Abnormalities of Situs

Marino, Bruno; Versacci, Paolo; Guccione, Paolo; Carotti, Adriano

doi:10.1002/9781444398786.ch50

Cited by 2 publications

(4 citation statements)

References 236 publications

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“…Por otra parte, la dextrocardia y la hipoplasia del ventrículo derecho son otras alteraciones que se han reportado de forma atípica en algunos casos descritos en la literatura 7 , que se asocian en este caso a un tipo poco frecuente de DSVD.…”

Section: Discussionunclassified

Dextrocardia con doble salida del ventrículo derecho con comunicación interventricular no relacionada asociada a malposición de grandes vasos

Ríos-Dueñas¹,

Galán-Cadena²,

Olmos-Muskus³

et al. 2022

RCCAR

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En el siguiente reporte se expone un caso complejo en el que coexisten malformaciones cardiacas congénitas de presentación atípica con un doble tracto de salida del ventrículo derecho, en un paciente con múltiples anomalías menores en la exploración física y un cariotipo normal. La atipia de cada una de estas y su coexistencia hacen pensar en posibles alteraciones genéticas que aún son desconocidas. Lo anterior supone un reto terapéutico con el fin de restaurar una fisiología cardiaca compatible con la vida, lo cual se logra en este caso mediante un cerclaje exitoso de la arteria pulmonar.

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Section: Discussionunclassified

Dextrocardia con doble salida del ventrículo derecho con comunicación interventricular no relacionada asociada a malposición de grandes vasos

Ríos-Dueñas¹,

Galán-Cadena²,

Olmos-Muskus³

et al. 2022

RCCAR

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“…We have previously suggested that the normal (right-handed) spiral pattern of the great arteries and the prevailing right-handed spiral pattern of snail shells show some phenotypic similarities ( 35 , 75 – 77 ) (Figure 2 ).…”

Section: Ventricular Looping and Spirality Heterotaxy And Transposimentioning

confidence: 95%

“…On the other hand, in subjects with TGA with or without asplenia/right isomerism any spiral pattern of the great arteries is lost: the two great arteries run parallel to each other, without any sign of spiralization (35, 75, 76). Therefore, we hypothesized that these normal and abnormal anatomical aspects, comparable in humans and in shells, could share a common genetic mechanism (35, 75, 77).…”

Section: Ventricular Looping and Spirality Heterotaxy And Transposimentioning

confidence: 99%

“…Our morphological observations of cardiac defects in laterality disorders, including TGA, showed that in persons with situs inversus, the normal (right-handed) spiral pattern of the great arteries is inverted, showing a left-handed spiral pattern similar to a minority of shells. On the other hand, in subjects with TGA with or without asplenia/right isomerism any spiral pattern of the great arteries is lost: the two great arteries run parallel to each other, without any sign of spiralization ( 35 , 75 , 76 ). Therefore, we hypothesized that these normal and abnormal anatomical aspects, comparable in humans and in shells, could share a common genetic mechanism ( 35 , 75 , 77 ).…”

Section: Ventricular Looping and Spirality Heterotaxy And Transposimentioning

confidence: 99%

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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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Abnormalities of Situs

Cited by 2 publications

References 236 publications

Dextrocardia con doble salida del ventrículo derecho con comunicación interventricular no relacionada asociada a malposición de grandes vasos

Dextrocardia con doble salida del ventrículo derecho con comunicación interventricular no relacionada asociada a malposición de grandes vasos

Transposition of great arteries: new insights into the pathogenesis

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