Vascular Ehlers-Danlos syndrome with ruptured thoracic aortic aneurysm complicated by vascular graft and endograft infection and aortobronchial fistula

Abstract

The combination of vascular graft or endograft infection and aortic hereditary disease is extremely rare and just as challenging. We report the case of a 40-year-old man presenting with a ruptured saccular aortic isthmus aneurysm treated with thoracic endovascular aortic repair, complicated by vascular graft or endograft infection with an aortobronchial fistula and multiple pseudoaneurysms. Despite complete graft explantation, prolonged antibiotic therapy, and additional endovascular and open interventions, he developed recurrent pseudoaneurysms with an ultimately fatal outcome. Genetic testing revealed a pathogenic COL3A1 mutation consistent with vascular Ehlers-Danlos syndrome. This case illustrates the diagnostic and therapeutic dilemma at the intersection of infection and heritable aortic diseases, underscoring the need for multidisciplinary management in complex aortic pathology.

Thoracic endovascular aortic repair (TEVAR) has transformed the management of ruptured thoracic aortic aneurysms, offering significantly lower early morbidity and mortality compared with open repair.¹ Vascular graft or endograft infection (VGEI) after TEVAR is uncommon, reported in <1% of cases.² When complicated by aortobronchial fistula (ABF)—reported in approximately 0.5% of patients—the prognosis is particularly poor. Cases requiring explantation and radical reconstruction are associated with substantial perioperative mortality, ranging from 15% to 41%.³

Heritable aortic diseases (AHDs), particularly vascular Ehlers-Danlos syndrome (vEDS), confer marked arterial fragility and poor long-term survival. Median survival in historical cohorts is approximately 51 years, with outcomes strongly influenced by mutation type; glycine substitutions are associated with worse outcomes.⁴

The coexistence of acute rupture managed by TEVAR, VGEI with ABF, and an unrecognized underlying AHD is exceptionally rare and presents unique diagnostic and therapeutic challenges. We present a case combining these three elements and discuss the implications for diagnosis, surgical planning, and long-term surveillance.

Case report

A 40-year-old man presented with a 3-month history of dyspnea, dysphonia, and dysphagia. He had no history of trauma, and routine laboratory investigations were within normal limits. Computed tomography angiography (CTA) demonstrated a contained ruptured saccular aneurysm of the aortic isthmus measuring 7 cm in diameter, with focal loss of aortic wall integrity and surrounding periaortic hematoma without evidence of active contrast extravasation, causing compression of the left inferior pulmonary lobe and esophagus (Fig 1). TEVAR was performed with successful deployment of a 160 × 34 × 28 mm Lifetech Ankura thoracic stent graft (Lifetech Scientific) via a combined percutaneous left radial and surgical cutdown right femoral approach, with proximal landing just distal to the left subclavian artery.

Fig 1.

Computed tomography angiography (CTA) imaging showing a 7-cm saccular aneurysm of the aortic isthmus (A) causing a collapsed esophagus and left inferior pulmonary lobe (B).

One month later, the patient developed fever, asthenia, and markedly elevated inflammatory markers (C-reactive protein, 310 mg/L; white blood cell count, 22,600 cells/μL). CTA revealed a periaortic hematoma and periaortic air consistent with an ABF (Fig 2). Transthoracic echocardiography demonstrated two vegetations on the aortic and tricuspid valves. The patient fulfilled the Management of Aortic Graft Infection Collaboration criteria for a thoracic VGEI complicated by fistula. After a multidisciplinary discussion, radical surgery was undertaken under cardiopulmonary bypass. The procedure began with resection of the valvular vegetations. This procedure was followed by creation of an extra-anatomical, ventrally routed ascending-to-descending aortic bypass using an 18-mm rifampicin-soaked Dacron graft, with felt-reinforced anastomoses—proximal side-to-end from the ascending aorta to the graft and distal end-to-side from the graft to the descending aorta. Finally, the infected endograft was explanted, with proximal and distal aortic ligation and repair of the ABF (Fig 3). Culture specimens were procured, including from the endograft and blood samples, and were negative except for Pseudomonas aeruginosa isolated from the vegetations. The postoperative course was uneventful, and the patient completed 45 days of targeted intravenous antibiotics before being discharged in stable condition. At follow-up, he was asymptomatic, inflammatory markers had normalized, and a CT scan demonstrated a patent bypass without signs of infection.

Fig 2.

Computed tomography angiography (CTA) revealing periaortic air suggestive of a vascular graft or endograft infection (VGEI).

Fig 3.

Perioperative imaging of the ventral aorta configuration (A), the infected endograft (B), and the aortobronchial fistula (ABF) (C).

