Journal of Vascular Surgery
Volume 49, Issue 5 , Pages 1162-1165, May 2009

True abdominal aortic aneurysm in Marfan syndrome

  • Toshio Takayama, MD
    • ,
  • Tetsuro Miyata, MD

      Affiliations

    • Corresponding Author InformationReprint requests: Tetsuro Miyata, MD, Division of Vascular Surgery, Department of Surgery, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-8655 Japan
    • ,
  • Hirokazu Nagawa, MD

Division of Vascular Surgery, Department of Surgery, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan

Received 3 September 2008; accepted 2 December 2008. published online 23 March 2009.

Article Outline

Objectives

True abdominal aortic aneurysm (AAA) in patients with Marfan syndrome is relatively rare because most aortic aneurysms in this disease are dissecting aneurysms in the thoracic area. Therefore, its clinical characteristics and long-term outcome are still unclear.

Methods

We examined six patients (3 men, 3 women) with Marfan syndrome who had a true AAA. These patients underwent surgical treatment from 1972 to 2004, and we investigated the clinical and histologic findings.

Results

The patients were a median age of 45 years (range, 23-73 years) at the time of operation. The median maximum AAA diameter was 76 mm (range, 30-140 mm). Two AAAs ruptured, one of which had twice undergone stent graft insertion before open repair. There was one anastomotic aneurysm and three aortic dissections with additional repair. Marfan-related cardiac complications, all found perioperatively or postoperatively, comprised three patients with annuloaortic ectasia and four with aortic regurgitation. Three patients died, including one death during the operation. Only slight mural thrombus was seen at nonruptured AAAs, and each surgical specimen of aneurysmal wall demonstrated significant cystic medial necrosis in the tunica media.

Conclusions

True AAAs in Marfan syndrome seemed to have several specific features, such as the tendency to occur in relatively young patients, lack of mural thrombus, and susceptibility to dissection and rupture, and the patients have poor life expectancy. Therefore, careful follow-up, keeping these features in mind, is important to treat Marfan syndrome patients with a true AAA.

 

Marfan syndrome is a congenital disorder of connective tissue that is associated with various systemic complications in the skeleton,1 eyes,2 and cardiovascular system.3 It is inherited as an autosomal dominant condition, and the defective gene has been mapped to the fibrillin-1 (FBN1) gene on chromosome 15.4, 5, 6 Several resent studies have revealed that the second fibrillin gene, FBN2, is also concerned in the pathogenesis of this syndrome.4, 7 Mutations of these genes lead to defects in multiple organ systems; among these systemic complications, those of the cardiovascular system are the most critical because most deaths are due to aortic or mitral valve incompetence, aortic dissection, aneurysm rupture, mural complications of an ascending aortic aneurysm, or subacute bacterial endocarditis.8, 9

Aortic aneurysms in Marfan syndrome can be broad and multiple because of the congenital fragility of the aortic wall, which is known as cystic medial necrosis (CMN).10, 11 In addition, the aneurysms are usually the dissecting type and are often located in the thoracic region because the ascending aorta is subjected to continuous pressure changes.12 Therefore, true rather than dissecting abdominal aortic aneurysms (AAA) are so rare in patients with Marfan syndrome8, 13, 14, 15 that their precise characteristics and long-term outcome are still unknown. We reviewed our experience of true AAA in six patients with Marfan syndrome to reveal the details of each AAA and long-term follow-up results after each repair.

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Patients and methods 

We investigated the clinical findings of six patients (3 men and 3 women) with Marfan syndrome, with a true AAA, who underwent surgical treatment from 1972 to 2004. Every patient was diagnosed with Marfan syndrome at the first presentation of the AAA according to published guidelines,16, 17 basically according to the family history and physical examinations. No genetic examinations were performed. The patients were a median age of 45 years (range, 23-73 years) at the time of operation.

To investigate the clinical findings, we analyzed the profiles of patients during the perioperative period of AAA repair and long-term postoperative outcome, including survival, formation of anastomotic false aneurysms, and other Marfan-related cardiovascular complications such as aortic regurgitation (AR), annuloaortic ectasia (AAE), and aortic dissection. We performed histologic examination of each specimen obtained at operation.

Each patient had been monitored regularly in the outpatient clinic. Routine surveillance had been performed with echography, angiography, or computed tomography (CT) every 6 to 12 months since the late 1980s.

