Noonan's Syndrome Associated with Spontaneous Rupture of the Ascending Aorta

Abstract

Noonan's syndrome associated with spontaneous rupture of the ascending aorta is rare. Review of the literature reveals only one such reported case. The authors describe a 41-year-old male with Noonan's syndrome who initially presented with lower extremity claudication. Computed tomography and digital subtraction angiography disclosed an abnormal dilation of the ascending thoracic aorta and a distal abdominal aortic dissection. The patient underwent successful aortoiliac bypass graft. Seven months later, he suffered rupture of his ascending aorta, resulting in death.

Frequency of Aortic Dilation in Noonan Syndrome

“…A literature review revealed a few case reports of aortic aneurysm at the aortic root or ascending aorta in NS (Table 1). 9–17 For the other, rarer RASopathies, one case of aortic root aneurysm in an adolescent with Costello syndrome was identified. 18 The combination of clinically relevant aortic issues in several NS patients and evidence suggesting the involvement of MAPK pathways in the development of aortic aneurysms led us to investigate the prevalence of aortic dilation in NS patients using a retrospective study design.…”