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100070 ABDOMINAL AORTIC ANEURYSM

Alternative titles; symbols

AAA
AORTIC ANEURYSM, ABDOMINAL
ANEURYSM, ABDOMINAL AORTIC
ARTERIOMEGALY, INCLUDED
ANEURYSMS, PERIPHERAL, INCLUDED


TABLE OF CONTENTS

Database Links

20 MEDLINE Citations 1 Protein Link

Note: pressing the Light Bulb symbol will find the citations in MEDLINE whose text most closely matches the text of the preceding OMIM paragraph, using the Entrez MEDLINE neighboring function.

TEXT

Tilson and Seashore (1984) reported 50 families in which abdominal aortic aneurysm had occurred in 2 or more first-degree relatives, mainly males. In 29 families, multiple sibs (up to 4) were affected; in 2 families, 3 generations were affected; and in 15 families, persons in 2 generations were affected. Three complex pedigrees were observed: one in which both parents and 3 sons were affected; one in which a man and his paternal uncle were affected; and one in which a man and his father and maternal great-uncle were affected. In the 'one-generation' families, there were 3 with only females affected, including a set of identical twins. The authors concluded that if a single gene is responsible, it is likely to be autosomal but that a multigenic mechanism cannot be excluded. Clifton (1977) reported 3 affected brothers. In North Carolina, Johnson et al. (1985) found that white males have a frequency of abdominal aortic aneurysm about 3 times that in black males, black females, or white females; all 3 of the latter groups had about comparable frequencies. Frequency was ascertained by a survey of autopsies and a survey of abdominal computed tomographic scans in subjects over the age of 50 years. Johansen and Koepsell (1986) compared the family histories of 250 patients with abdominal aortic aneurysm with those of 250 control subjects. Among the control subjects, 2.4% reported a first-degree relative with an aneurysm, compared with 19.2% of the patients with abdominal aortic aneurysm. This was taken to represent an estimated 11.6-fold increase in abdominal aortic aneurysm risk among persons with an affected first-degree relative. The authors suggested that noninvasive screening to detect early abdominal aortic aneurysm may be warranted in the relatives of affected persons. Borkett-Jones et al. (1988) brought to 4 the number of reported sets of identical twins concordant for abdominal aortic aneurysm. In a 9-year prospective study of 542 consecutive patients undergoing operation for abdominal aortic aneurysm, Darling et al. (1989) found that 82 (15.1%) had a first-degree relative with an aneurysm as compared to 9 (1.8%) of the control group of 500 patients of similar age and sex without aneurysmal disease. Patients with familial abdominal aortic aneurysm were more likely to be women (35% vs 14%), and men with familial abdominal aortic aneurysm tended to be about 5 years younger than the women. No significant difference was found between the patients with nonfamilial and familial abdominal aortic aneurysms in anatomic extent, multiplicity, associated occlusive disease, or blood type. The risk of rupture was strongly correlated with familial disease and the presence of a female member with aneurysm (63% vs 37%). Darling et al. (1989) suggested the term 'black widow syndrome' because of the grim significance of the presence of an affected female in the family. Abdominal aortic aneurysm is, of course, a common disorder; by ultrasound screening, Collin et al. (1988) found an abdominal aortic aneurysm in 5.4% of men aged 65 to 74, and in 2.3% of men in this age group the aneurysm was 4 cm or more in diameter. On the basis of a study of first-degree relatives of 91 probands, Majumder et al. (1991) rejected the nongenetic model and concluded that the most parsimonious genetic model was that susceptibility to abdominal aortic aneurysm is determined by a recessive gene at an autosomal diallelic major locus. Loosemore et al. (1988) described 2 brothers with abdominal aortic aneurysm at ages 58 and 62 years, whose father died of ruptured abdominal aortic aneurysm at the age of 72 years. Four other sibs died of myocardial infarction at ages 47 to 61 years. Fitzgerald et al. (1995) assessed the incidence of abdominal aortic aneurysm (AAA) in the sibs of 120 patients known to have AAA. Twelve percent of the sibs were found to have an aneurysm, including 22% of male sibs but only 3% of female sibs. Male sibs with hypertension were more likely to have AAA. 30 MEDLINE Neighbors

