heterotaxy

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2014/10/17 08:45:48」(JST)

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Situs ambiguus or situs ambiguous (the former spelling is more correct etymologically, but the latter spelling is very common), also known as heterotaxy or heterotaxia, is a rare congenital defect in which the major visceral organs are distributed abnormally within the chest and abdomen.

The normal position of the organs is known as situs solitus; situs inversus is a condition in which the usual positions of the organs are reversed from left to right as a mirror image of the normal condition. If these are the two extreme positions on a continuum of asymmetric thoracic and abdominal organ formation, situs ambiguus covers everything in between. Both individuals with situs solitus and those with situs inversus generally have no functional impairments in their organ systems. In contrast, the mixing of organ asymmetries found in situs ambiguus often leads to severe and potentially fatal complications, usually of the heart or lungs.

Presentation

Classically, it comprises:

• Cardiac looping malformations – commonly Fallot’s tetralogy, transposition of the great vessels, pulmonary valve stenosis, and ventricular and atrial septal defects.
• Deranged abdominal organ asymmetry - the stomach and spleen are particularly prone to isolated reversal, and the stomach, liver, and a single adrenal gland are occasionally found in the midline.
• Organ malformations - chiefly asplenia-polysplenia, and more rarely a failure of the head of the pancreas to form, and horseshoe adrenals and kidneys.
• Rotation errors, causing volvulus and/or faulty peritoneal attachments.

More rarely, vascular abnormalities are found, including interrupted inferior vena cava, bilateral superior or inferior venae cavae, intrahepatic interruption of the inferior vena cava with connection to the azygos or hemiazygos veins, and aberrant portal veins.

Causes

Although its etiology is poorly understood, it has been found to be linked to family history of malformations, and maternal cocaine use, suggesting both genetic and environmental factors play a role.

Genetic associations of heterotaxy include:

Type	OMIM	Gene	Locus
HTX1	306955	ZIC3	Xq26.2
HTX2	605376	CFC1	2q21.1
HTX3	606325	PA26	6q21
HTX4	613751	ACVR2B	992
HTX5	270100	NODAL	10q22.1

See also

• Situs inversus
• Situs solitus
• Chirality (mathematics)
• Asplenia
• Polysplenia
• Ivemark syndrome

References

External links

• radio/639 at eMedicine

UpToDate Contents

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• 1. 内臓逆位（心耳の構造異性）の解剖学、臨床症状および診断 anatomy clinical manifestations and diagnosis of heterotaxy isomerism of the atrial appendages
• 2. 内臓逆位（心耳の構造異性）のマネージメントおよび転帰 management and outcome of heterotaxy isomerism of the atrial appendages
• 3. 原発性線毛機能不全（線毛不動症候群） primary ciliary dyskinesia immotile cilia syndrome
• 4. 房室（AV）管欠損の臨床症状、病態生理、および診断 clinical manifestations pathophysiology and diagnosis of atrioventricular av canal defects
• 5. 小児における腸管回転異常 intestinal malrotation in children

English Journal

• The prevalence of clinical features associated with primary ciliary dyskinesia in a heterotaxy population: results of a web-based survey.

• Shapiro AJ1, Tolleson-Rinehart S2, Zariwala MA3, Knowles MR4, Leigh MW2.
• Cardiology in the young.Cardiol Young.2015 Apr;25(4):752-9. doi: 10.1017/S1047951114000912. Epub 2014 Jun 6.
• Primary ciliary dyskinesia and heterotaxy are rare but not mutually exclusive disorders, which result from cilia dysfunction. Heterotaxy occurs in at least 12.1% of primary ciliary dyskinesia patients, but the prevalence of primary ciliary dyskinesia within the heterotaxy population is unknown. We d
• PMID 24905662

• ADAM "sequence" part II: Hypothesis and speculation.

• Opitz JM1, Johnson DR, Gilbert-Barness EF.
• American journal of medical genetics. Part A.Am J Med Genet A.2015 Mar;167(3):478-503. doi: 10.1002/ajmg.a.36937. Epub 2015 Jan 21.
• Noted for centuries in humans, a relatively hairless mammal [e.g., Hallero, 1766; Hohl, 1828 in Klunker, 2003], the so-called amniotic deformities, adhesions, mutilations (ADAM) sequence remains causally and pathogenetically incognito. In 1930 Streeter stated " apodictically" that no evidence has be
• PMID 25604972

• Heterotaxy syndrome infants are at risk for early shunt failure after ladd procedure.

• Sen S1, Duchon J1, Lampl B2, Aspelund G3, Bacha E3, Krishnamurthy G4.
• The Annals of thoracic surgery.Ann Thorac Surg.2015 Mar;99(3):918-25. doi: 10.1016/j.athoracsur.2014.09.077. Epub 2015 Jan 13.
• BACKGROUND: Cardiac-specific risks and complications after a Ladd procedure in patients with heterotaxy syndrome (HS) and intestinal rotational anomalies (IRA) are unknown. We sought to (1) describe rates of hospital mortality and early systemic-to-pulmonary (S-P) artery shunt failure after the Ladd
• PMID 25595831

Japanese Journal

• ペースメーカーを装着した多脾症候群患児の唾石摘出術に対する全身麻酔経験

• 日本歯科麻酔学会雑誌 46(1), 19-21, 2018
• NAID 130006313389

• 症例報告 出生前診断を行った内臓錯位症候群の3例

• 東京産科婦人科学会会誌 66(2), 310-315, 2017-04
• NAID 40021214587

• 内臓錯位症候群を伴う原発性肺癌の1切除例

• 日本呼吸器外科学会雑誌 31(7), 847-852, 2017
• NAID 130006201486

Related Links

• What is Heterotaxy?

Heterotaxy with asplenia or polysplenia, Ivemark Syndrome From the Madisons Foundation m-Power® Rare Disease Database: What Heterotaxy syndrome is a disorder that results in certain organs forming on the opposite side of the ...

• Heterotaxy Syndrome - National Center for Biotechnology ...

Left Isomerism Left isomerism in the context of the congenitally malformed heart is defined as a subset of heterotaxy where some paired structures on opposite sides of the left-right axis of the body are symmetrical mirror ...