Síndrome de Loeys-Dietz, una mutación en el gen TGFBR2, primer reporte en el suroccidente colombiano / Loeys-Dietz syndrome, a mutation in TGFBR2 gene, first report in the colombian suroccident
Med. lab
; 23(3/4): 187-194, mar-abr. 2017. ilus, graf
Article
in Spanish
| LILACS
| ID: biblio-883560
Responsible library:
CO373.9
RESUMEN
Resumen el síndrome de Loeys-Dietz es una rara enfermedad genética, autosómica dominante, con hábito marfanoide, que pertenece a un subconjunto de enfermedades del tejido conectivo con afectación esquelética, ocular y cardiovascular, principalmente. El desarrollo de aneurismas es característico en esta patología. El síndrome de Loeys-Dietz es causado por mutaciones en los genes TGFBR1, TGFBR2, TGFB2, TGFB3 Y SMAD3. En este manuscrito se describe el caso clínico de un paciente masculino, de 22 meses de vida, con una dilatación importante de la raíz aórtica y arco aórtico elongado cuya prueba molecular confirma el diagnóstico de síndrome de Loeys-Dietz, asociado a una mutación en el gen TGFBR2. Este corresponde al primer caso reportado en el suroccidente colombiano. (AU)
ABSTRACT
Abstract Loeys-Dietz syndrome is a rare, autosomal dominant genetic disease, with marfanoid habit, which belongs to a subset of diseases of the connective tissue with mainly skeletal, ocular, and cardiovascular involvement. Aneurysms development is characteristic in this pathology. Loeys-Dietz syndrome is caused by mutations in TGFBR1, TGFBR2, TGFB2, TGFB3 and SMAD3 genes. In this manuscript is presented the clinical case of a 22-month-old male patient with significant dilatation of the aortic root and elongated aortic arch is described. The molecular test confirms the diagnosis of Loeys-Dietz syndrome associated with a mutation in the TGFBR2 gene. This corresponds to the first case reported in the southwestern Colombian. (AU)
Full text:
Available
Collection:
International databases
Database:
LILACS
Main subject:
Sexual Vulnerability
Limits:
Humans
Country/Region as subject:
South America
/
Colombia
Language:
Spanish
Journal:
Med. lab
Journal subject:
Bacteriology
/
Medicine
Year:
2017
Document type:
Article
Affiliation country:
Colombia
Institution/Affiliation country:
Universidad del Cauca/CO