Ward (1992) looked for association of dilated peripheral arteries with aortic aneurysmal disease by measuring the diameters of the common femoral, popliteal, brachial, common carotid, internal carotid, and external carotid arteries by color-flow duplex scan in 30 control subjects and 36 patients with aortic aneurysm matched for age, sex, smoking habits, and hypertension. Mean peripheral artery diameter was significantly greater in patients with aortic aneurysms than in controls at all measurement sites. Peripheral artery dilatation was identified at sites that are seldom, if ever, involved in atherosclerosis. Ward (1992) concluded that there is a generalized dilating diathesis in aortic aneurysmal disease that may be unrelated to atherosclerosis. 30 MEDLINE Neighbors

Loosemore et al. (1988) suggested that a deficiency of type III collagen might be the basis for the aneurysm formation. The proportion of type III collagen in forearm skin biopsies was cited as accurately reflective of the proportion in the aorta and was said to have been low in the brothers. Kontusaari et al. (1989) and Kontusaari et al. (1990) reported a mutation in the COL3A1 gene (120180.0004) that may be the cause of familial aortic aneurysms. See review of Kuivaniemi et al. (1991). Tromp et al. (1993) carried out detailed DNA sequencing of the triple-helical domain of type III procollagen on cDNA prepared from 54 patients with aortic aneurysms. In the case of 43 patients, at least 1 additional blood relative had aneurysms. The 43 males and 11 females originated from 50 different families and 5 different nationalities. Only one amino acid substitution likely to have functional significance, a gly136-to-arg mutation, was found (see 120180.0018). Results indicated that mutations in type III procollagen are the cause of only about 2% of aortic aneurysms. 30 MEDLINE Neighbors

As part of a review of abdominal aortic aneurysm as a multifactorial process, Henney (1993) reviewed family studies and the molecular genetics. In a review focused on surgical aspects, Ernst (1993) commented that 'there is little support for atherosclerosis as the unitary cause...several factors appear to have an important role, including familial clustering...' 10 MEDLINE Neighbors

Through questionnaire and telephone inquiries, Verloes et al. (1995) collected family data on 324 probands with abdominal aortic aneurysm and determined multigenerational pedigrees on 313 families, including 39 with multiple affected patients. There were 276 sporadic cases (264 men; 12 women); 81 cases belonged to multiplex pedigrees (76 men; 5 women). The familial male cases showed a significantly earlier age at rupture and a greater rupture rate as compared with sporadic male cases, as well as a tendency (p less than 0.05) towards earlier age of diagnosis. Relative risk for male sibs of a male patient was 18. Segregation analysis with the mixed model gave single gene effect with dominant inheritance as the most likely explanation for the familial occurrence. The frequency of the morbid allele was 1:250, and its age-related penetrance was not higher than 0.4. 30 MEDLINE Neighbors

Baird et al. (1995) collected information from 126 probands with abdominal aortic aneurysm and 100 controls (cataract surgery patients) concerning AAA. Of 427 sibs of probands, 19 (4.4%) had probable or definite AAA, compared with 5 (1.1%) of 451 sibs of controls. The lifetime cumulative risks of AAA at age 83 were 11.7% and 7.5%, respectively. The risk of AAA began at an earlier age and increased more rapidly for probands' sibs than for controls' sibs. The risk comparison, based on the results of ultrasound screening of 54 geographically accessible sibs probands and the 100 controls, showed a similar pattern. AAA was found on ultrasound in 10 sibs of probands, or 19%, compared to 8% of controls. 30 MEDLINE Neighbors

AAA occurs among approximately 1.5% of the male population older than 50 years of age. Several studies have indicated an increased frequency among first-degree relatives of patients with AAA. Aneurysms of the peripheral arteries (femoral, popliteal, and isolated iliac) are less common than aortic aneurysms (Lawrence et al., 1995), and arteriomegaly (diffuse aneurysmal disease) is even less common (Hollier et al., 1983). Peripheral aneurysms and arteriomegaly carry a high risk for complications such as rupture, embolism, or thrombosis. Lawrence et al. (1998) constructed pedigrees for first-degree relatives of 140 patients who received the diagnosis of peripheral arterial aneurysm, arteriomegaly, or AAA from 1988 through 1996 in Salt Lake City, Utah. Patients with peripheral arterial aneurysm (n = 40) had a 10% (4 of 40) familial incidence rate of an aneurysm, patients with AAA (n = 86) had a 22% (19 of 86) familial incidence rate, and patients with arteriomegaly (n = 14) had a 36% (5 of 14) familial incidence rate. AAA was the aneurysm diagnosed most commonly among first-degree relatives (86%; 24 of 28). Most aneurysms (85%) occurred among men. Lawrence et al. (1998) suggested that relatives of patients with AAA, peripheral arterial aneurysm, or arteriomegaly may be screened by means of a physical examination for peripheral aneurysmal disease. Screening by means of ultrasound examination of the aorta should be limited to first-degree relatives of patients with aortic aneurysms or arteriomegaly. 30 MEDLINE Neighbors


