- “ The manifestation of vascular Ehlers-Danlos syndrome frequently involves
multiple vascular segments, with aneurysms and dissections being the most common imaging findings. The traditional practice of avoiding surgery until complications develop is being modified in select cases.”
Vascular Complications of Ehlers-Danlos Syndrome: CT Findings
Chu LC, Johnson PT, Dietz HC, Black JH, Fishman EK
AJR (2012,in press) - Ehlers-Danlos Syndrome:Vascular Pathologies
- Aneurysms (single or multiple)
- Dissections (single or multiple)
- Vessel occlusion (single or multiple) - Vascular Ehlers-Danlos Syndrome: Facts
-Previously known as type IV Ehlers-Danlos syndrome
- autosomal-dominant disorder resulting from a mutation in the COL3A1 gene encoding for type III procollagen synthesis
- Clinical diagnosis made on basis of at least two of four major criteria;
- 1. thin translucent skin
- 2. fragility or rupture of the arteries, intestines, or uterus
- 3. extensive bruising
- 4. characteristic facial appearance - Vascular Ehlers-Danlos Syndrome: Facts
- Excessive tissue fragility predisposes patients with vascular Ehlers-Danlos syndrome to premature arterial, intestinal, or uterine rupture
- More than 80% of patients will have a complication by age 40 and this complication is the first sign of disease in many cases - Vascular Imaging Protocols
-Injection protocols
-Scan acquisition protocols
-Data analysis protocols
-Final analysis and consultation - Ehlers Danlos Syndrome: Time Course of Vascular lesions
- Lesions tend to progress over time
- New lesions develop over time
- Patients with aneurysms are at risk for complications like rupture and hemoperitoneum
- Patients with progression of arterial dissection can result in vascular compromise and infarcts - Vascular Ehlers Danlos Syndrome: Complications
- Preexisting aneurysms progress over time
- New aneurysms develop over time
- Aneurysms are at risk for spontaneous rupture (chest or abdomen)
- Arterial dissection can result in vascular compromise and infarction - Vascular Ehlers Danlos Syndrome: Treatment
- Careful monitoring of imaging findings with echocardiography, CT and/or MRI
- Surgery is more complicated in these patients because of high morbidity and mortality (up to 65%) due to vessel fragility
- Embolization can be helpful in select cases but catheter angiography is associated with major complications in up to 67% of patients and mortality rates of up to 17% - Vascular Ehlers Danlos Syndrome: Stent Graft Therapy
- The current consensus is that stent graft therapy should be avoided in patients with vascular Ehlers-Danlos syndrome and in those with other connective tissue disorders
- Society of Thoracic Surgeons Endovascular Surgery Task Force. Expert consensus document on the treatment of descending thoracic aortic disease using endovascular stent-grafts.
- Svensson LG, Kouchoukos NT, Miller DC, et al.;
- Ann ThoracSurg 2008; 85(suppl 1):S1–S41 - “The elective surgical management of vascular disorders in EDS patients using open and endovascular procedures has been associated with good outcomes. Our results suggest that vascular interventions in these EDS patients can be safely performed and should not be withheld until rupture or acute symptoms arise.”
Contemporary management of vascular complications associated with Ehlers-Danlos syndrome.
Brooke BS, Amaoutakis G, McDonnell NB, Black JH III
J Vasc Surg 2010 Jan;51(1):131-8 - “ Arterial abnormalities in patients with vascular Ehlers-Danlos syndrome frequently involve multiple vascular segments. Patients
should undergo routine surveillance by noninvasive imaging of the chest, abdomen, and pelvis to monitor the progression of vascular complications. New management algorithms are being defined that support the strategy of performing surgical intervention in some patients before catastrophic complications develop.”
Vascular Complications of Ehlers-Danlos Syndrome: CT Findings
Chu LC, Johnson PT, Dietz HC, Black JH, Fishman EK
AJR (2012,in press) - “ Spontaneous coronary artery dissection usually results from extension of a dissection from the proximal aorta, which has been reported in patients with connective tissue diseases such as Marfan syndrome or Ehlers-Danlos syndrome, as well as atherosclerotic aortic dissection.”
Less Common Causes of Disease Involving the Coronary Arteries: MDCT Findings
Kim JA et al.
AJR 2011;197:125-130  - Genetic Vascular Diseases
- Marfan Syndrome
- Ehlers Danlos Syndrome
- Loeys Dietz Syndrome - “Spinal and foot abnormalities were the most clinically important skeletal findings. Eleven patients had talipes equinovarus, and nineteen patients had cervical anomalies and instability. Thirty patients had scoliosis (mean Cobb angle [and standard deviation], 30 degrees +/- 18 degrees ). Two patients had spondylolisthesis, and twenty-two of thirty-three who had computed tomography scans had dural ectasia. Thirty-five patients had pectus excavatum, and eight had pectus carinatum. Combined thumb and wrist signs were present in approximately one-fourth of the patients. Acetabular protrusion was present in approximately one-third of the patients and was usually mild.”
