Springer 1996, Vol. II, pp. 301f., ISBN 3-540-60224-0 .
  7. ↑ Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
  8. ^ Heterotaxy, visceral, 1, X-linked.  In: Online Mendelian Inheritance in Man . (English)
  9. ↑ GB Ferrero, M. Gebbia, G. Pilia, D. Witte, A. Peier, RJ Hopkin, WJ Craigen, LG Shaffer, D. Schlessinger, A. Ballabio, B. Casey: A submicroscopic deletion in Xq26 associated with familial situs ambiguus. In: American Journal of Human Genetics . Volume 61, Number 2, August 1997, pp. 395-401, doi: 10.1086 / 514857 , PMID 9311745 , PMC 1715914 (free full text).
  10. ↑ A. Boos, H. Geyer, U. Müller, J. Peter, T. Schmid, C. Gerspach, M. Previtali, M. Rütten, T. Sydler, CC Schwarzwald, EM Schraner, U. Braun: Situs ambiguus in a Brown Swiss cow with polysplenia: case report. In: BMC veterinary research. Volume 9, February 2013, p. 34, doi: 10.1186 / 1746-6148-9-34 , PMID 23421814 , PMC 3599286 (free full text).

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