SEE ALSO

Gatalica et al. (1992) ; Norrgard et al. (1985) ; Norrgard et al. (1984)


REFERENCES

1. Baird, P. A.; Sadovnick, A. D.; Yee, I. M. L.; Cole, C. W.; Cole, L. :
Sibling risks of abdominal aortic aneurysm. Lancet 346: 601-604, 1995.
PubMed ID : 7651004

2. Borkett-Jones, H. J.; Stewart, G.; Chilvers, A. S. :
Abdominal aortic aneurysms in identical twins. J. Roy. Soc. Med. 81: 471-472, 1988.

3. Clifton, M. A. :
Familial abdominal aortic aneurysms. Brit. J. Surg. 64: 765-766, 1977.
PubMed ID : 588966

4. Collin, J.; Araujo, L.; Walton, J.; Lindsell, D. :
Oxford screening programme for abdominal aortic aneurysm in men aged 65 to 74 years. Lancet II: 613-615, 1988.
PubMed ID : 2900988

5. Darling, R. C., III; Brewster, D. C.; Darling, R. C.; LaMuraglia, G. M.; Moncure, A. C.; Cambria, R. P.; Abbott, W. M. :
Are familial abdominal aortic aneurysms different? J. Vasc. Surg. 10: 39-43, 1989.
PubMed ID : 2787414

6. Ernst, C. B. :
Abdominal aortic aneurysm. New Eng. J. Med. 328: 1167-1172, 1993.
PubMed ID : 8455684

7. Fitzgerald, P.; Ramsbottom, D.; Burke, P.; Grace, P.; McAnen, O.; Croke, D. T.; Collins, P.; Johnson, A.; Bouchier-Hayes, D. :
Abdominal aortic aneurysm in the Irish population. Brit. J. Surg. 82: 483-486, 1995.
PubMed ID : 7613891

8. Gatalica, Z.; Gibas, Z.; Martinez-Hernandez, A. :
Dissecting aortic aneurysm as a complication of generalized fibromuscular dysplasia. Hum. Path. 23: 586-588, 1992.
PubMed ID : 1568754

9. Henney, A. M. :
Abdominal aortic aneurysm: molecular genetics. Lancet 341: 216-217, 1993.

10. Hollier, L. H.; Stanson, A. W.; Gloviczki, P.; Pairolero, P. C.; Joyce, J. W.; Bernatz, P. E.; Cherry, K. J. :
Arteriomegaly: classification and morbid implications of diffuse aneurysmal disease. Surgery 93: 700-708, 1983.
PubMed ID : 6845177

11. Johansen, K.; Koepsell, T. :
Familial tendency for abdominal aortic aneurysms. J.A.M.A. 256: 1934-1936, 1986.
PubMed ID : 3761500

12. Johnson, G., Jr.; Avery, A.; McDougal, E. G.; Burnham, S. J.; Keagy, B. A. :
Aneurysms of the abdominal aorta: incidence in blacks and whites in North Carolina. Arch. Surg. 120: 1138-1140, 1985.
PubMed ID : 4038055

13. Kontusaari, S.; Kuivaniemi, H.; Tromp, G.; Grimwood, R.; Prockop, D. J. :
A single base mutation in the type III procollagen gene (COL3A1) on chromosome 2q that causes familial aneurysms. (Abstract) Cytogenet. Cell Genet. 51: 1024-1025, 1989.