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Results 

The profiles of patients at the time of operation for AAA are summarized in Table I. Five of the six patients had a family history of Marfan syndrome. Two patients had symptoms or signs in the cardiovascular system, three in the musculoskeletal system, and one in ocular system. The median maximum diameter of AAA was 76 mm (range, 30-140 mm). Two patients presenting with rupture had an emergency operation. One died during the operation due to excessive bleeding. The other patient had undergone two previous stent graft insertions at another hospital at 39 months and 28 months before the rupture; in this patient, a tear from the stent graft caused the rupture.

Table I. Profiles of patients at operation for abdominal aortic aneurysma
PatientYear of operationAgeSexFamily historySymptoms, signsMax diameter, mmRuptureOperational death
1197229FDaughterAscending aorta dilation118NoNo
2197423MMother, sibling, son, daughterPectus excavatum, arachnodactyly30YesYes
3198239FDaughterPectus excavatum, arachnodactyly, wrist and thumb signs140NoNo
4198353FNoneAscending aorta dilation, pectus carinatum, Arachnodactyly80NoNo
5b200351MSonEctopia lentis72YesNo
6200473MSonAscending aorta dilation65NoNo

aEvery patient was diagnosed as having Marfan syndrome at the first presentation of the abdominal aortic aneurysm.

bThis patient had undergone endovascular aneurysm repair twice, at another hospital 39 months and 28 months, before our open operation.

Five patients who survived surgery were monitored for a median duration of 27 months (range, 3-1493 months) to investigate long-term results after AAA repair (Table II). Cardiovascular complications that emerged during the follow-up period consisted of AR, AAE, aortic dissection, and anastomotic aneurysm. Four patients (80%) had AR, two of which were diagnosed simultaneously at AAA repair. Three patients (60%) had AAE, two of which were diagnosed simultaneously at AAA repair. One patient with both AR and AAE underwent surgical repair of these problems during the surgical procedure for aortic dissection of DeBakey type I. The other patients with AR or AAE were conservatively treated with observation.

Table II. Long-term results after abdominal aortic aneurysm repair
PatientComplication (post-op month when diagnosed)aFollow-up, monFinal status
ARAAEAortic dissectionbAnastomotic aneurysm
1NoNoIIIb(56)Yesc58Diedd
3Yes(276)NoNoNo1493Alive
4Yes(0)Yes(0)IIIa(0)No3Diede
5Yes(8)Yes(8)I(8)No34Alive
6Yes(0)Yes(0)NoNo20Alive

AR, Aortic regurgitation; AAE, annuloaortic ectasia.

aThe (0) means that the complication and the abdominal aortic aneurysm were diagnosed simultaneously.

bAortic dissection is classified according to DeBakey's classification.

cThe anastomotic false aneurysm was diagnosed at the same time as aortic dissection.

dThe patient died from excessive bleeding during the operation for aortic dissection.

eThe patient died suddenly 3 months after the operation. The cause of death was unknown despite autopsy.

Three (60%) patients had aortic dissection. One had DeBakey IIIb type aortic dissection that occurred 56 months after the initial AAA repair, and graft replacement was performed. Another had DeBakey IIIa type aortic dissection that was repaired simultaneously with the AAA. The other patient had DeBakey type I aortic dissection that occurred 8 months after AAA repair, and an emergency Bentall operation and total arch replacement were performed. An anastomotic aneurysm developed in one patient (20%) at 56 months after the initial AAA repair. This was repaired simultaneously with surgical repair for DeBakey IIIb type aortic dissection.

Two deaths occurred during the follow-up period (Table II). The respective causes of death were perioperative bleeding relating to aortic dissection, and sudden death of unknown cause even after autopsy, 3 months after the operation. The overall postoperative mortality of 40% was remarkably high compared with that of non-Marfan patients with atherosclerotic AAAs, which was estimated to be 8% as surveyed from 422 patients treated between 1995 and 2005 in our department.

The clinicopathologic features of the aneurysmal wall (Table III) included mural thrombus in only two patients (33%), both of which were ruptured AAAs. Similarly, preoperative CT images typically demonstrated no mural thrombus in the AAA (Fig). Mural calcification was also observed in only two patients (33%), both of whom were older (51 and 73 years old). The histologic examination, however, revealed evidence of CMN in every patient.

Table III. Clinicopathologic features of aneurysmal wall
PatientMural thrombusMural calcificationCMN
1NoNoYes
2YesNoYes
3NoNoYes
4NoNoYes
5YesYesYes
6NoYesYes

CMN, Cystic medial necrosis.

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Discussion 

Niinami et al18 reported surgical procedures performed for 101 patients with Marfan syndrome. Only three patients (3%) had the initial surgical repair for aortic lesions involving the abdominal aorta, whereas 35 (35%) had aortic reconstruction involving the thoracic aorta. This result implies that it is relatively rare for patients with Marfan syndrome to have the initial aortic lesion in the abdominal aorta.18 In our current study, we described the precise characteristics and long-term outcome after surgical treatment for patients with Marfan syndrome, who had not a dissecting but a true AAA as the initial aortic lesion.

