2026 年 13 巻 p. 63-68
Marfan syndrome presents unique challenges for mechanical thrombectomy in acute ischemic stroke due to vascular fragility and complex aortic anatomy, often from prior surgeries. We describe the case of a man in his 50s with Marfan syndrome, total aortic arch replacement, mechanical valve replacement, and extensive chronic dissections, who presented with acute ischemic stroke due to right internal carotid artery occlusion. Conventional transfemoral access failed due to anomalous prosthetic brachiocephalic artery graft anatomy. Consequently, mechanical thrombectomy was performed via direct surgical exposure and puncture of the right common carotid artery. Despite initial avoidance of a stent retriever due to Marfan syndrome-related vessel fragility, an stent retriever was ultimately used in a combined technique with aspiration in the third pass, achieving partial recanalization (thrombolysis in cerebral infarction 2a) and retrieval of a fibrin-rich thrombus. This case highlights direct carotid access as a feasible alternative in Marfan syndrome patients with prohibitive conventional access and suggests stent retrievers can be used cautiously.
Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder characterized by systemic fragility of connective tissues. The vessels in MFS patients are stiff and non-distensible, but the degenerated medial layer is structurally weak and susceptible to dissection.1) Cardiovascular complications such as valvular disease, aortic aneurysm, and dissection, often necessitating surgical repairs, are frequently observed in MFS patients.2) Since these conditions can be potential causes of acute ischemic stroke (AIS), reports of AIS occurring in patients with MFS are not uncommon.3) However, mechanical thrombectomy (MT) for AIS in MFS patients remains scarce.4)
Herein, we present the first reported case of MT via direct surgical carotid exposure performed in a patient with MFS. The patient's history was also notable for chronic aortic dissection and multiple aortic and valvular surgeries, including prosthetic brachiocephalic artery (BCA) replacement. Due to this anatomical complexity, conventional transfemoral (TF) access failed, necessitating the direct surgical exposure and puncture of the right common carotid artery (CCA) for MT. We discuss treatment strategies, including endovascular access routes and recanalization techniques, in this challenging scenario.
The patient was a man in his 50s with a history of MFS, status post total arch replacement and mechanical valve replacement, receiving warfarin therapy. He also had chronic aortic dissections with a patent false lumen involving the brachiocephalic artery (BCA), bilateral subclavian arteries (ScA), abdominal aorta, and left common iliac artery. The patient, with a pre-stroke modified Rankin Scale (mRS) score of 0, presented with sudden-onset left hemiparesis and aphasia within 1 hour of symptom onset. The National Institutes of Health Stroke Scale (NIHSS) score was 14. The prothrombin time-international normalized ratio (PT-INR) was 2.96. Non-contrast computed tomography (CT) showed a hyperdense vessel sign at the terminus of the right internal carotid artery (ICA) (Fig. 1A), with an Alberta Stroke Program Early CT Score (ASPECTS) of 8. CT angiography revealed multiple aortic dissections, an anomalous origin and severe tortuosity of the prosthetic BCA graft, and right ICA occlusion (Fig. 1B and C).
Preoperative imaging of the patient with Marfan syndrome.
(A) Non-contrast CT shows the hyperdense vessel sign at the terminus of the right ICA. (B, C) CT angiography revealed chronic dissection on the left subclavian artery, an anomalous origin and severe tortuosity of the prosthetic brachiocephalic artery graft, and occlusion of the right ICA.
CT: computed tomography; ICA: internal carotid artery
The patient's medical history was from other institutions, precluding comparison with prior imaging. Consequently, an acute component of the arterial dissections could not be definitively excluded, and administration of recombinant tissue plasminogen activator was withheld. The patient presented with a hyperacute large vessel occlusion and severe neurological deficits, strongly indicating the need for MT.
Although the risks of endovascular therapy were presumed to be higher than in typical patients due to the vascular fragility associated with MFS, the presence of this underlying disease is not an absolute contraindication. Given the devastating prognosis without intervention, the decision was made to proceed with thrombectomy with extreme caution.
