Ascending Aortic Rupture in a Young Woman with Loeys-Dietz Syndrome: The First Case Report in Korea / 대한흉부외과학회지
The Korean Journal of Thoracic and Cardiovascular Surgery
;
: 639-644, 2009.
Artigo
em Coreano
| WPRIM
| ID: wpr-54986
ABSTRACT
Characterized by unique phenotypic features such as aortic aneurysm/dissection, hypertelorism, bifid uvula/cleft palate and generalized tortuosity in the arterial system, Loeys-Dietz syndrome is a newly described aggressive connective tissue disorder associated with mutation in the gene encoding transforming growth factor-beta receptor type I or type II. Some phenotypic manifestations of Loeys-Dietz syndrome overlap with those of Marfan syndrome or Ehlers-Danlos syndrome type IV. However, due to its more malignant pathophysiologic nature, physicians should be alert to Loeys-Dietz syndrome. High suspicion, early diagnosis, preventive surgery and serial imaging assessments are warranted for optimal management of Loeys-Dietz syndrome. We present here a case of a young patient with Loeys-Dietz syndrome who had aortic rupture, bifid uvula and hypertelorism. We also present a review of the medical literature.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Ruptura Aórtica
/
Palato
/
Ruptura
/
Úvula
/
Tecido Conjuntivo
/
Diagnóstico Precoce
/
Síndrome de Ehlers-Danlos
/
Síndrome de Loeys-Dietz
/
Hipertelorismo
/
Coreia (Geográfico)
Tipo de estudo:
Estudo diagnóstico
/
Estudo de rastreamento
Limite:
Feminino
/
Humanos
País/Região como assunto:
Ásia
Idioma:
Coreano
Revista:
The Korean Journal of Thoracic and Cardiovascular Surgery
Ano de publicação:
2009
Tipo de documento:
Artigo
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