DOI:10.2214/AJR.06.1316
AJR 2007; 189:W29-W35
© American Roentgen Ray Society
Loeys-Dietz Syndrome: MDCT Angiography Findings
Pamela T. Johnson1,
Jennifer K. Chen2,
Bart L. Loeys3,
Harry C. Dietz3,4 and
Elliot K. Fishman1
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.
Received October 5, 2006;
accepted after revision January 17, 2007.
Address correspondence to P. T. Johnson
(pjohnso5{at}jhmi.edu).
WEB
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Abstract
OBJECTIVE. Loeys-Dietz syndrome is a newly described phenotype
caused by heterozygous mutations in the genes encoding type I or II
transforming growth factor-ß (TGF-ß) receptor. Characterized by a
unique constellation of clinical and pathologic findings, Loeys-Dietz syndrome
manifests with aggressive vascular pathology. Aneurysms may form at a young
age and have a propensity for arterial dissection. In addition, aneurysms
rupture at diameters smaller than those used to dictate surgical intervention
for other syndromes and disorders. This article presents the spectrum of
arterial pathology that may be identified on MDCT angiography in patients with
Loeys-Dietz syndrome.
CONCLUSION. For patients with Loeys-Dietz syndrome, early diagnosis
and rapid intervention are instrumental in averting catastrophic events.
Serial imaging assessment by radiologists is an important component in the
management of these patients.
Keywords: aorta • cardiovascular disease • CT angiography • genetics • head and neck imaging • Loeys-Dietz syndrome
Introduction
In 2005, Loeys et al. [1],
Dietz, and others described a new syndrome caused by heterozygous mutations in
the genes encoding type I or II transforming growth factor-ß (TGF-ß)
receptor. They identified a number of families with similar multisystem
abnormalities, in whom an increase in TGF-ß signaling results in
phenotypes closely resembling Marfan syndrome, Marfanoid craniosynostosis
syndrome (Shprintzen-Goldberg syndrome), and vascular Ehlers-Danlos syndrome
[1,
2]. However, Loeys-Dietz
syndrome is characterized by a unique constellation of clinical and pathologic
manifestations [1,
2].
Since the original report, two subtypes of Loeys-Dietz syndrome have been
delineated [2]. Loeys-Dietz
syndrome type I patients have both craniofacial and vascular disorders. The
most characteristic craniofacial findings are hypertelorism and broad or bifid
uvula or cleft palate, two of the three components of the clinical triad that
also includes arterial aneurysms and tortuosity
[2]. In contradistinction,
Loeys-Dietz syndrome type II patients may have a bifid uvula but do not have a
cleft palate, craniosynostosis, or hypertelorism
[2]. Surgical intervention is
needed and death occurs at a later age in Loeys-Dietz syndrome type II than in
Loeys-Dietz syndrome type I patients
[2]. In fact, the
cardiovascular outcome of Loeys-Dietz syndrome can be predicted by a
"craniofacial severity index"
[2] that is based on presence
of cleft palate and craniosynostosis, the degree of increased intraocular
distance, and the uvular configuration
[2].
Additional manifestations of Loeys-Dietz syndrome include blue sclera,
malar hypoplasia, exotropia, and retrognathia
[1]. Cervical spine
instability, pectus deformity, arachnodactyly, craniosynostosis, scoliosis,
and joint laxity are some of the many musculoskeletal manifestations
[1,
2]. The pronounced tortuosity
of the arteries (Figs. 1A,
1B, and
1C) in Loeys-Dietz syndrome is
a finding not frequently identified in the general population
[2]. Aneurysms have been
identified throughout the arterial system, with an increased propensity for
rupture or dissection [1,
2]. In addition, Loeys-Dietz
syndrome patients may be afflicted with congenital cardiac anomalies
[1,
2].
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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).
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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).
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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).
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Cardiovascular Manifestations of Loeys-Dietz Syndrome Versus Marfan Syndrome and Vascular Ehlers-Danlos Syndrome
Features that distinguish Loeys-Dietz syndrome from Marfan syndrome have
been elucidated [1]. Some
phenotypic manifestations are common to both syndromes, whereas other physical
examination findings are unique to one or the other
[1,
3,
4]. Marfan syndrome results
from mutations in the FBN1 gene, and aortic root dilatation is the
leading cause of morbidity and mortality in Marfan syndrome patients
[3]. Similarly, aortic root
aneurysms (Figs. 2A,
2B,
3,
4A, and
4B) were ubiquitous in both
series of Loeys-Dietz syndrome patients described by Loeys et al.
[1,
2]. The aneurysms dissect at a
smaller size than that defined for Marfan syndrome and at an early age
[1]. Pulmonary artery
dilatation occurs in both Loeys-Dietz syndrome and Marfan syndrome
[1,
3,
4].
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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).
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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).
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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).
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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).
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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).
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After operative repair of the aortic root, Marfan syndrome patients are at
risk for distal aortic aneurysm and dissection
[3]. However, other arteries
only rarely develop aneurysms in Marfan syndrome
[1]. In contradistinction, most
(92%) Loeys-Dietz syndrome patients in the first series also had aneurysms of
other vessels [1] that are
aggressive and carry a high risk of rupture. Median survival in Loeys-Dietz
syndrome is 37 years, and the leading cause of death is dissection of the
thoracic aorta (67%), followed by abdominal aortic dissection (22%) and
intracranial bleeding (7%) [2].
From a radiologic perspective, recognition of the vascular manifestations is
essential for guiding swift management.
