Rare locations of peripheral aneurysms in Marfan syndrome treated surgically: a case report

Abstract

Marfan syndrome (MFS) is a connective tissue disorder that can lead to cardiovascular and musculoskeletal abnormalities. Aortic aneurysms and dissections are frequently seen in patients with MFS whereas peripheral vascular aneurysms in subclavian and axillary arteries territory considered very unusual. We reported a case of 54-year-old female with known history of MFS who had undergone a mechanical valve Bentall procedure due to severe aortic regurgitation and ascending aorta aneurysm in addition to thoracoabdominal aortic repair and who presented with a pulsatile painful mass in her right axillary region that turn to be significant true aneurysms of right subclavian and axillary arteries. To relive symptoms and to avoid further complications patient underwent successful surgical repair. Our case demonstrated rare locations of true peripheral aneurysms as a possible manifestation of MFS appeared several years post Bentall procedure and thoracoabdominal aortic repair and highlights also the importance of long-term monitoring to detect earlier such manifestation and avoid complications by surgical repair.

Introduction

Marfan syndrome (MFS) is an autosomal dominant disease of connective tissue that poses high penetrance and variable expression with incidence of 2–3 per 10,000 individuals and caused mostly by mutation in the gene encoding fibrillin-1. Clinically MFS manifesting by affecting several organ systems including skeleton, eyes, heart, lung and blood vessels [1–4]. Among numerous manifestations of MFS, cardiovascular abnormalities are considered as the most prevalent complications and account for 90% of death in these patients [5, 6]. While Aneurysms and dissections of the aorta are prevalent complications of this condition, peripheral aneurysms are less common in patients with MFS. In one study, a distal/peripheral arterial aneurysms were found in approximately one-third of adults with MFS. In the same study between 44 cases of distal or peripheral aneurysms 4 cases were an aneurysm of subclavian artery [7]. From a cohort of 187 patients with MFS, aortic branch aneurysms were identified in 50 (27%) patients. A total of 104 aneurysms were identified, and 62% of patients with aneurysms had more than one identified [8]. Peripheral aneurysms can develop in iliac, femoral, and internal carotid arteries while subclavian and axillary arteries aneurysms are rarely reported [9, 10]. This case showed a successful vascular repair of symptomatic significant multiple true aneurysms in unusual locations of MFS patient that manifested as a huge pulsatile mass.

Case description

A 54-year-old woman with documented history of MFS presented to our center complaining of pulsating mass in right axillary area and inner part of the right arm for the past 6 months. She reported pain in this area which was started 7 days prior to her visit. This patient has a past medical history of Bentall surgery with a mechanical valve for severe aortic regurgitation and an ascending aortic aneurysm in 2009 and thoracoabdominal aortic repair following a thoracic aortic dissection in 2015. Her Bentall procedure was conducted utilizing femoral artery cannulation method.

On examination she had classical external feature of MFS, including being tall and thin with long upper and lower limbs. Her cardiovascular examination showed normal first heart sound and metallic click. The examination of right axillary area and arm revealed a pulsating mass of significant size. Blood pressure of left upper limb was 110/60 mmHg while right radial pulse was palpably weaker compared to the left side. A localized ultrasound examination revealed an aneurysmal formation in the territory of the distal part of right subclavian artery with maximum diameter of 3.2 cm (Fig. 1). A saccular shape dilatation in the axillary artery with maximum diameter of 5.5 cm was found in both longitudinal and cross section suggestive of right axillary artery aneurysm (Fig. 1). Contrast-enhanced computed tomography revealed a tortuous part in proximal segment of right subclavian artery as well as an aneurysm in the distal segment of the subclavian artery extending to the axillary artery which showed complete aneurysmal formation. No stenosis or dilation was detected in the brachial artery (Fig. 2).

Fig. 1.

(a): Transverse view of subclavian artery aneurysmal formation. (b): long axis view of right axillary artery aneurysm. (c): short axis view of right axillary artery aneurysm

Fig. 2.

(a): contrast-enhanced computed tomogram of the chest shows an aneurysm in the right subclavian artery (red arrow). RSCA = right subclavian artery. (b): Three-dimensional computed tomogram shows consecutive aneurysmal enlargements of the right subclavian and axillary arteries. BCT = brachiocephalic trunk; RSCA = right subclavian artery; RAA = right axillary artery

After 2 days of admission, 9 days after the onset of pain, the patient’s INR levels reached the suitable range for surgical intervention. The corrective surgery was then performed to avoid a devastating complication such as rupture aneurysm of the patient. A multidisciplinary team, including endovascular surgeons and interventional specialists, evaluated her condition to choose the optimal treatment approach. Due to the excessive aneurysmal dilation and tortuosity observed in the CT angiography images, the team decided to decline endovascular approach and to proceed with surgical approach. Therefore, open surgery was conducted as the most appropriate intervention.

