Familial aortic dissecting aneurysm

Détails

ID Serval
serval:BIB_4EEAB4C33D73
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Institution
Titre
Familial aortic dissecting aneurysm
Périodique
Journal of the American College of Cardiology
Auteur⸱e⸱s
Nicod  P., Bloor  C., Godfrey  M., Hollister  D., Pyeritz  R. E., Dittrich  H., Polikar  R., Peterson  K. L.
ISSN
0735-1097 (Print)
Statut éditorial
Publié
Date de publication
03/1989
Volume
13
Numéro
4
Pages
811-9
Notes
Case Reports
Journal Article --- Old month value: Mar 15
Résumé
A family is described in which nine members over two generations had an aortic dissecting aneurysm or aortic or arterial dilation at a young age. The family has been followed up since 1977 after the death of a second teenager from a kindred of 11. None of the patients had the Marfan syndrome or a history of systemic hypertension. Three members died of ruptured aortic dissecting aneurysm and acute hemopericardium at 14, 18 and 24 years of age, respectively; a fourth member died suddenly at age 48 years, a few years after aortic repair for aneurysmal dilation. One member underwent surgical repair of an ascending aortic dissecting aneurysm at age 18 years and is still alive. Four members are currently under close medical observation for aortic or arterial dilation. Histologic examination of the aortic wall at autopsy or surgery in three patients revealed a loss of elastic fibers, deposition of mucopolysaccharide-like material in the media and cystic medial changes. Types I and III collagen from cultured fibroblasts appeared normal on gel electrophoresis. Results of indirect immunofluorescent studies of the elastin-associated microfibrillar fiber array in skin and fibroblast culture from multiple family members were also normal. This dramatic familial cluster of aortic dissecting aneurysm and aortic or arterial dilation suggests a genetically determined disease of autosomal dominant inheritance although the basic defect remains unknown.
Mots-clé
Adolescent Adult Aneurysm, Dissecting/*genetics/pathology Aorta/pathology Aortic Aneurysm/*genetics/pathology Collagen/ultrastructure Elastic Tissue/pathology Female Fluorescent Antibody Technique Genes, Dominant Humans Male Middle Aged Muscle, Smooth, Vascular/ultrastructure Pedigree Skin/metabolism
Pubmed
Web of science
Open Access
Oui
Création de la notice
25/01/2008 14:00
Dernière modification de la notice
20/08/2019 14:04
Données d'usage