14. Kontusaari, S.; Tromp, G.; Kuivaniemi, H.; Romanic, A. M.; Prockop, D. J. :
A mutation in the gene for type III procollagen (COL3A1) in a family with aortic aneurysms. J. Clin. Invest. 86: 1465-1473, 1990.
PubMed ID : 2243125

15. Kuivaniemi, H.; Tromp, G.; Prockop, D. J. :
Genetic causes of aortic aneurysms: unlearning at least part of what the textbooks say. J. Clin. Invest. 88: 1441-1444, 1991.
PubMed ID : 1939638

16. Lawrence, P. F.; Lorenzo-Rivero, S.; Lyon, J. L. :
The incidence of iliac, femoral, and popliteal artery aneurysms in hospitalized patients. J. Vasc. Surg. 22: 409-415, 1995.
PubMed ID : 7563401

17. Lawrence, P. F.; Wallis, C.; Dobrin, P. B.; Bhirangi, K.; Gugliuzza, N.; Galt, S.; Kraiss, L. :
Peripheral aneurysms and arteriomegaly: is there a familial pattern? J. Vasc. Surg. 28: 599-605, 1998.
PubMed ID : 9786252

18. Loosemore, T. M.; Child, A. H.; Dormandy, J. A. :
Familial abdominal aortic aneurysms. J. Roy. Soc. Med. 81: 472-473, 1988.

19. Majumder, P. P.; St. Jean, P. L.; Ferrell, R. E.; Webster, M. W.; Steed, D. L. :
On the inheritance of abdominal aortic aneurysm. Am. J. Hum. Genet. 48: 164-170, 1991.
PubMed ID : 1985458

20. Norrgard, O.; Angquist, K.-A.; Johnson, O. :
Familial aortic aneurysms: serum concentrations of triglyceride, cholesterol, HDL-cholesterol and (VLDL + LDL)-cholesterol. Brit. J. Surg. 72: 113-116, 1985.
PubMed ID : 3855680

21. Norrgard, O.; Rais, O.; Angquist, K. A. :
Familial occurrence of abdominal aortic aneurysms. Surgery 95: 650-656, 1984.
PubMed ID : 6729702

22. Tilson, M. D.; Seashore, M. R. :
Fifty families with abdominal aortic aneurysms in two or more first-order relatives. Am. J. Surg. 147: 551-553, 1984.
PubMed ID : 6538765

23. Tromp, G.; Wu, Y.; Prockop, D. J.; Madhatheri, S. L.; Kleinert, C.; Earley, J. J.; Zhuang, J.; Norrgard, O.; Darling, R. C.; Abbott, W. M.; Cole, C. W.; Jaakkola, P.; Ryynanen, M.; Pearce, W. H.; Yao, J. S. T.; Majamaa, K.; Smullens, S. N.; Gatalica, Z.; Ferrell, R. E.; Jimenez, S. A.; Jackson, C. E.; Michels, V. V.; Kaye, M.; Kuivaniemi, H. :
Sequencing of cDNA from 50 unrelated patients reveals that mutations in the triple-helical domain of type III procollagen are an infrequent cause of aortic aneurysms. J. Clin. Invest. 91: 2539-2545, 1993.
PubMed ID : 8514866

24. Verloes, A.; Sakalihasan, N.; Koulischer, L.; Limet, R. :
Aneurysms of the abdominal aorta: familial and genetic aspects in three hundred thirteen pedigrees. J. Vas. Surg. 21: 646-655, 1995.

25. Ward, A. S. :
Aortic aneurysmal disease: a generalized dilating diathesis? Arch. Surg. 127: 990-991, 1992.
PubMed ID : 1642543


CLINICAL SYNOPSIS

View Clinical Synopsis Entry


CONTRIBUTORS

Victor A. McKusick - updated : 1/20/1999
Clair A. Francomano - updated : 5/12/1995


CREATION DATE

Victor A. McKusick : 6/4/1986


EDIT HISTORY

carol : 3/28/2000
mgross : 3/16/1999
carol : 1/29/1999
terry : 1/20/1999
carol : 12/28/1998
carol : 12/15/1998
terry : 11/11/1997
terry : 11/10/1997
alopez : 7/9/1997
mark : 10/2/1996
terry : 10/24/1995
mark : 7/11/1995
warfield : 4/6/1994
mimadm : 3/11/1994
carol : 7/13/1993