Analysis of visceral heterotaxy according to splenic status, appendage morphology, or both

Uemura, Hiroji; Ho, Siew Yen; Devine, William A.; Anderson, Robert H.

doi:10.1016/s0002-9149(99)80243-4

Cited by 116 publications

(117 citation statements)

References 4 publications

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“…Although other authors have reported on the utility of some external and internal characteristics of the atrial appendages to define atrial morphology (Seo et al 1992 ;Webb et al 1996), the incidence of isomerism in adult, healthy iv\iv mice is very small (less than 5 %, Seo et al 1992). While full knowledge of the arrangement of the heart and thoracic and abdominal organs is critical in the setting of heterotaxia in humans (Anderson, 1996 ;Uemura et al 1995Uemura et al , 1999, the issue of isomerism appears to be secondary in the context of the present study.…”

Section: mentioning

confidence: 91%

Origin and course of the coronary arteries in normal mice and in iv/iv mice

Icardo

Colvée

2001

Journal of Anatomy

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This paper reports on the origin and distribution of the coronary arteries in normal mice and in mice of the iv\iv strain, which show situs inversus and heterotaxia. The coronary arteries were studied by direct observation of the aortic sinuses with the scanning electron microscope, and by examination of vascular corrosion casts. In the normal mouse, the left and right coronaries (LC, RC) arise from the respective Valsalva sinus and course along the ventricular borders to reach the heart apex. Along this course the coronary arteries give off small branches at perpendicular or acute angles to supply the ventricles. The ventricular septum is supplied by the septal artery, which arises as a main branch from the right coronary. Conus arteries arise from the main coronary trunks, from the septal artery and\or directly from the Valsalva sinus. The vascular casts demonstrate the presence of intercoronary anastomoses. The origin of the coronary arteries was found to be abnormal in 84 % of the iv\iv mice. These anomalies included double origin, high take-off, slit-like openings and the presence of a single coronary orifice. These anomalies occurred singly or in any combination, and were independent of heart situs. The septal artery originated from RC in most cases of situs solitus but originated predominantly from LC in situs inversus hearts. Except for this anomalous origin no statistical correlation was found between the coronary anomalies and heart situs or a particular mode of heterotaxia. The coronary anomalies observed in the iv\iv mice are similar to those found in human hearts. Most coronary anomalies appear to be due to defective connections between the aortic root and the developing coronaries. iv\iv mice may therefore constitute a good model to study the development of similar anomalies in the human heart.

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Section: mentioning

confidence: 91%

Origin and course of the coronary arteries in normal mice and in iv/iv mice

Icardo

Colvée

2001

Journal of Anatomy

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“…We propose that the evidence now supports a more effective description of splenic syndromes in terms of right or left isomerism, based ideally on knowledge of the morphology of the atrial appendages. If, however, the appendages are not visualized on imaging or at the time of cardiac surgery, the evidence at hand strongly supports the notion that the morphology of these structures can be inferred on the basis of associated congenital malformations (2,3).…”

mentioning

confidence: 71%

Polysplenia or Left Isomerism?

Loomba

Anderson

2016

Intern. Med.

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To the Editor Fukuda and colleagues described a patient with so-called "polysplenia syndrome" (1). Although frequently segregated on the basis of splenic anatomy, we would like to suggest that, from the cardiac point of view, splenic syndromes would be better assessed according to the morphology of the atrial appendages (2, 3). Most patients with multiple spleens, and all of those with left isomerism, have appendages with left morphology bilaterally. The counterpoint is that patients with right isomerism uniformly have appendages with right morphology bilaterally. There is, however, no specific arrangement of the abdominal organs that is significantly associated with either right or left isomerism. It is surely preferable nowadays to describe the abdominal organs based on their specific location, rather than creating uncertainty where none may exist by using alternative terms, such as "situs ambiguous"? Although patients with right isomerism usually show the absence of a spleen, they can have multiple spleens or even a solitary and normally located spleen. These findings go beyond mere anatomic curiosity, as they also portend important functional deficiencies. Functional asplenia, for example, may be present in those with solitary or multiple spleens (4, 5). Splenic anatomy should therefore not be used as a clinical indicator of the splenic function. The only justifiable assumption in this regard is that functional asplenia must exist when there is anatomic asplenia.Fukuda and colleagues rightfully point to the association of isomerism with arrhythmias. As they emphasize, atrioventricular block is most frequent in those with left isomerism. A majority of these arrhythmias occur before 5 years of age, pointing to the importance of the findings in their patient. The authors comment that patients with left isomerism often die by 5 years of age, although they referenced this observation based on a significantly old study. Our previously reported analysis of over 5,000 patients with heterotaxy revealed that half of the subjects with left isomerism were still alive at 18 years of age. The use of optimal terminology in describing the overall constellation of symptoms thus conveys anatomic, functional and prognostic information. We propose that the evidence now supports a more effective description of splenic syndromes in terms of right or left isomerism, based ideally on knowledge of the morphology of the atrial appendages. If, however, the appendages are not visualized on imaging or at the time of cardiac surgery, the evidence at hand strongly supports the notion that the morphology of these structures can be inferred on the basis of associated congenital malformations (2, 3).

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“…The atrial appendages are the most constant of the atrial morphological features, meaning that they can be used, from the stance of the heart, for segregating isomerism into its right and left isomeric subsets. [8][9][10] Examination of large numbers of autopsied specimens shows that this is a more reliable method of segregating heterotaxy than use of splenic anatomy. 11,12 Isomerism in the heart, furthermore, is also found in the conduction system, with sinus nodes known to be bilaterally present in the setting of right isomerism.…”

Section: Introductionmentioning

confidence: 99%

Genetic Disturbances in Patients with Bodily Isomerism from a Single Center: Clinical Implications of Affected Genes and Potential Impact of Ciliary Dyskinesia

Loomba

Frommelt

Anderson³

2016

Cardiogenetics

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So-called heterotaxy or isomerism is characterized by abnormal lateralization and malformations of the bodily organs. The mechanism is unclear, although there is growing evidence that ciliary dyskinesia is involved. We reviewed genetic findings from patients with isomerism to determine if affected genes were known to be associated with isomerism and ciliary dyskinesia and determine associations between genotype and clinical findings. We identified patients with isomerism cared for over a 16-year period. Characteristics were compared between those with and without identified mutations. A total of 83 patients with isomerism were identified. Of those who had genotyping, 14/27 had mutations identified, most frequently involving the CFC1 and NODAL genes. Specific mutations were associated with clinical findings, with NODAL mutations often portending need for increased clinical support. Genes associated with isomerism and/or ciliary dyskinesia were identified in the cohort. Specific gene mutations may help predict clinical course.

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Analysis of visceral heterotaxy according to splenic status, appendage morphology, or both

Cited by 116 publications

References 4 publications

Origin and course of the coronary arteries in normal mice and in iv/iv mice

Origin and course of the coronary arteries in normal mice and in iv/iv mice

Polysplenia or Left Isomerism?

Genetic Disturbances in Patients with Bodily Isomerism from a Single Center: Clinical Implications of Affected Genes and Potential Impact of Ciliary Dyskinesia

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