Due to the complex vascular anatomy involving chronic dissection and multiple prosthetic grafts, conventional access routes were considered challenging. Specifically, the sharply angulated junction of the right subclavian and common carotid arteries was anticipated to preclude both transbrachial (TB) and transradial (TR) approaches. Furthermore, with no previously reported cases, the feasibility of a direct carotid approach in this patient population was unknown. Therefore, we initially attempted the TF approach.
An 8-Fr sheath was carefully inserted into the right femoral artery (door-to-puncture time was 57 minutes). An 8-Fr balloon guide catheter (BGC) was advanced to the ascending aorta with repeated angiography to confirm intraluminal placement. Although a 0.035-inch guidewire reached the right external carotid artery, a 6-Fr inner catheter failed to advance into the prosthetic BCA (Fig. 2A). Therefore, the procedure was converted to direct carotid exposure.
Intraoperative angiography and procedural steps.
(A) Angiogram via the transfemoral approach, demonstrating the 6-Fr inner catheter failing to advance into the prosthetic brachiocephalic artery graft. (B) Angiogram following direct CCA puncture, showing a minor, non-worsening dissection of the posterior CCA wall (arrow). (C) A 7-Fr balloon guiding catheter advanced into the internal carotid artery via direct carotid access. (D) Initial angiography confirming a T-occlusion of the right internal carotid artery. (E) Deployment of the stent retriever (EmboTrap 5 mm/22 mm; CERENOVUS). (F) Final angiogram showing partial recanalization (TICI 2a) after thrombectomy using combined technique of aspiration and stent retriever.
CCA: common carotid artery
After preparing surgical instruments, we commenced surgical exposure under local anesthesia and sedation (58 minutes after femoral puncture). A 4-cm horizontal skin incision was made at the level of the carotid bifurcation, approximately midway between the mastoid tip and the sternal notch, along the anterior border of the sternocleidomastoid muscle. The platysma was divided, and the carotid sheath was exposed by blunt dissection along the anterior border of the sternocleidomastoid muscle. After dissecting the carotid sheath, the right CCA was exposed, secured with vessel loops, and punctured under direct vision. A 7-Fr short sheath cannulation caused a minor, non-worsening dissection of the posterior CCA wall (Fig. 2B), which required careful sheath repositioning (38 minutes after skin incision). A 7-Fr BGC was advanced to the ICA (Fig. 2C). Initial angiography revealed a T-occlusion of the ICA (Fig. 2D). The first pass, using a direct aspiration technique with a 5-Fr Sofia aspiration catheter (Terumo), achieved A1 reperfusion. A second attempt using the same technique at the M1 was unsuccessful. Initially, the use of a stent retriever (SR) was avoided due to concerns regarding vessel fragility in MFS; however, following 2 unsuccessful aspiration attempts, SR deployment was ultimately deemed necessary. The third pass, using a combined technique of aspiration and an SR (EmboTrap 5 mm/22 mm; CERENOVUS) (Fig. 2E), yielded a firm, white thrombus and improved M1 perforator flow (Fig. 2F). Despite achieving only partial recanalization of thrombolysis in cerebral infarction (TICI) 2a, further attempts were aborted due to the total procedural time of approximately 3 hours from the femoral puncture.
Tracheal intubation was performed to prevent postoperative airway compromise. Following sheath removal, hemostasis was achieved with manual compression, reinforced with a single suture at the arterial puncture site. The wound was closed in layers with a Penrose drain placement. The patient was extubated on postoperative day 3 without any puncture site-related complications, and anticoagulation was restarted. Histopathology revealed a fibrin-rich thrombus, suggesting an origin from the prosthetic valve. Despite salvage of the anterior cerebral artery territory, an extensive middle cerebral artery infarction resulted in severe left hemiparesis. The patient was transferred for rehabilitation with a modified Rankin Scale of 4.