Musculoskeletal findings of Loeys-Dietz Syndrome
Erkula G et al.
J Bone Joint Surg Am 2010 Aug 4; 92(9);1876-1883 - “Loeys-Dietz syndrome is a recently recognized multisystemic disorder caused by mutations in the genes encoding the transforming growth factor-beta receptor. It is characterized by aggressive aneurysm formation and vascular tortuosity. We report the musculoskeletal demographic, clinical, and imaging findings of this syndrome to aid in its diagnosis and treatment.”
Musculoskeletal findings of Loeys-Dietz Syndrome
Erkula G et al.
J Bone Joint Surg Am 2010 Aug 4; 92(9);1876-1883 - “ 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.”
Loeys-Dietz Syndrome: MDCT Angiography Findings
Johnson PT, Chen JK, Loeys BL, Diets HC, Fishman EK
AJR 2007; 189:W29-W35 - “ For patients with Loeys Dietz syndrome, early diagnosis and rapid intervention are instrumental in averting catastrophic events. Serial imaging assessment by radiologists.”
Loeys-Dietz Syndrome: MDCT Angiography Findings
Johnson PT, Chen JK, Loeys BL, Diets HC, Fishman EK
AJR 2007; 189:W29-W35 - Marfans Syndrome vs Loeys-Dietz Syndrome
- Marfans has aortic root dilatation and it is the leading cause of morbidity and mortality. Loeys Dietz also has ortic root dilatation but aneurysms dissect at a smaller size and earlier age
- Pulmonary artery dilatation occurs in both Marfans syndrome and Loeys-Dietz syndrome
- Marfans patient may get extension of aortic dissection post repair while in Loeys-Dietz syndrome many other vessels are involved - Vascular Ehlers Danlos vs Loeys-Dietz Syndrome
- Loeys Dietz type II and Vascular Ehlers Danlos are similar in that spontaneous rupture of bowel, uterus and arteries can happen in both.
- Loeys Dietz patient do better with surgery than the Ehlers Danlos patients with less tha 5% mortality rate and so a more aggressive management style is usually warranted - "An international expert panel has established a revised Ghent nosology, which puts more weight on the cardiovascular manifestations and in which aortic root aneurysm and ectopia lentis are the cardinal clinical features. In the absence of any family history, the presence of these two manifestations is sufficient for the unequivocal diagnosis of MFS. In absence of either of these two, the presence of a bonafide FBN1 mutation or a combination of systemic manifestations is required. For the latter a new scoring system has been designed. In this revised nosology, FBN1 testing, although not mandatory, has greater weight in the diagnostic assessment. Special considerations are given to the diagnosis of MFS in children and alternative diagnoses in adults. We anticipate that these new guidelines may delay a definitive diagnosis of MFS but will decrease the risk of premature or misdiagnosis and facilitate worldwide discussion of risk and follow-up/management guidelines.”
- “An international expert panel has established a revised Ghent nosology, which puts more weight on the cardiovascular manifestations and in which aortic root aneurysm and ectopia lentis are the cardinal clinical features. In the absence of any family history, the presence of these two manifestations is sufficient for the unequivocal diagnosis of MFS. In absence of either of these two, the presence of a bonafide FBN1 mutation or a combination of systemic manifestations is required. For the latter a new scoring system has been designed. In this revised nosology, FBN1 testing, although not mandatory, has greater weight in the diagnostic assessment.”
The revised Ghent nosology for the Marfan Syndrome
Loeys BL, Dietz HC, Braverman AC et al
J Med Genet 2010 Jul;47(7);475-485 - “An international expert panel has established a revised Ghent nosology, which puts more weight on the cardiovascular manifestations and in which aortic root aneurysm and ectopia lentis are the cardinal clinical features. In the absence of any family history, the presence of these two manifestations is sufficient for the unequivocal diagnosis of MFS. In absence of either of these two, the presence of a bonafide FBN1 mutation or a combination of systemic manifestations is required.”
The revised Ghent nosology for the Marfan Syndrome
Loeys BL, Dietz HC, Braverman AC et al
J Med Genet 2010 Jul;47(7);475-485 - “ Established linear methods for aortic measurement yield different results that impact surgical eligibility. DO (double oblique plane) yielded improved agreement with planimetry and differed with axial in proportion to aortic geometric obliquity. Findings support DO measurements for imaging evaluation of subects with TAA.”
Impact of image analysis methodology on diagnostic and surgical classifcation of patients with thoracic aortic aneurysms
Mendoza DD et al.
Ann Thorac Surg 2011 Sep;92(3):913
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