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Loeys-Dietz Syndrome: MDCT Angiography Findings

¹ Russell H. Morgan Department of Radiology and Radiological Science, Johns Hopkins School of Medicine, 601 N Caroline St., Rm. 3251, Baltimore, MD 21287.
² Johns Hopkins University School of Medicine, Baltimore, MD.
³ McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins School of Medicine, Baltimore, MD.
⁴ Howard Hughes Medical Institute, Chevy Chase, MD.

View larger version (139K): [in this window] [in a new window] [as a PowerPoint slide]   Fig. 1A —16-year-old boy with bifid uvula, cleft palate, pectus carinatum, scoliosis, developmental delay, and dilated aortic root. Coronal oblique color-coded volume rendering (A), coronal color-coded volume rendering (B), and coronal multiplanar reformation (C) from IV contrast-enhanced neck MDCT reveal marked vertebral artery tortuosity bilaterally (long arrows) and hairpin turn of left internal carotid artery (short arrow, A).

View larger version (117K): [in this window] [in a new window] [as a PowerPoint slide]   Fig. 1B —16-year-old boy with bifid uvula, cleft palate, pectus carinatum, scoliosis, developmental delay, and dilated aortic root. Coronal oblique color-coded volume rendering (A), coronal color-coded volume rendering (B), and coronal multiplanar reformation (C) from IV contrast-enhanced neck MDCT reveal marked vertebral artery tortuosity bilaterally (long arrows) and hairpin turn of left internal carotid artery (short arrow, A).

View larger version (97K): [in this window] [in a new window] [as a PowerPoint slide]   Fig. 1C —16-year-old boy with bifid uvula, cleft palate, pectus carinatum, scoliosis, developmental delay, and dilated aortic root. Coronal oblique color-coded volume rendering (A), coronal color-coded volume rendering (B), and coronal multiplanar reformation (C) from IV contrast-enhanced neck MDCT reveal marked vertebral artery tortuosity bilaterally (long arrows) and hairpin turn of left internal carotid artery (short arrow, A).

View larger version (132K): [in this window] [in a new window] [as a PowerPoint slide]   Fig. 2A —15-month-old girl with hypertelorism, bifid uvula, arachnodactyly, patent ductus arteriosus, and progressive severe aortic root dilatation. Genetic testing confirmed Loeys-Dietz syndrome. Sagittal oblique (A) and coronal (B) volume rendering from IV contrast-enhanced MDCT image show severe enlargement of aortic root (short arrows, B) and coil that was previously placed in patient's patent ductus arteriosus (arrowheads). Patient underwent valve-sparing aortic root replacement and ligation of patent ductus arteriosus. Note tortuosity of right vertebral artery (long arrows, B).

View larger version (168K): [in this window] [in a new window] [as a PowerPoint slide]   Fig. 2B —15-month-old girl with hypertelorism, bifid uvula, arachnodactyly, patent ductus arteriosus, and progressive severe aortic root dilatation. Genetic testing confirmed Loeys-Dietz syndrome. Sagittal oblique (A) and coronal (B) volume rendering from IV contrast-enhanced MDCT image show severe enlargement of aortic root (short arrows, B) and coil that was previously placed in patient's patent ductus arteriosus (arrowheads). Patient underwent valve-sparing aortic root replacement and ligation of patent ductus arteriosus. Note tortuosity of right vertebral artery (long arrows, B).

View larger version (60K): [in this window] [in a new window] [as a PowerPoint slide]   Fig. 3 —9-year-old girl with Loeys-Dietz syndrome and multiple congenital anomalies including hypertelorism, bifid uvula, club feet, hip dislocation, cervical spine instability, pectus carinatum, scoliosis, patent ductus arteriosus, and aortic root dilatation. Axial IV contrast-enhanced MDCT scan shows enlargement of aortic root (arrows); additional CT findings included markedly tortuous carotid arteries (Figs. 8A and 8B).

View larger version (49K): [in this window] [in a new window] [as a PowerPoint slide]   Fig. 4A —3-year-old girl with Loeys-Dietz syndrome and hypertelorism, bifid uvula, patent ductus arteriosus, Chiari malformation, and craniosynostosis. Axial IV contrast-enhanced MDCT scans show that aortic root (AR in A) is dilated, as was main pulmonary artery (MPA in B).