A retrospective study revealed that the incidence of AIS in MFS patients was 3%.5) Many MFS patients have undergone aortic root replacement or mitral valve replacement. Even without this surgical history, MFS patients have a high incidence of mitral valve prolapse and subsequent atrial fibrillation. Consequently, this patient population is highly susceptible to cardiogenic embolism. Recent reports suggest that cardiogenic embolism is the most common cause of AIS in MFS patients, followed by arterial dissection.6)
To our knowledge, including the present case, only 4 cases of MT for AIS in MFS patients have been reported in English literature (Table 1).2,7,8) We discuss treatment strategies for AIS in MFS patients, focusing on vascular access and recanalization techniques.
Summary of Reported Cases of Mechanical Thrombectomy for Acute Ischemic Stroke in Patients With Marfan Syndrome
| Case | Authors, year | Age | Sex | Occlusion site | NIHSS | Chronic aortic dissection | Valve replacement | Aortic graft | IV tPA | MT access | MT devices (SR’s name and size) | TICI | Complication |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AAo: ascending aorta; AC: aspiration catheter; AoArch: aortic arch; BA: basilar artery; BCA: brachiocephalic artery; Bil.: bilateral; CCA: common carotid artery; DAo: descending aorta; ICA: internal carotid; IV tPA: intravenous tissue plasminogen activator; Lt.: left; MT: mechanical thrombectomy; NA: not available; NIHSS: National Institutes of Health Stroke Scale; Rt.: right; ScA: subclavian artery; SR: stent retriever; TICI: thrombolysis in cerebral infarction | |||||||||||||
| 1 | Reznik et al. 7), 2017 | NA | NA | Rt.M1 | 25 | AoArch, DAo | Mechanical Aortic | AAo, DAo | No | Trans Femoral | AC and SR (Solitaire NA) | 2b | None |
| 2 | Zhu et al. 8), 2022 | 18 | Male | BA | 20 | No | None | None | Yes | Trans Femoral | SR alone (Solitaire NA) | 3 | None |
| 3 | Shimizu et al. 2), 2023 | 58 | Female | Rt.M1 | 25 | No | Mitral | DAo | Yes | Trans Brachial | AC and SR (Solitaire 6 mm/41 mm) | 3 | None |
| 4 | Our case, 2025 | 52 | Male | Rt.ICA | 15 | BCA, Bil.ScA, DAo, Lt. CIA | Mechanical Aortic | Total Arch Replacement (AoArch, BCA, Bil.CCA), DAo | No | Direct Carotid Exposure | AC and SR (EmboTrap 5 mm/22 mm) | 2a | Minor CCA dissection |
In AIS, particularly in cases of large vessel occlusion (LVO), early initiation of intravenous thrombolysis or MT is essential. The presence of an underlying condition of collagen vascular disorders itself does not constitute a contraindication to these treatments. The fundamental principles of AIS management apply to patients with MFS, though the evidence base for this population is limited to case series and reports.
For intravenous thrombolysis, the primary concern is the high prevalence of aortic dissection. The American Heart Association/American Stroke Association (AHA/ASA) guideline contraindicates intravenous alteplase if acute aortic dissection is known or suspected, due to the risk of exacerbating the dissection or causing fatal hemorrhage.9) Thrombolysis has, however, been described in MFS patients with demonstrably chronic and stable dissections.10) Therefore, when dissection is identified but confidently determined to be chronic rather than acute, intravenous thrombolysis may still be considered a reasonable treatment option.
Regarding endovascular therapy, major guidelines about vascular surgery restrict endovascular therapy in MFS to high-risk surgical patients or salvage situations because their vascular fragility naturally raises concerns about the risk of iatrogenic vessel dissection or rupture.11,12) A report of the Society of NeuroInterventional Surgery Standards and Guidelines Committee describes that the potential benefits and risks of MT should be evaluated on a case-by-case basis in patients with collagen vascular diseases.13) Although endovascular neurointervention in patients with MFS is particularly challenging, not only because of their inherent vascular fragility, but also because they often present with pre-existing aortic dissection or have undergone previous prosthetic graft replacements, MT for LVO remains a life-saving intervention without alternative options for cerebral reperfusion.
