Severe aortic and arterial aneurysms associated with a TGFBR2 mutation

Abstract

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.

Figure 1

Illustration showing the results of three aortic operations the patient underwent between the ages of 9 and 18 years, involving graft replacement of the aortic root, ascending aorta, transverse aortic arch and entire thoracoabdominal aorta.

Figure 2

Imaging and reconstruction of aneurysms in arteries originating from the aortic arch. (A) A drawing and (B) preoperative CT scan showing aneurysms identified in the patient at the age of 19 years. (C) Illustration showing graft repair of the superior transverse aortic arch with graft replacement of the brachiocephalic vessels and ligation of the left internal thoracic artery through an upper hemisternotomy. Abbreviations: IA, innominate artery; ITA, internal thoracic arteries; SCA, subclavian artery.

Figure 3

Arteriogram demonstrating marked tortuosity of the supraclavicular branch vessels (arrowhead) and a pseudoaneurysm involving the right subclavian artery (arrow).

Figure 4

Photographs illustrating the patient’s mildly dysmorphic facial features, including hypertelorism, micrognathia, downslanting palpebral fissures and long philtrum with a thin upper lip, and skeletal features, including a repaired pectus excavatum, scoliosis and pes planus.

Figure 5

Radiographs demonstrating elongated lung fields of the chest. (A) Posteroanterior and (B) lateral chest radiographs demonstrating elongated lung fields. The radiodense material in the right upper peristernal region (indicated by arrows) is fibrin glue within the thrombosed right internal thoracic artery aneurysm.