Under general anesthesia the patient placed in a supine position, with the shoulder slightly elevated and the arm in a horizontal position, forming a 90° angle with the body. To expose and identify the affected arteries, Infraclavicular and deltopectoral incisions were used for aneurysmal resection. The skin incision was extended from the middle of the clavicle to the anterior axillary line in the direction of the apex. The pectoralis muscle was divided along its fibers, and the pectoralis minor muscle was transected. The aneurysm was located anteriorly to brachial plexus. There was no adhesion to the plexus observed.

Subclavian artery aneurysm found and the segments proximal and distal to the aneurysm were explored first. The aneurysm was resected subsequent to clamping of the proximal and distal arterial segments after the intravenous injection of 5,000 IU of heparin. After aneurysmectomy (Fig. 3), a polytetrafluoroethylene (ePTFE) graft (JOTEC GmbH- Germany, Diameter 7 mm Length = 12 cm) was interposed. The specimens from the aneurysmal wall were sent for histopathologic examination.

Fig. 3.

(a) and (b): The specimnen of resected area of multiple aneurysms. (c): demonstrates subclavian incision with extension to the axillary region and arm, after removal of aneurysmal part of artery and performing end-to-end anastomosis. The arrow represents Gore-Tex tube graft

Following the procedure all the distal pulses were present with good volume in the patient’s right arm. The postoperative period was smooth without significant events and there was no evidence of neuropraxia. The patient discharged in good condition. At the follow-up appointment 2 weeks after discharge in outpatient clinic, the patient was in a good health with no symptoms.

Discussion

Aneurysm and dissection of aorta is a common complication seen in patient with MFS, however, the formation of peripheral aneurysms, particularly within the subclavian and axillary arteries have been rarely reported. Peripheral aneurysms are either asymptomatic or manifest with symptoms like pain, swelling or pulsation. Nevertheless, these aneurysms can lead to serious complication including rupture, thrombosis or embolism with subsequent increasing morbidity and mortality [9]. Taking in consideration the possible serious complications of subclavian and axillary arteries aneurysms, regardless of the size all symptomatic aneurysms should be treated [9].

As reoperation incidence for aneurysm and dissection is significant, Long-term follow-up of patients with MFS is crucial. Regular screening utilizing Computed Tomography (CT) scan or magnetic resonance imaging (MRI) in the first 6 months after treatment is recommended. The interval could be lengthened to once a year if no complications were detected [9, 11].

Treatment options for subclavian and axillary aneurysms encompass open surgical repair, endovascular stenting, or a combination of both, depending on the size, location, and overall patient’s health status. Surgical strategies for treating subclavian and axillary arteries aneurysms include resection with end-to-end anastomosis. Endovascular intervention is not encouraged in patients with MFS due to vessel wall weakness and poor stent stability. Open surgery has been chosen as the most frequent choice for aneurysms found in all locations of the extremities among patients with MFS [12]. In this case, the patient was admitted due to multiple aneurysms in the subclavian and axillary arteries. Due to the excessive tortuosity of artery and aneurysmal dilation, the medical team supposed that the endovascular approach was not appropriate, and open surgery was chosen to avoid further complications [13]. Therefore, after aneurysmectomy, a ePTFE vascular graft was interposed.

There are limited studies on treating subclavian and axillary arteries aneurysms, however, our approach in this case corroborates with previous case reports, as Dolapoglu et al. reported a patient with multiple subclavian and axillary aneurysms who was successfully treated with surgical repair using a Dacron graft. In another study, Morisaki et al. described a patient with an aneurysm in subclavian artery which was fully resected and replaced with a synthetic graft. Nawa et al. presented a case with a true aneurysm of axillary-subclavian artery with cystic medio-necrosis that was treated with interposition of a prosthetic vascular graft and reconstructed axillary-subclavian artery [14, 15]. Our study provides an additional support to the importance of close monitoring and regular screening of peripheral arteries which can be helpful in patients with MFS.

Conclusion

Peripheral aneurysms are one of the remarkable complications in patients with MFS. Early diagnosis and prompt surgical intervention are crucial to improve the outcome and prevent further complications. In this case, the patient had successful corrective surgery without any complications. Clinicians are recommended to be aware of the possibility of peripheral aneurysms in patients with MFS and consider appropriate screening and management strategies.

Author contributions

All authors have read and approved the manuscript. Data collection: LB, AA, OM, AHB, and NE; Drafting of the manuscript: NE, LB; Critical revision of the manuscript for important intellectual content: OM, AA, LB, and AHB.

Funding

This research did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors.

Data availability

The data of this study are available from the corresponding author upon reasonable request.

Declarations

Ethics approval and consent to participate

Not applicable.

Consent for publication

Written informed consent for publication of case report or identifying information/images in an online open-access publication was obtained from the patient.

Competing interests

The authors declare no competing interests.