Aortic dissection in a patient affected by Marfan syndrome

A 43-year-old male, presented at our emergency department with acute chest pain that radiated to his interscapular region and left leg. No history of smoking or cardiovascular disease.

The CT scan revealed an intimal flap indicating an aortic dissection, originating from the area of the right coronary artery (RCA) (Figure 1) and extending throughout the remaining thoracoabdominal aorta and into the left iliac common artery, classificated as Stanford A / DeBakey I type (Video 1 and Figure 2).

Annuloaortic ectasia (aortic root 28 mm), sinus of Valsalva 45 mm, sinotubular junction (44 mm) and aortic ascending aneurysm (65 mm) (Figure 3).

Dural ectasia (ratio L4/S1 0.6) (Figure 4).

The diagnosis of Marfan syndrome was confirmed by genetic test with mutation of the FBN1 gene.

Marfan syndrome is an autosomal dominant condition [1]. This connective tissue disorder results in abnormalities of the aortic wall, leading to progressive aortic dilatation and an increased risk of dissection. Notably, aortic root dilatation and dissection are considered cardinal features of Marfan syndrome according to the Ghent criteria [2].

Dissection is the most frequently encountered emergency affecting the aorta associated with a high mortality rate. Its classification is based on the location of the intimal tear, utilizing the Stanford system. Type A involves the ascending thoracic aorta and may extend into the descending aorta. In the context of Marfan patients, approximately 68% of cases are classified as Type A [3].

The radiological findings show a widened mediastinum, observed in approximately 61.1% of cases of aortic dissection [4]. The classic intimal flap, which occurs when blood enters the medial layer through an intimal tear, resulting in the formation of a true lumen and a false lumen separated by the flap, is seen in around 70% of aortic dissection cases [5]. In some instances, a circumferential intimal flap may occur due to dissection of the entire intima. The true lumen can appear narrow and filiform, while an intimo-intimal intussusception can create a windsock-like appearance. Differentiating the true lumen from the false lumen is crucial for planning endovascular interventional procedures [6].

Cardiovascular manifestations include annuloaortic ectasia with or without aortic valve insufficiency, aortic dissection, aortic aneurysm, and mitral valve prolapse [7]. Normal value for men of aortic annulus is 23.9 mm, aortic sinus 31.9 mm, sinotubular junction 24.4 mm and ascending aorta 26 mm [8]. Dural ectasia is a characteristic manifestation affecting the central nervous system. Pneumothorax and bullae are potential pulmonary manifestations that can occur [7]. The diagnosis of Marfan syndrome is typically based on the presence of a combination of major and minor clinical features, as outlined in the Berlin classification. Among the complications associated with Marfan syndrome, aortic dissection, congestive heart failure, and cardiac valve disease are more prevalent and account for over 90% of the reported causes of death [9].

In patients with Type A aortic dissection open surgery is the preferred treatment option [10].

Teaching points

The presence of aortic dissection raises suspicion for Marfan syndrome, and radiology findings should focus on identifying associated features such as valvuloanular ectasia, dural ectasia, pulmonary changes, and musculoskeletal abnormalities.

Written informed patient consent for publication has been obtained.