Severe aortic and arterial aneurysms associated with a TGFBR2 mutation

Background A 24-year-old man presented with previously diagnosed Marfan's syndrome. Since the age of 9 years, he had undergone eight cardiovascular procedures to treat rapidly progressive aneurysms, dissection and tortuous vascular disease involving the aortic root and arch, the thoracoabdominal aorta, and brachiocephalic, vertebral, internal thoracic and superior mesenteric arteries. Throughout this extensive series of cardiovascular surgical repairs, he recovered without stroke, paraplegia or renal impairment. Investigations CT scans, arteriogram, genetic mutation screening of transforming growth factor beta receptors 1 and 2. Diagnosis Diffuse and rapidly progressing vascular disease in a patient who met the diagnostic criteria for Marfan's syndrome, but was later rediagnosed with Loeys-Dietz syndrome. Genetic testing also revealed a de novo mutation in transforming growth factor beta receptor 2. Management Regular cardiovascular surveillance for aneurysms and dissections, and aggressive surgical treatment of vascular disease.