Vascular accessTF approach has traditionally been the standard access route for MT. However, recent studies have reported the safety and efficacy of the TR approach, suggesting that the optimal route should be determined on a case-by-case basis.14) Furthermore, when these access routes are not feasible, the carotid approach has been reported as a useful alternative. A meta-analysis on carotid access reported a procedural success rate of 90% and successful recanalization in 76% of patients. Though cervical complications occurred at a rate of 26.5%, only 1.3% were fatal, and 96% of complications required no intervention.15)
A review of MT in patients with aortic dissection reported that among 9 cases with described access routes, TF was used in 5, TB in 3, and TR in 1.16) In addition, there are some case reports of carotid exposure in patients who underwent BCA replacement after type A aortic dissection.4,17) These considerations suggest that if aortic dissection is the sole significant vascular comorbidity, MT via TF, TB, or TR approaches may be feasible. However, in patients with a prosthetic graft in the BCA or CCA, TF or TB access is nearly impossible because of the extreme tortuousness of the graft, and consideration for carotid access is warranted.
Direct carotid access for MT can be obtained either by percutaneous puncture or by surgical exposure. Although comparative high-level evidence is lacking, observational series and reviews indicate trade-offs between the 2 approaches. Percutaneous direct carotid puncture is generally faster and less invasive but may carry a higher risk of local bleeding complications such as neck hematoma and pseudoaneurysm. Surgical exposure provides secure control of the artery and allows primary arterial repair after sheath removal, which may reduce the risk of access-site hemorrhage; however, it requires a longer procedure time.18)
None of the 3 previously reported MFS cases who underwent MT had a prosthetic graft in the access route. The TF approach was used in 2 cases and the TB approach in 1, with no access-site complications reported. To our knowledge, this is the first reported case of MT in an MFS patient following BCA replacement, and consequently, the first documented use of a carotid approach in an MFS patient. It remains to be determined whether carotid access in this patient population necessitates surgical exposure or if percutaneous puncture would suffice.
Recanalization techniquesThe vasculature in patients with MFS is structurally fragile and presumed to be highly susceptible to dissection or perforation during endovascular interventions, particularly with the use of SRs. Given the disease's rarity, large-scale research to establish optimal treatment methods is precluded. Therefore, clinicians must rely on individual case reports to guide their therapeutic approach.
MFS patients often have undergone artificial valve replacement. Post-mechanical valve replacement, patients are known to develop platelet-fibrin thrombi.19) Fibrin-rich thrombi are associated with lower recanalization rates in MT compared to red blood cell-rich thrombi, and for such thrombi, a first-line SR approach is significantly more likely to achieve complete recanalization than first-line contact aspiration.20)
All 3 previously reported MFS cases utilized SRs without device-related complications. Although we initially avoided SR use due to vessel fragility associated with MFS, an SR was used eventually in a combined technique without intracranial complications. These reports suggest that the use of SR in MFS patients does not necessarily result in vascular complications. It goes without saying, however, that a highly cautious procedure is the most critical element, irrespective of the chosen modality.
LimitationsThe primary limitation of this study is that it is a single case report. Though it contributes to the sparse literature on this topic, the conclusions drawn are inherently limited. Generalizable conclusions and treatment recommendations will require the accumulation of further case studies and, ideally, the establishment of multicenter registries.
All authors have no conflict of interest.
The authors did not receive support from any organization for the submitted work.
Ethics approval was waived by the institutional review board due to the nature of this case report.
The patient has consented to the submission of the case report to the journal.
No data is available.
Generative AI and AI-assisted technologies were NOT used in the preparation of this work.
