Reference : Aneurysms of the abdominal aorta: familial and genetic aspects in three hundred thirt...
Scientific journals : Article
Human health sciences : Surgery
Aneurysms of the abdominal aorta: familial and genetic aspects in three hundred thirteen pedigrees.
VERLOES, Alain mailto [Centre Hospitalier Universitaire de Liège - CHU > > Génétique]
SakalihasanN, Natzi mailto [Centre Hospitalier Universitaire de Liège - CHU > > Chirurgie cardio-vasculaire]
Koulischer, Lucien [Université de Liège - ULiège > > Relations académiques et scientifiques (Médecine) >]
Limet, Raymond [Centre Hospitalier Universitaire de Liège - CHU > > Chirurgie cardio-vasculaire> > > >]
Journal of Vascular Surgery
Mosby Year Book
Yes (verified by ORBi)
St Louis
[en] Adult ; Age Factors ; Aged ; Aged, 80 and over ; Alleles ; Aortic Aneurysm, Abdominal/epidemiology/genetics/mortality ; Aortic Rupture/epidemiology/genetics ; Belgium/epidemiology ; Female ; Genes, Dominant/genetics ; Humans ; Male ; Middle Aged ; Nuclear Family ; Pedigree ; Probability ; Risk Factors ; Sex Factors ; Statistics as Topic ; Survival Rate
[en] PURPOSE: Familial clustering of abdominal aortic aneurysm was first noticed in 1977. METHODS: Through questionnaire and phone inquiry, familial data on 324 probands with abdominal aortic aneurysms allowed the establishment of 313 multigenerational pedigrees including 39 with multiple affected patients. RESULTS: There were 276 sporadic cases (264 men, 12 women); 81 cases belonged to multiplex pedigrees (76 men; 5 women). We compared familial and sporadic male cases; the ages at diagnosis were 64.1 +/- 7.9 years and 66.0 +/- 7.3 years (p < 0.05), respectively, the ages at rupture were 65.4 +/- 6.6 years and 75.2 +/- 8.6 years (p < 0.001), and the rupture rate was 32.4% and 8.7% (p < 0.001). Survival curves were computed. Relative risk for male siblings of a male patient was 18. We performed a segregation analysis with the mixed model, the most likely explanation for occurrence of abdominal aortic aneurysm in our families was a single gene effect showing dominant inheritance. The frequency of the morbid allele was 1:250, and its age-related penetrance was not higher than 0.4. CONCLUSION: This analysis indicates the preeminence of genetic factors on multifactorial/environmental effects of the pathogenesis of abdominal aortic aneurysm.

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