IN THE GROSS ANATOMY LABORATORY: A REVIEW OF THE EMBRYOLOGY AND MOLECULAR GENETICS OF THE ABERRANT RIGHT SUBCLAVIAN ARTERY. En el laboratorio de Anatomía macroscópica: Revisión de la embriología y genética molecular de la arteria subclavia derecha aberra
DOI:
https://doi.org/10.31051/1852.8023.v5.n2.14062Palabras clave:
aortic arch syndromes, embryology, genetics, subclavian arteries, síndromes del arco aórtico, embriología, genética, arterias subclaviasResumen
La disección del cadáver embalsamado de una mujer de 66-años por los estudiantes de medicina de primer año de anatomía general, reveló la presencia de una arteria subclavia derecha aberrante (ASDA) de trayecto retroesofágico. La prevalencia de una ASDA en la población normal es del 0.2-2.0%. Se ha reportado que la ASDA tiene una asociación con varias deformidades congénitas, tales como el síndrome de Down, Kommerell divertículo, y varias otras anomalías. No es común asociar síntomas clínicos con la ASDA, sin embargo, el síntoma más común es la disfagia lusoria. Hemos descubierto que la ASD se originó desde la porción más distal del arco aórtico en una posición retroesofágica. Medidas pertinentes de las arterias se grabaron y un análisis para obtener información clínica, genética, y embriológica acerca de la ASDA se realizó. Como en la mayoría de los casos, el curso de la ASDA fue entre el esófago y la columna vertebral. Se ha demostrado que una región en el cromosoma humano 22 (22q11) está involucrada en el desarrollo normal de los vasos del arco aórtico. Este artículo ilustra cómo el descubrimiento de una variante a través de la disección da pie a estudiantes de medicina a aprender y repasar la literatura, sobre la embriología y la genética molecular, sobre anomalías del arco aórtico y sus correlaciones clínicas.
Dissection of a 66-year-old female embalmed cadaver by medical students in a first-year gross anatomy course revealed the presence of an aberrant (retroesophageal) right subclavian artery (ARSA). The prevalence of an ARSA is between 0.2-2.0% in the normal population. ARSA has been reported to have an association with various congenital deformities, such as Down syndrome, Kommerell diverticulum, and various other anomalies. Clinical symptoms are usually not associated with ARSAs but when present, the most common symptom is dysphagia lusoria. We discovered that the RSA originated from the most distal portion of the aortic arch in a retroesophageal position. Relevant measurements of the vessel were recorded and a review was conducted to obtain clinical, genetic, and embryological information about the ARSA. As in the majority of cases, the course of the ARSA was between the esophagus and the vertebral column. A region on human chromosome 22 (22q11) has been shown to be involved in normal development of the aortic arch vessels. This paper illustrates how discovery of a variant via dissection prompted medical students to learn and review the literature of aortic arch anomalies and their clinical correlations.
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