View larger version (51K): [in this window] [in a new window] [as a PowerPoint slide]   Fig. 4B —3-year-old girl with Loeys-Dietz syndrome and hypertelorism, bifid uvula, patent ductus arteriosus, Chiari malformation, and craniosynostosis. Axial IV contrast-enhanced MDCT scans show that aortic root (AR in A) is dilated, as was main pulmonary artery (MPA in B).

View larger version (65K): [in this window] [in a new window] [as a PowerPoint slide]   Fig. 5 —52-year-old man with strong family history of premature death due to aneurysm; genetic testing confirmed Loeys-Dietz syndrome. Axial IV contrast-enhanced MDCT scan shows aneurysmal dilatation of left anterior descending coronary artery (arrows). Other findings (not shown) included rapidly increasing aortic root aneurysm, infrarenal abdominal aortic and iliac artery aneurysms, and tortuous vertebral and extracranial carotid arteries. Aortic root and aortoiliac aneurysms were surgically repaired, revealing cystic medial degeneration of thoracic aorta and marked elastic fiber fragmentation of abdominal aorta at pathology.

View larger version (123K): [in this window] [in a new window] [as a PowerPoint slide]   Fig. 6A —27-year-old man whose Loeys-Dietz syndrome phenotypically resembles vascular Ehlers-Danlos syndrome, with diffuse arterial tortuosity and dilatation of vertebral, mesenteric, and intracranial carotid arteries. After ascending aortic aneurysm repair for dissecting aneurysm and replacement of aortic and mitral valves, clinical symptoms of chest pain prompted MDCT, which revealed aneurysmal dilatation (arrow) of proximal right coronary artery, shown on sagittal oblique volume rendering (A) and color-coded axial oblique volume rendering from superior orientation (B). Patient underwent surgical repair of right coronary artery aneurysm.

View larger version (141K): [in this window] [in a new window] [as a PowerPoint slide]   Fig. 6B —27-year-old man whose Loeys-Dietz syndrome phenotypically resembles vascular Ehlers-Danlos syndrome, with diffuse arterial tortuosity and dilatation of vertebral, mesenteric, and intracranial carotid arteries. After ascending aortic aneurysm repair for dissecting aneurysm and replacement of aortic and mitral valves, clinical symptoms of chest pain prompted MDCT, which revealed aneurysmal dilatation (arrow) of proximal right coronary artery, shown on sagittal oblique volume rendering (A) and color-coded axial oblique volume rendering from superior orientation (B). Patient underwent surgical repair of right coronary artery aneurysm.

View larger version (134K): [in this window] [in a new window] [as a PowerPoint slide]   Fig. 7A —24-year-old man with Loeys-Dietz syndrome and complicated cardiovascular history. He underwent repair of aortic root at age of 8 years and developed aortic arch dissection at age 17 years. Subsequent imaging revealed 5-cm thoracoabdominal aortic aneurysm with chronic dissection, and patient's entire descending and abdominal aortas were replaced with Dacron (polyethylene terephthalate fiber, DuPont) graft. The patient developed pancreatitis due to large aneurysm of superior mesenteric artery (Figs. 11A, 11B, and 11C). In the next month, he was found to have 2.8-cm left internal carotid artery aneurysm, repaired with graft. Additional aneurysms have been identified in innominate, bilateral subclavian, vertebral, common carotid, internal thoracic, and common iliac (Figs. 11A, 11B, and 11C) arteries. Sagittal multiplanar reformation from IV contrast-enhanced MDCT scan shows bilobed, thrombosed pseudoaneurysm (arrowheads) in left lung apex that was previously treated with coil embolization.

View larger version (140K): [in this window] [in a new window] [as a PowerPoint slide]   Fig. 7B —24-year-old man with Loeys-Dietz syndrome and complicated cardiovascular history. He underwent repair of aortic root at age of 8 years and developed aortic arch dissection at age 17 years. Subsequent imaging revealed 5-cm thoracoabdominal aortic aneurysm with chronic dissection, and patient's entire descending and abdominal aortas were replaced with Dacron (polyethylene terephthalate fiber, DuPont) graft. The patient developed pancreatitis due to large aneurysm of superior mesenteric artery (Figs. 11A, 11B, and 11C). In the next month, he was found to have 2.8-cm left internal carotid artery aneurysm, repaired with graft. Additional aneurysms have been identified in innominate, bilateral subclavian, vertebral, common carotid, internal thoracic, and common iliac (Figs. 11A, 11B, and 11C) arteries. Thrombosed right subclavian pseudoaneurysm (black arrows) with metallic density, probably representing coils, is shown on coronal oblique volume rendering. Vascular tortuosity of aorta and great vessels (white arrows) was also identified. Noncardiovascular findings of Loeys-Dietz syndrome included hypertelorism, bifid uvula, and musculoskeletal abnormalities.