Our results indicated that AAA occurred in relatively young patients with Marfan syndrome. According to Hertzer et al,19 the mean age of patients who underwent AAA repair was 70 years, whereas it was 44.7 years in our series of patients with Marfan syndrome undergoing similar repairs. This seems to be the reason why our patients were not diagnosed until their AAA became symptomatic or very large. In addition, it seems that the AAA in a certain percentage of patients with Marfan syndrome tends to rupture, even if small. In our study, an AAA with a diameter of only 30 mm ruptured, resulting in death. The incidence of ruptured AAA in our series was also high, at 33%, whereas Hertzer et al reported a 6.5% incidence.19 Rupture is therefore a serious threat for Marfan patients with AAA because of the high mortality rate (50% in our study), and considering these facts, immediate operation might be indicated.20 Also high in our study was the incidence of aortic dissection, which was 50%, and mortality, which was 67%.

The reason why such a small aneurysm in a relatively young patient had ruptured or dissected might be the fragility of the aortic wall, especially in the tunica media due to CMN, which is one of common histologic findings in the arterial wall affected by Marfan syndrome.10, 11 Once CMN occurs in the aorta, it becomes very susceptible to shear stress from the blood stream, potentially resulting in early dissection or rupture. Indeed, CMN was observed in every aneurysmal wall in our series.

Another reason for the high postoperative mortality in our series compared with that of non-Marfan AAAs might be the high incidence of heart failure. A past reported series revealed that aortic dissection and heart failure resulting from severe aortic regurgitation are the main causes of death in patients with Marfan syndrome,8 indicating that a true AAA might be one of the initial manifestations of serial cardiovascular complications emerging in these patients.

One patient with rupture underwent stent graft insertion before open surgery. Despite the recent vast expansion of endovascular aneurysmal repair (EVAR) for atherosclerotic AAA, there is no established consensus on endovascular repair for Marfan-related AAA. In a study by Ince et al,21 among six patients with Marfan syndrome who had been treated with EVAR for dissection in the descending thoracic aorta, elective conversion to surgical repair was necessary in two patients (33%) at 22 and 43 months after the initial EVAR. Considering the present status, conventional graft replacement still seems to be the gold standard to treat true AAA in Marfan syndrome.

AAAs in Marfan syndrome have less mural thrombus than non-Marfan AAAs, which is a useful feature for diagnostic imaging. According to Ha et al,22 an AAA in patients with Marfan syndrome appears as a cystic or fusiform dilatation of the aorta on chest or abdominal CT scans. Compared with atherosclerotic aneurysms, the AAAs seen in Marfan syndrome also rarely show intimal calcification or atherosclerotic thrombosis, and they occur commonly and develop more rapidly in younger patients.22 Indeed in our study, none of the nonruptured AAAs had significant mural thrombus. Therefore, when an AAA without mural thrombus is seen in a relatively young patient, underlying Marfan syndrome should be suspected, even if the condition has not yet been diagnosed. In addition, regular aortic imaging with echocardiography and other imaging methods after repair allows elective repair of aortic problems common to patients with Marfan syndrome, because some authors have reported that surgical treatment is associated with a high risk of repeat dissection and recurrent aneurysm.23 These efforts have prolonged the life expectancy of patients with Marfan syndrome.8, 23, 24, 25, 26

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Conclusions 

Our small case series revealed several specific features of Marfan syndrome patients who had a true AAA as the first significant disorder, such as the tendency to occur in relatively young patients, lack of mural thrombus, susceptibility to dissection and rupture, and poor life expectancy. Because our study design was limited due to its small number of patients and long inclusion period (33 years), these features will certainly need to be clarified more in accordance with the future accumulation of information about this rare condition. Finally, careful follow-up to detect for possible cardiovascular complications, especially aortic dissection, is important for patients with a true AAA in Marfan syndrome.

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Author contributions 


Conception and design: TM

Analysis and interpretation: TT

Data collection: TT, TM

Writing the article: TT

Critical revision of the article: TM

Final approval of the article: HN

Statistical analysis: TT

Obtained funding: Not applicable

Overall responsibility: TM

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References 

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 Competition of interest: none.

PII: S0741-5214(08)02131-9

doi:10.1016/j.jvs.2008.12.007

Journal of Vascular Surgery
Volume 49, Issue 5 , Pages 1162-1165, May 2009

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