Asplenia syndrome: Insight into embryology through an analysis of cardiac and extracardiac anomalies

Phoon, Colin K.L.; Neill, Catherine A.

doi:10.1016/0002-9149(94)90338-7

Cited by 150 publications

(126 citation statements)

References 51 publications

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“…Aggregation of complete TGA and L-TGA in the same family suggests a possible genetic and causative connection between the 2 defects. Considering the high prevalence of TGA in patients with heterotaxy 29 and based on these cases of familial aggregation, the pathogenetic group of situs and loop abnormalities might include at least some cases of complete TGA.…”

Section: Discussionmentioning

confidence: 99%

Complete Transposition of the Great Arteries

et al. 2001

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Background Transposition of the great arteries (TGA) is considered to be associated only rarely with genetic syndromes and to have a low risk of precurrence among relatives of affected patients. Because most family studies have involved a relatively small number of patients and evaluated all types of TGA as a single group, we performed a large, prospective study investigating the precurrence of congenital heart disease in families of children with complete, nonsyndromic TGA. Methods and Results From January 1997 through December 2000, 370 patients with nonsyndromic, complete TGA were consecutively evaluated and enrolled in the study. The occurrence of cardiac and noncardiac anomalies among relatives of the probands was investigated. Relatives with congenital heart disease were found in 37 of 370 families (10%), including 5 of 37 families (13.5%) with more than one affected relative. TGA itself was the most common precurrent malformation: complete TGA occurred in 6 families and congenitally corrected TGA occurred in 5 families. Precurrence risks for congenital heart disease were calculated at 1.8% (8 of 436) for siblings, 0.5% (4 of 740) for parents, 0.5% (16 of 3261) for first cousins, 0.2% (4 of 2101) for uncles/aunts, and 0.06% (1 of 1480) for grandparents. Conclusions The present study shows that TGA is not always sporadic in families. Precurrence of concordant cardiac defects within affected family members supports monogenic or oligogenic inheritance of TGA in certain kindreds. Moreover, the occurrence of complete TGA and congenitally corrected TGA among first-degree relatives in several different families strongly suggests an underlying pathogenetic link between these 2 malformations that has been previously unrecognized.

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Section: Discussionmentioning

confidence: 99%

Complete Transposition of the Great Arteries

et al. 2001

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“…Among conotruncal defects found in a large series of patients with asplenia syndrome, 92% exhibited TGA (Phoon et al, 1994). In the same study, the reported incidence of DORV was 13% and pulmonary atresia was 37%.…”

Section: Dorv Versus Ad Defectsmentioning

confidence: 68%

Double Outlet Right Ventricle Versus Aortic Dextroposition: Morphologically Distinct Defects

Restivo

Unolt

Putotto

et al. 2013

The Anatomical Record

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This study concerns the morphological differentiation between double outlet right ventricle (DORV) and aortic dextroposition (AD) defects, namely tetralogy of Fallot and Eisenmenger anomaly. Indeed, despite the similar condition in terms of sequential ventriculo-arterial connections, DORV and AD are two distinct morphological entities. It is proposed that the borderline between these two groups of malformations is represented by the specific insertion of the infundibular septum into the left anterior cranial division of the septomarginal trabeculation (or septal band) occurring in ADs and lacking in DORV. Furthermore, the spiraliform versus straight parallel arrangement of the great arteries in the two groups of anomalies is emphasized as an additional and distinctive morphological feature. Emphasis is also given to the association of straight parallel great arteries conotruncal malformations, DORV and transposition of the great arteries, with the asplenia type of heterotaxy laterality defects. Within this context, the absence of subaortic ventricular septal defect and concomitantly of spiraliform great arteries in the asplenia group of heterotaxy anomalies, as detected by this study, further substantiates our belief of not mixing collectively the ADs with the DORV in clinico-pathological diagnosis.

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“…Female, 28-year-old patient with clinical signs of dyspnea since her childhood, sia, gastrointestinal malrotation and several cardiovascular alterations (6) .…”

Section: Case Reportmentioning

confidence: 99%

Heterotaxy syndrome: a case report

et al. 2013

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The present report describes the findings at chest computed tomography angiography of a 28-year-old female patient with heterotaxy syndrome. This syndrome consists of a variety of anomalies of position and morphology of thoracoabdominal organs which do not follow the situs solitus or situs inversus arrangement. Imaging studies play a fundamental role in the individualization of the approach to the patient. Keywords: Heterotaxy syndrome; Situs inversus; Spleen -abnormalities.Neste trabalho são apresentados os achados na angiotomografia computadorizada do tórax de uma paciente de 28 anos com síndrome de heterotaxia. Esta consiste em diversas anormalidades de posicionamento e morfologia de ór-gãos toracoabdominais, que não se enquadram no situs solitus ou situs inversus. Os exames de imagem são fundamentais na individualização da abordagem do paciente. Unitermos: Síndrome de heterotaxia; Situs inversus; Baço -anormalidades. AbstractResumo

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Asplenia syndrome: Insight into embryology through an analysis of cardiac and extracardiac anomalies

Cited by 150 publications

References 51 publications

Complete Transposition of the Great Arteries

Complete Transposition of the Great Arteries

Double Outlet Right Ventricle Versus Aortic Dextroposition: Morphologically Distinct Defects

Heterotaxy syndrome: a case report

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