View larger version (115K): [in this window] [in a new window] [as a PowerPoint slide]   Fig. 8A —9-year-old girl (same patient as in Fig. 3) with multiple congenital anomalies including aortic root dilatation and cervical spine instability. Marked tortuosity of carotid arteries (arrows) is shown on coronal oblique (A) and sagittal (B) color-coded volume renderings from IV contrast-enhanced MDCT.

View larger version (130K): [in this window] [in a new window] [as a PowerPoint slide]   Fig. 8B —9-year-old girl (same patient as in Fig. 3) with multiple congenital anomalies including aortic root dilatation and cervical spine instability. Marked tortuosity of carotid arteries (arrows) is shown on coronal oblique (A) and sagittal (B) color-coded volume renderings from IV contrast-enhanced MDCT.

View larger version (145K): [in this window] [in a new window] [as a PowerPoint slide]   Fig. 9A —12-year-old boy with history of progressive aortic root enlargement, craniosynostosis, cervical spine instability, bifid uvula, pectus deformity, scoliosis, joint laxity, horseshoe kidney, and developmental delay. Genetic testing confirmed Loeys-Dietz syndrome. On contrast-enhanced MDCT, pulmonary root and aortic root were dilated (not shown); latter was repaired with valve-sparing aortic root replacement. Marked tortuosity of carotid arteries (arrows, A) and vertebral arteries (B) is apparent on these coronal color-coded volume renderings from IV contrast-enhanced MDCT.

View larger version (137K): [in this window] [in a new window] [as a PowerPoint slide]   Fig. 9B —12-year-old boy with history of progressive aortic root enlargement, craniosynostosis, cervical spine instability, bifid uvula, pectus deformity, scoliosis, joint laxity, horseshoe kidney, and developmental delay. Genetic testing confirmed Loeys-Dietz syndrome. On contrast-enhanced MDCT, pulmonary root and aortic root were dilated (not shown); latter was repaired with valve-sparing aortic root replacement. Marked tortuosity of carotid arteries (arrows, A) and vertebral arteries (B) is apparent on these coronal color-coded volume renderings from IV contrast-enhanced MDCT.

View larger version (134K): [in this window] [in a new window] [as a PowerPoint slide]   Fig. 10A —44-year-old woman with Loeys-Dietz syndrome and history of type B aortic dissection. Multiple surgeries have resulted in replacement of entire thoracoabdominal aorta except for ascending thoracic segment, with patch anastomoses to celiac artery, superior mesenteric artery, inferior mesenteric artery, and right renal artery. Left kidney has been removed. Coronal oblique (A) and sagittal oblique (B) color-coded volume rendering from IV contrast-enhanced MDCT showed patch aneurysms of various sizes involving celiac artery (small white arrow), superior mesenteric artery (large white arrow), and inferior mesenteric artery (black arrow), latter of which originates from right common iliac artery. Right renal artery (arrowheads) arises from large aneurysm that involves superior mesenteric artery. Patient underwent hepatorenal bypass, followed by direct repair of celiac and superior mesenteric artery aneurysms in conjunction with aortomesenteric bypass.

View larger version (103K): [in this window] [in a new window] [as a PowerPoint slide]   Fig. 10B —44-year-old woman with Loeys-Dietz syndrome and history of type B aortic dissection. Multiple surgeries have resulted in replacement of entire thoracoabdominal aorta except for ascending thoracic segment, with patch anastomoses to celiac artery, superior mesenteric artery, inferior mesenteric artery, and right renal artery. Left kidney has been removed. Coronal oblique (A) and sagittal oblique (B) color-coded volume rendering from IV contrast-enhanced MDCT showed patch aneurysms of various sizes involving celiac artery (small white arrow), superior mesenteric artery (large white arrow), and inferior mesenteric artery (black arrow), latter of which originates from right common iliac artery. Right renal artery (arrowheads) arises from large aneurysm that involves superior mesenteric artery. Patient underwent hepatorenal bypass, followed by direct repair of celiac and superior mesenteric artery aneurysms in conjunction with aortomesenteric bypass.