Nine months later, routine follow-up CTA demonstrated a pseudoaneurysm (PA) at the proximal aortic ligation site involving the supra-aortic trunks (Fig 4). His laboratory inflammatory markers were normal. Given the size of the PA and the imminent rupture risk, surgical repair was performed consisting of exclusion of the PA and reconstruction of a neocross by en bloc reimplantation of the supra-aortic trunks as a single composite arterial patch onto a Dacron graft anastomosed to the ascending aorta. The patient tolerated the procedure well and was discharged 2 weeks later.

Fig 4.

Computed tomography angiography (CTA) of the a pseudoaneurysm (PA) at the proximal aortic ligation site involving the supra-aortic trunks.

Six months thereafter, the patient remained asymptomatic, but a control CTA demonstrated a new 7-cm PA at the distal anastomosis of the ascending to descending aortic bypass. Infectious workup again yielded negative results. After a multidisciplinary discussion involving vascular and cardiac surgeons, anesthesiologists, infectious disease specialists, and internal medicine, the patient provided informed consent for the planned procedure. The PA was excluded by endovascular placement of a Lifetech Ankura aortic stent graft within the ascending to descending aortic graft, landing just above the celiac trunk (Lifetech Scientific).

Nine months later, surveillance CTA revealed yet another PA at the neocross (junction between the supra-aortic patch and the Dacron graft), associated with a massive PA of the distal landing zone of the previously deployed endograft (Fig 5). Given recurrent PAs despite adequate infection control, genetic evaluation for aortic hereditary disease was undertaken, revealing a pathogenic COL3A1 mutation consistent with vEDS. The delay reflected the lack of on-site testing and the need to send samples to an external laboratory. Although initially asymptomatic and with again negative infectious workup, the patient developed acute abdominal pain. Owing to concern for impending rupture, he was urgently taken to the operating room for exploration. He underwent explantation of the stent graft and interposition of a Dacron graft between the ventral aorta and the visceral aorta in an end-to-end fashion. The postoperative course was complicated by disseminated intravascular coagulation, and the patient died 48 hours later.

Fig 5.

Computed tomography angiography (CTA) revealing a pseudoaneurysm (PA) of the junction between the supra-aortic trunks and the Dacron graft (A), and a second PA of the distal landing zone of the endograft (B).

Written informed consent for publication was obtained from the patient's next of kin.

Discussion

This case highlights the exceptional complexity of managing recurrent vascular complications in a young patient with overlapping infectious and genetic etiologies. It also underscores the importance to suspect AHD in a patient with an aortic aneurysm and aged <60 years. The initial presentation with a contained ruptured saccular aneurysm of the aortic isthmus suggested an acquired process, later complicated by endograft infection and ABF, both well-documented but rare complications of TEVAR.^5,6 Despite radical surgery, antibiotic therapy, and repeated reinterventions, the patient developed multiple PAs and ultimately fatal rupture.

The subsequent discovery of a COL3A1 mutation confirmed underlying vEDS, a known cause of spontaneous arterial rupture and postoperative arterial wall fragility.⁷ However, differentiating whether the predominant driver of pathology was infection, hereditary structural weakness, or a synergistic interaction between them remains difficult. It is also conceivable that an unrecognized ABF was present at the time of the first presentation of the ruptured thoracic aortic aneurysm treated with TEVAR, allowing P aeruginosa to infect the endograft early on. Alternatively, an underlying connective tissue disorder may have predisposed to microtears and tissue necrosis, which subsequently became secondarily infected. However, in both scenarios, the infection and genetic fragility amplified the other through inflammation, tissue degradation, and impaired healing.

Diagnostic and therapeutic ambiguity is not uncommon in complex acute aortic presentations and complications, particularly in young patients or those with atypical aneurysm morphology. Early consideration of aortic hereditary disease in such presentations may influence the timing of genetic testing, guide the choice of surgical approach and extent of surgical resection, and inform postoperative surveillance strategies.⁸ Ultimately, this case underscores the need for a multidisciplinary approach combining vascular surgery, infectious disease, genetics, and imaging expertise to tailor management in patients at the intersection of infection and connective tissue disease.

Furthermore, it highlights the importance of family screening in heritable aortic diseases. After genetic counseling, the patient's first-degree relatives were tested for the pathogenic COL3A1 mutation. His siblings were found to be negative, providing reassurance regarding their risk and emphasizing the value of early identification and tailored surveillance in at-risk family members.

Conclusions

This case highlights the difficulty of discerning the contributions of infection and underlying AHD in recurrent PA formation. Patients with vEDS remain at high risk for recurrent complications rendering surgical or endovascular interventions particularly challenging. Early recognition of AHD, timely genetic testing, and a multidisciplinary approach are essential to guide surgical planning, postoperative surveillance, and patient counseling in such high-risk patients.

Funding

None.

Disclosures

None.