Familial abdominal aortic aneurysm: a systematic review of a genetic background.
BACKGROUND
Familial clustering of the abdominal aortic aneurysm (AAA) is clear, 12-19% of AAA patients have one or more first-degree relatives with an aneurysm and 4-19% is detected with ultrasound screening.


OBJECTIVE
To review the genetic background of AAA. DESIGN, METHODS AND MATERIALS: Computer searches of the MEDLINE, EMBASE, SUMsearch database and the Cochrane Library and searched reference lists of English language articles concerning the genetics of AAA, candidate gene approach and linkage analysis.


RESULTS
Brothers of AAA patients are at high risk to develop an AAA. The candidate gene approach was performed to detect defects in one of the components of the connective tissue, i.e. type I and III collagen, elastin and fibrillin, the inflammatory cell-derived matrix metalloproteinase, there inhibitors, auto-immune components and components related to atherosclerosis.


CONCLUSIONS
These studies give us insight in the pathology but do not lead to the specific genetic factor(s) responsible for (familial) AAA. Considering the supposed autosomal dominant inheritance, a gene mutation in one of the structural proteins of the connective tissue is expected. In the future, linkage analysis may resolve the genetic background of AAA.
van Vlijmen-van Keulen
C J
CJ
Institute for Cardiovascular Research, Vrije Universiteit Medical Center, Amsterdam, The Netherlands.
Pals
G
G
Rauwerda
J A
JA
D017544:Aortic Aneurysm, Abdominal / Q000000981:diagnostic imaging / Q000235:genetics*; D016000:Cluster Analysis; D008040:Genetic Linkage / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D014463:Ultrasonography