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Severe hypoplasia of the abdominal aorta and its branches in a patient and his daughter.

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Dejardin, A [UCL] Goffette, Pierre [UCL] Moulin, P. [UCL] Verhelst, Robert [UCL] Cornu, Guy [UCL] De Plaen, Jean-François [UCL] Persu, Alexandre [UCL]

We report the history of a patient and his daughter, both affected with hypoplasia of the abdominal aorta and its branches, leading to early and dramatic complications. In the index patient, renal ischaemia as a result of severe hypoplasia of the abdominal aorta and the origin of renal arteries led to progressive renal failure and end-stage renal disease at the age of 32 years. Other vascular abnormalities included hypoplasia of the celiac trunk (CT) and superior mesenteric artery (SMA). After a successful kidney transplantation at the age of 40 years, he eventually deceased following an episode of possibly ischaemic acute pancreatitis at 47 years. The patient's daughter suffered from an haemorrhagic stroke at the age of 7 years, which led to the discovery of severe hypertension caused by bilateral narrowing of renal arteries, as well as hypoplasia of CT, SMA, subclavian and pulmonary arteries. Biopsy of the narrowed renal artery of the daughter showed a particular form of fibrodysplasia characterized by an unusual fibrosis of the inner part of the media, just beneath the internal elastic lamina. To our knowledge, this is the first report of familial hypoplasia of the abdominal aorta. It might be the cardinal manifestation of a familial form of fibromuscular dysplasia (FMD). Interestingly, the histological lesions described in the daughter's renal artery differ from the classical form of medial FMD.

Document type Article de périodique (Journal article) – Article de recherche – Case Reports, Journal Article
Access type Accès restreint
Publication date 2004
Language Anglais
Journal information "Journal of internal medicine" - Vol. 255, no. 1, p. 130-6 (2004)
Peer reviewed yes
issn 0954-6820
Publication status Publié
Affiliations UCL - MD/RAIM - Département de radiologie et d'imagerie médicale
UCL - MD/CHIR - Département de chirurgie
UCL - (SLuc) Service de radiologie
UCL - MD/NOPS - Département de neurologie et de psychiatrie
UCL - MD/MINT - Département de médecine interne
MESH Subject Abnormalities, Multiple - radiography ; Adult ; Aorta, Abdominal - abnormalities - radiography ; Aortic Coarctation - etiology - radiography ; Child ; Family ; Fatal Outcome ; Female ; Fibromuscular Dysplasia - complications ; Humans ; Male ; Pedigree ; Renal Artery - pathology
Keywords Aortic hypoplasia ; Coarctation ; Fibromuscular dysplasia
Links
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Bibliographic reference Dejardin, A ; Goffette, Pierre ; Moulin, P. ; Verhelst, Robert ; Cornu, Guy ; et. al. Severe hypoplasia of the abdominal aorta and its branches in a patient and his daughter.. In: Journal of internal medicine, Vol. 255, no. 1, p. 130-6 (2004)
Permanent URL http://hdl.handle.net/2078.1/26711