View larger version (138K): [in this window] [in a new window] [as a PowerPoint slide]   Fig. 11A —24-year-old man with Loeys-Dietz syndrome and complicated cardiovascular history (same patient as in Figs. 7A and 7B). Axial IV contrast-enhanced MDCT scans (A and B) and coronal color-coded volume rendering (C) show large aneurysm of superior mesenteric artery (arrows) and right common iliac artery aneurysm (arrowheads, C). Other CT findings (Figs. 7A and 7B) included thrombosed pseudoaneurysms in lung apices and vascular tortuosity.

View larger version (135K): [in this window] [in a new window] [as a PowerPoint slide]   Fig. 11B —24-year-old man with Loeys-Dietz syndrome and complicated cardiovascular history (same patient as in Figs. 7A and 7B). Axial IV contrast-enhanced MDCT scans (A and B) and coronal color-coded volume rendering (C) show large aneurysm of superior mesenteric artery (arrows) and right common iliac artery aneurysm (arrowheads, C). Other CT findings (Figs. 7A and 7B) included thrombosed pseudoaneurysms in lung apices and vascular tortuosity.

View larger version (118K): [in this window] [in a new window] [as a PowerPoint slide]   Fig. 11C —24-year-old man with Loeys-Dietz syndrome and complicated cardiovascular history (same patient as in Figs. 7A and 7B). Axial IV contrast-enhanced MDCT scans (A and B) and coronal color-coded volume rendering (C) show large aneurysm of superior mesenteric artery (arrows) and right common iliac artery aneurysm (arrowheads, C). Other CT findings (Figs. 7A and 7B) included thrombosed pseudoaneurysms in lung apices and vascular tortuosity.

View larger version (79K): [in this window] [in a new window] [as a PowerPoint slide]   Fig. 12A —55-year-old man with hypertelorism, low flat palate, and dilated aortic root. Genetic testing confirmed Loeys-Dietz syndrome. Axial section (A) and sagittal multiplanar reformation (B) and sagittal oblique color-coded volume rendering (C) from IV contrast-enhanced MDCT depict bilateral popliteal artery aneurysms (arrows, A and B). Right side was more severe, spanning 15 cm cephalocaudally, with maximum diameter of 4.4 cm and significant mural thrombus that narrowed arterial lumen. Other findings at CT (not shown) included aortic root dilatation to 4.5 cm and aneurysmal dilatation of proximal superior mesenteric artery. Patient underwent aortic root replacement because of risk of rupture, followed by repair of right popliteal artery aneurysm.

View larger version (78K): [in this window] [in a new window] [as a PowerPoint slide]   Fig. 12B —55-year-old man with hypertelorism, low flat palate, and dilated aortic root. Genetic testing confirmed Loeys-Dietz syndrome. Axial section (A) and sagittal multiplanar reformation (B) and sagittal oblique color-coded volume rendering (C) from IV contrast-enhanced MDCT depict bilateral popliteal artery aneurysms (arrows, A and B). Right side was more severe, spanning 15 cm cephalocaudally, with maximum diameter of 4.4 cm and significant mural thrombus that narrowed arterial lumen. Other findings at CT (not shown) included aortic root dilatation to 4.5 cm and aneurysmal dilatation of proximal superior mesenteric artery. Patient underwent aortic root replacement because of risk of rupture, followed by repair of right popliteal artery aneurysm.

View larger version (75K): [in this window] [in a new window] [as a PowerPoint slide]   Fig. 12C —55-year-old man with hypertelorism, low flat palate, and dilated aortic root. Genetic testing confirmed Loeys-Dietz syndrome. Axial section (A) and sagittal multiplanar reformation (B) and sagittal oblique color-coded volume rendering (C) from IV contrast-enhanced MDCT depict bilateral popliteal artery aneurysms (arrows, A and B). Right side was more severe, spanning 15 cm cephalocaudally, with maximum diameter of 4.4 cm and significant mural thrombus that narrowed arterial lumen. Other findings at CT (not shown) included aortic root dilatation to 4.5 cm and aneurysmal dilatation of proximal superior mesenteric artery. Patient underwent aortic root replacement because of risk of rupture, followed by repair of right popliteal artery aneurysm.

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