An embryologic explanation for the corrected transposition of the great vessels: Additional description of the main anatomic features of this malformation and its varieties

Cruz, María V. de la; Anselmi, G; Cisneros, Fernando; Reinhold, M; Portillo, Bolívar; Espino-Vela, Jorge

doi:10.1016/0002-8703(59)90360-6

Cited by 68 publications

(5 citation statements)

References 5 publications

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“…In addition the coronary arteries show inversion and transposition. The plane of the interventricular septum is rotated through 180 degrees so that it runs from the back to the front and from left to right (De La Cruz et al, 1959). The interior of the right ventricle has all the anatomical features of a normal left ventricle, while the left-sided ventricular chamber has the features of a right ventricle.…”

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confidence: 99%

Corrected Transposition of the Great Vessels

Beck¹,

Schrire²,

Vogelpoel³

et al. 1961

Heart

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Corrected transposition of the great vessels is a congenital anomaly first described by von Rokitansky in 1875. In its most common form it consists of transposition and inversion of the great vessels and inversion of the ventricles, while the atria and their venous connections are normally situated. The right atrium connects with the left ventricle via a bicuspid valve on the right side and this right-sided, but anatomically left, ventricle joins the pulmonary trunk arising posteriorly and to the right of the aorta. Similarly, the left atrium connects via a tricuspid valve to an anatomically right ventricle on the left side, from which arises the aorta anteriorly and to the left of the pulmonary trunk. The great vessels then ascend side by side without crossing over in the normal manner. In this way the aorta receives oxygenated blood and the pulmonary artery desaturated blood. In addition the coronary arteries show inversion and transposition. The plane of the interventricular septum is rotated through 180 degrees so that it runs from the back to the front and from left to right (De La Cruz et al., 1959). The interior of the right ventricle has all the anatomical features of a normal left ventricle, while the left-sided ventricular chamber has the features of a right ventricle. Walmsley (1931) has demonstrated the reversal of the usual pattern of the conduction system in that the atrio-ventricular bundle and its branches proceed along the septal wall of the right-sided ventricle. Cardell (1956) and Anderson et al. (1957) have reviewed the various types of corrected transposition that may occur. These types depend on the presence of sinu-atrial, ventricular, and bulbar inversion in various combinations.Various embryological explanations have been given in an attempt to understand the mechanism of development of this abnormality. Spitzer's (1929) conception of the role of torsion and detorsion has been accepted by some, while others like Walmsley (1931) (1942), Davis (1927), Streeter (1948), andLicata (1954) who have studied a large number of human embryos at the Department of Embryology of the Carnegie Institute, Washington and other universities. They conclude that corrected transposition, in any of its varieties, is a complex malformation in which two embryonic elements are involved, namely the bulbo-ventricular loop and the cono-truncal septum. They propose an embryological explanation of the defect in a normally situated heart, in mirror image dextrocardia, and in dextro-rotation.Corrected transposition rarely exists as an isolated abnormality. Cardell (1956) mentions two patients without associated abnormalities, one of whom had heart block. Edwards et al. (1954) quote a patient, in whom the defect existed as an isolated asymptomatic lesion. More recently Schaefer and Rudolph (1957) reported a patient who died in congestive heart failure at the age of 36 with heart block, but there was no other abnormality. The vast majority of cases have some associated lesion, an atrial septal defect, ventricular s...

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confidence: 99%

Corrected Transposition of the Great Vessels

Beck¹,

Schrire²,

Vogelpoel³

et al. 1961

Heart

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“…Our results highlight distinct morphogenetic and molecular mechanisms for ventricle malposition in crisscross heart, compared to heterotaxy. Whereas heterotaxy is associated with defective heart looping (Campione et al, 1999;De La Cruz et al, 1959;Desgrange et al, 2020;Van Praagh et al, 1964;Yan et al, 1999), we show that criss-cross heart is not. In addition, heterotaxy results from impaired left-right signalling upon mutations in ciliary genes or in Nodal pathway components (Hummel and Chapman, 1959;Meno et al, 1998;Supp et al, 1997) whereas we identify a novel gene network associated with criss-cross heart, involving Greb1l.…”

Section: Discussionmentioning

confidence: 51%

Torsion of the heart tube by shortage of progenitor cells : identification ofGreb1las a genetic determinant of criss-cross hearts in mice

Bernheim,

Borgel,

Garrec

et al. 2023

Preprint

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Despite their burden and impact, most congenital defects remain poorly understood by lack of knowledge of the embryological mechanisms. Here, we identify Greb1l mutants as the first mouse model of criss-cross heart. Based on 3D quantifications of shape changes, we demonstrate that torsion of the atrioventricular canal occurs together with supero-inferior ventricles at E10.5, after heart looping. Mutants phenocopy specific features of partial deficiency in retinoic acid signalling, suggesting that GREB1L is a novel modulator of this signalling. Spatio-temporal gene mapping and cross-correlated transcriptomic analyses further reveal the role of Greb1l in maintaining a pool of precursor cells during heart tube elongation, by controlling ribosome biogenesis and cell differentiation. Growth arrest and malposition of the outflow tract are predictive of abnormal tube remodelling in mutants. Our work on a rare cardiac malformation opens novel perspectives on the origin of a broader spectrum of congenital defects associated with GREB1L in humans.

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“…5,7 Our results highlight distinct morphogenetic and molecular mechanisms for ventricle malposition in crisscross heart, compared with heterotaxy. Whereas heterotaxy is associated with defective heart looping, 10,23,[54][55][56] we show that crisscross heart is not. In addition, heterotaxy results from impaired left-right signaling upon mutations in ciliary genes or in Nodal pathway components, [51][52][53] whereas we identify a distinct gene network associated with crisscross heart, involving GREB1L.…”

Section: Discussionmentioning

confidence: 55%

Identification of Greb1l as a genetic determinant of crisscross heart in mice showing torsion of the heart tube by shortage of progenitor cells

Bernheim,

Borgel,

Le Garrec

et al. 2023

Developmental Cell

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An embryologic explanation for the corrected transposition of the great vessels: Additional description of the main anatomic features of this malformation and its varieties

Cited by 68 publications

References 5 publications

Corrected Transposition of the Great Vessels

Corrected Transposition of the Great Vessels

Torsion of the heart tube by shortage of progenitor cells : identification ofGreb1las a genetic determinant of criss-cross hearts in mice

Identification of Greb1l as a genetic determinant of crisscross heart in mice showing torsion of the heart tube by shortage of progenitor cells

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