Morphogenesis of Congenital Heart Anomaly : Bulboventricular Malformations : I. Congenital Heart Diseases : SYMPOSIUM ON GENE-ENVIRONMENT INTERACTION IN CARDIOVASCULAR DISEASES

Okamoto, Naomasa; Satow, Yukio; Hidaka, Nobuto; Akimoto, Naotaka; Miyabara, Shinichi

doi:10.1253/jcj.42.1105

Cited by 24 publications

(1 citation statement)

References 22 publications

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“…A possible relationship between TGA and anomalies of ventricular looping has been already speculated in times past (1, 48–50), but scientific literature has not supported this hypothesis (51). Nowadays, the recent evidences suggest that TGA is most closely associated with the Heterotaxy syndrome.…”

Section: Genetic Syndromes and Extracardiac Malformationsmentioning

confidence: 97%

Transposition of great arteries: new insights into the pathogenesis

et al. 2013

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Transposition of great arteries (TGA) is one of the most common and severe congenital heart diseases (CHD). It is also one of the most mysterious CHD because it has no precedent in phylogenetic and ontogenetic development, it does not represent an alternative physiological model of blood circulation and its etiology and morphogenesis are still largely unknown. However, recent epidemiologic, experimental, and genetic data suggest new insights into the pathogenesis. TGA is very rarely associated with the most frequent genetic syndromes, such as Turner, Noonan, Williams or Marfan syndromes, and in Down syndrome, it is virtually absent. The only genetic syndrome with a strong relation with TGA is Heterotaxy. In lateralization defects TGA is frequently associated with asplenia syndrome. Moreover, TGA is rather frequent in cases of isolated dextrocardia with situs solitus, showing link with defect of visceral situs. Nowadays, the most reliable method to induce TGA consists in treating pregnant mice with retinoic acid or with retinoic acid inhibitors. Following such treatment not only cases of TGA with d-ventricular loop have been registered, but also some cases of congenitally corrected transposition of great arteries (CCTGA). In another experiment, the embryos of mice treated with retinoic acid in day 6.5 presented Heterotaxy, suggesting a relationship among these morphologically different CHD. In humans, some families, beside TGA cases, present first-degree relatives with CCTGA. This data suggest that monogenic inheritance with a variable phenotypic expression could explain the familial aggregation of TGA and CCTGA. In some of these families we previously found multiple mutations in laterality genes including Nodal and ZIC3, confirming a pathogenetic relation between TGA and Heterotaxy. These overall data suggest to include TGA in the pathogenetic group of laterality defects instead of conotruncal abnormalities due to ectomesenchymal tissue migration.

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Section: Genetic Syndromes and Extracardiac Malformationsmentioning

confidence: 97%

Transposition of great arteries: new insights into the pathogenesis

et al. 2013

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Making more heart muscle

2004

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Postnatally, heart muscle cells almost completely lose their ability to divide, which makes their loss after trauma irreversible. Potential repair by cell grafting or mobilizing endogenous cells is of particular interest for possible treatments for heart disease, where the poor capacity for cardiomyocyte proliferation probably contributes to the irreversibility of heart failure. Knowledge of the molecular mechanisms that underly formation of heart muscle cells might provide opportunities to repair the diseased heart by induction of (trans) differentiation of endogenous or exogenous cells into heart muscle cells. We briefly review the molecular mechanisms involved in early development of the linear heart tube by differentiation of mesodermal cells into heart muscle cells. Because the initial heart tube does not comprise all the cardiac compartments present in the adult heart, heart muscle cells are added to the distal borders of the tube and within the tube. At both distal borders, mesodermal cell are recruited into the cardiac lineage and, within the heart tube, muscular septa are formed. In this review, the relative late additions of heart muscle cells to the linear heart tube are described and the potential underlying molecular mechanisms are discussed.

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The anatomy of cardiac looping: A step towards the understanding of the morphogenesis of several forms of congenital cardiac malformations

2008

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The early embryonic heart of vertebrates is a simple tubular pump. During the early phases of its development, the initially straight embryonic heart tube becomes transformed into a helically wound loop that is normally seen with a counterclockwise winding. This process is named cardiac looping. Such looping not only establishes the basic type of topological left-right asymmetry of the ventricular chambers but, additionally, is also said to bring the segments of the heart tube and the developing great vessels into an approximation of their definitive topographical relationships. Cardiac looping is, therefore, regarded as the key process in cardiac morphogenesis and pathologists have speculated since the beginning of the 20th century that several forms of congenital cardiac malformations (e.g., with mirror-imaged arrangement of the ventricular chambers) might result from disturbances in looping morphogenesis. In this article a review is given on (1) differences in the usage of the term cardiac looping; (2) our current knowledge of the dynamically changing anatomy of the looping embryonic heart; and (3) our current knowledge of the role of looping anomalies in the morphogenesis of congenital cardiac malformations.

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Morphogenesis of Congenital Heart Anomaly : Bulboventricular Malformations : I. Congenital Heart Diseases : SYMPOSIUM ON GENE-ENVIRONMENT INTERACTION IN CARDIOVASCULAR DISEASES

Cited by 24 publications

References 22 publications

Transposition of great arteries: new insights into the pathogenesis

Transposition of great arteries: new insights into the pathogenesis

Making more heart muscle

The anatomy of cardiac looping: A step towards the understanding of the morphogenesis of several forms of congenital cardiac malformations

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