The Curated Treatment of a Young Woman With Marfan Syndrome: Elective Open Ascending Repair to Emergent Thoracoabdominal Endovascular Repair

Abstract

Background:

Hereditary aortopathies traditionally require open repair when significant pathologies arise. Open provides the most durable outcome for nominally a younger patient population that can tolerate larger procedures well. In certain situations, literature has described proceeding with endovascular repair in patients with known hereditary aortopathies.

Case Report:

This case report describes the treatment of a 29-year-old female with a history of type A dissection previously treated with a valve sparing aortic root repair and a type B dissection with a thoracic endovascular aortic repair (TEVAR) 2 years prior. Genetic testing then confirmed Marfan’s syndrome, and she was followed by vascular medicine specialists and optimized medically. Several other family members also tested positive and imaging revealed aortic abnormalities. She arrived at our institution endorsing severe nausea, vomiting, back, flank, and abdominal pain. She was found on imaging to have a rapidly degenerating type II thoracoabdominal aortic aneurysm (TAAA) with dissection. A multidisciplinary team evaluated the patient and working with cardiothoracic (CT) surgery, our initial plan was an open repair. Following admission to the ICU, her symptoms improved with tight blood pressure control; however, she rapidly clinically decompensated with worsening pain and hypotension the day prior to her planned open repair. A massive transfusion protocol was initiated and CT scan revealed more than a 1 cm growth and evolution of her dissection. At the time, the CT surgery group were in cases and could not free an attending, and therefore recommended that we temporize the situation with balloon control and a fenestrated repair. We emergently proceeded to the operating room and obtained balloon control prior to induction of anesthesia while the 4-vessel fenestrated/branched endograft (F/BEVAR) was constructed. Repair was carried out with a bifurcated graft into the bilateral iliac arteries. However, following the endovascular repair, the patient did not want to proceed with a large open surgery and was managed definitively with endovascular means and ultimately required reintervention for a type 3 endoleak (EL) (bridging TEVAR) and type 1B EL requiring hypogastric preservation to minimize spinal cord ischemia. CT scan prior to discharge revealed only a type 2 EL, and she was discharged home with full motor and sensory function. Approximately 1 year later, a CT scan revealed regression of the aneurysm near her visceral segment, but growth near the aortic bifurcation and a type 2 EL. This was treated with a trans-caval approach and embolization of several segmental branches and the aneurysm sac with thrombin and gelfoam. Subsequent CT scans over the next 2 years have shown continued sac regression.

Conclusion:

This case serves as an example that an endovascular repair may play a role in the emergent treatment of complex anatomies in patients with Marfan syndrome especially when refusing open surgery. This repair has to date shown mid-term success with near-complete aneurysm sac regression and no endoleak, but to achieve this the patient has required strict surveillance and 2 reinterventions in the first year following the index case. Ultimately, this represents one of the first ruptured TAAA in a Marfan patient treated with a F/BEVAR.

Clinical Impact

Patients with genetic aortopathies are at risk for aneurysmal degeneration and disease progression. It is important to manage patients with genetic aortopathies expeditiously and in emergency settings a total endovascular approach can be used. Each case requires a multidisciplinary approach and thoughtful planning.