2013, Number 04
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MediSan 2013; 17 (04)
Abdominal aortic iliac aneurysms and Loeys-Dietz syndrome
Ortiz LD, Sánchez GD, Chércoles CL
Language: Spanish
References: 9
Page: 732-737
PDF size: 105.91 Kb.
ABSTRACT
The case report of a 29 year-old patient, with a history of aortic ectasia who had been
studied when she was 18 years through cineangiography is presented and a fusiform
aneurysm of the infrarrenal abdominal aorta and of the left primitive iliac artery, of
unspecific cause was found, which were substituted with left aortofemoral bypass. Later
on, in 2012, she presented pain and increase of the volume in the left inguinal region,
reason why she was assisted in the emergency room of "Saturnino Lora Torres" Teaching
Provincial Clinical Surgical Hospital in Santiago de Cuba, and evaluated by specialists of
the Angiology and Vascular Surgery Service, which determined to treat her with an
emergency surgery, when observing an anastomotic aneurysm of the left femoral artery
of fungal cause, and the characteristics: craneosinostosis, bifid uvula and cleft palate;
characteristic of Loeys Dietz syndrome.
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Loeys BL, Dietz HC. Loeys-Dietz Syndrome. En: Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP. Gene Reviews. Seattle: University of Washington; 1993.
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Singh KK, Rommel K, Mishra A, Karck M, Haverich A, Schmidtke J, et al. TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome. Hum Mutat. 2006; 27(8): 770-77.
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Akutsu K, Morisaki H, Takeshita S, Sakamoto SH, Tamori Y, Yoshimuta T, et al. Phenotypic heterogeneity of Marfan-like connective tissue disorders associated with mutations in the transforming growth factor-receptor genes. Circ J. 2007; 71(8): 1305–09.
Spin JM. Gene mutations and familial thoracic aortic aneurysms: a walk on the mild side. Circ Cardiovasc Genet. 2011; 4(1): 4-6.