Familial aortic dissecting aneurysm

Pascal Nicod, Colin Bloor, Maurice Godfrey, David Hollister, Reed E. Pyeritz, Howard Dittrich, Ralf Polikar, Kirk L. Peterson

Research output: Contribution to journalArticle

72 Citations (Scopus)

Abstract

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.

Original languageEnglish (US)
Pages (from-to)811-819
Number of pages9
JournalJournal of the American College of Cardiology
Volume13
Issue number4
DOIs
StatePublished - Mar 15 1989

Fingerprint

Dissecting Aneurysm
Aortic Aneurysm
Dilatation
Fibroblasts
Aortic Rupture
Marfan Syndrome
Collagen Type III
Elastic Tissue
Pericardial Effusion
Elastin
Collagen Type I
Glycosaminoglycans
Electrophoresis
Autopsy
Gels
Observation
Hypertension
Skin
Familial Thoracic 1 Aortic Aneurysm

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

Cite this

Nicod, P., Bloor, C., Godfrey, M., Hollister, D., Pyeritz, R. E., Dittrich, H., ... Peterson, K. L. (1989). Familial aortic dissecting aneurysm. Journal of the American College of Cardiology, 13(4), 811-819. https://doi.org/10.1016/0735-1097(89)90221-0

Familial aortic dissecting aneurysm. / Nicod, Pascal; Bloor, Colin; Godfrey, Maurice; Hollister, David; Pyeritz, Reed E.; Dittrich, Howard; Polikar, Ralf; Peterson, Kirk L.

In: Journal of the American College of Cardiology, Vol. 13, No. 4, 15.03.1989, p. 811-819.

Research output: Contribution to journalArticle

Nicod, P, Bloor, C, Godfrey, M, Hollister, D, Pyeritz, RE, Dittrich, H, Polikar, R & Peterson, KL 1989, 'Familial aortic dissecting aneurysm', Journal of the American College of Cardiology, vol. 13, no. 4, pp. 811-819. https://doi.org/10.1016/0735-1097(89)90221-0
Nicod P, Bloor C, Godfrey M, Hollister D, Pyeritz RE, Dittrich H et al. Familial aortic dissecting aneurysm. Journal of the American College of Cardiology. 1989 Mar 15;13(4):811-819. https://doi.org/10.1016/0735-1097(89)90221-0
Nicod, Pascal ; Bloor, Colin ; Godfrey, Maurice ; Hollister, David ; Pyeritz, Reed E. ; Dittrich, Howard ; Polikar, Ralf ; Peterson, Kirk L. / Familial aortic dissecting aneurysm. In: Journal of the American College of Cardiology. 1989 ; Vol. 13, No. 4. pp. 811-819.
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