Distinction from vascular Ehlers-Danlos syndrome, which warrants a
conservative approach to managing asymptomatic vascular disorders, is
essential [2,
5]. Vascular Ehlers-Danlos is
an autosomal dominant condition caused by heterozygous mutations of the
COL3A1 gene [5]. The
fragility of arterial tissue makes surgical repair difficult, and some
advocate surgery only in the setting of impending arterial rupture or
life-threatening hemorrhage
[5].
The Loeys-Dietz syndrome type II phenotype resembles vascular Ehlers-Danlos
syndrome, and complications of spontaneous rupture of the spleen, bowel,
uterus, and arteries can occur in both syndromes
[2,
5]. Despite similarity between
these two syndromes, Loeys-Dietz syndrome type II patients have a much lower
incidence (
5%) of fatal complications from vascular surgery
[2]. Therefore, management of
Loeys-Dietz syndrome type II patients includes early surgical intervention for
asymptomatic arterial disorders
[2].
Serial Imaging
At our institution, serial imaging of Loeys-Dietz syndrome patients is
performed every year. Screening of known or suspected patients is well served
by MDCT, which provides detailed information about neurologic, cardiovascular,
and musculoskeletal abnormalities. Three-dimensional renderings are useful for
preoperative evaluation and visualization of orthopedic and vascular disorders
[6,
7] that are associated with
Loeys-Dietz syndrome.
This article shows the MDCT appearance of a range of vascular disorders
that may be identified in Loeys-Dietz syndrome using arterial phase 64-MDCT
with multiplanar reformation and 3D volume rendering. Our acquisition
technique includes 0.6-mm detector thickness, with 0.75-mm sections
reconstructed every 0.5 mm, for 3D-volume interrogation at a Leonardo
workstation (Siemens Medical Solutions) running InSpace software (Siemens).
The institutional review board of our institution granted an exemption for
incorporation of de-identified patient data into this Health Insurance
Portability and Accountability Act–compliant manuscript.
Thoracic Cardiovascular Pathology
Aortic root aneurysms are present in 98% of Loeys-Dietz syndrome patients
[1] (Figs.
2A,
2B,
3,
4A, and
4B). As in Marfan syndrome, the
aortic media show decreased elastin content and elastic fiber disorganization
at histologic examination [1].
The current cutoff for surgical intervention of the aortic root used at our
institution is 4 cm for adult and adolescent patients with Loeys-Dietz
syndrome because of the increased risk of rupture. In the pediatric
population, arterial diameter correlates with body surface area and changes as
a child grows, so an absolute cutoff for all children is not appropriate.
Pediatric Z-scores based on arterial measurement of healthy individuals
[8] are calculated using a
database and software developed by Steven Colan at Boston Children's Hospital.
These scores are used to delineate pathologic enlargement of both the aortic
root and the pulmonary artery. For young children with severe craniofacial
features, surgery is performed once the aortic root has a Z-score > 3
(aortic root dimension > 99th percentile) and the annulus is at least 1.8
cm [2], allowing placement of a
graft of sufficient caliber to accommodate growth.
CT interpretation should include detailed information about the caliber of
the aortic root, the ascending and descending aorta, and the pulmonary artery
(Figs. 4A and
4B). The main pulmonary artery
may be enlarged in Marfan syndrome
[3,
9] and in Loeys-Dietz syndrome
[1]. Using axial MR images, the
caliber of the pulmonary artery was measured in Marfan patients and normal
controls [9]. Analysis of the
normal controls established the upper limit of normal on axial sections to be
34.8 mm for the pulmonary root and 28 mm for the pulmonary artery bifurcation
[9]. Of note, the controls in
this study had a mean age of 28 years
[9], making these numbers
nonapplicable to a pediatric population. Instead, Z-scores are used for
children and calculated using a formula that incorporates the body surface
area, diameter measurement, mean expected for the subject, and the SD
[10].
Other thoracic cardiovascular findings that have been identified in
Loeys-Dietz syndrome include coronary artery aneurysms (Figs.
5,
6A, and
6B) and aneurysms of the
pulmonary artery, ductus, and subclavian (Figs.
7A and
7B) arteries
[1]. Congenital cardiac
anomalies associated with Loeys-Dietz syndrome include patent ductus
arteriosus (Figs. 2A and
2B), bicuspid aortic valve,
bicuspid pulmonary valve, mitral valve prolapse, and atrial septal defect
[1,
2].
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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.
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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.
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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.
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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.
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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.
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Head and Neck Arteries
Arterial tortuosity of the extracranial carotid and vertebral arteries can
be pronounced (Figs. 8A,
8B,
9A, and
9B). In one case, tortuosity
and dilatation of cerebral vessels resulted in deafness
[1]. Head and neck aneurysms
occur in 10% of patients [2],
including intracranial aneurysms and aneurysms of the retinal vessels
[1].
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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.
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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.
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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.
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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.
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Abdominal Aorta and Branch Vessels
In Loeys-Dietz syndrome, abdominal aortic aneurysms have been identified in
10% of patients, and branch vessels aneurysms are present in 7%
[1,
2]. The mesenteric arterial
aneurysms can be large (Figs.
10A,
10B,
11A,
11B, and
11C); aneurysms may also
involve the iliac arteries (Figs.
11A,
11B, and
11C) and run-off vessels
(Figs. 12A,
12B, and
12C).
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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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Conclusion
Cognizance of this spectrum of clinical and pathologic manifestations is
essential to identify and manage Loeys-Dietz syndrome. Early diagnosis of
aneurysms and timely surgical intervention are instrumental in averting
catastrophic vascular events. Radiologists will play an integral role in
serial assessment of the arterial system to facilitate management of these
patients.
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Abstract
Introduction
