A Case of Near Total Aortic Replacement in an Adolescent With Loeys-Dietz Syndrome

Loeys-Dietz syndrome is a recently described autosomal dominant disorder caused by mutations in the genes for transforming growth factor-beta receptor type 1 or 2 (TGF-ßR 1/2). The syndrome predisposes patients to aortic aneurysm and dissections, along with craniofacial and musculoskeletal abnormali...

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Detalles Bibliográficos
Autores principales: Suh, Yoon Jung, Kwon, Hye Won, Kim, Gi Beom, Kwon, Bo Sang, Bae, Eun Jung, Noh, Chung Il, Choi, Jung Yun, Kim, Kyung Hwan, Kim, Yong Jin, Park, Sung Sup
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Society of Cardiology 2012
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3341429/
https://www.ncbi.nlm.nih.gov/pubmed/22563345
http://dx.doi.org/10.4070/kcj.2012.42.4.288
Descripción
Sumario:Loeys-Dietz syndrome is a recently described autosomal dominant disorder caused by mutations in the genes for transforming growth factor-beta receptor type 1 or 2 (TGF-ßR 1/2). The syndrome predisposes patients to aortic aneurysm and dissections, along with craniofacial and musculoskeletal abnormalities. Here we report the case of an adolescent who underwent serial near total aortic replacement, from the aortic valve to the descending aorta. Loeys-Dietz syndrome was confirmed in this case by the detection of a mutation in the TGF-ßR 2 gene.

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