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Genetically-Triggered Aortic Dissections
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– Easy bruising
– Characteristic facial appearance
• In the absence of family history, the diagnosis of vEDS is not often considered
until after a major event of arterial or hollow organ rupture.
• Conrmatory genetic testing is performed on cultured dermal broblasts to
examine type III collagen mRNA or genetic testing for COL3A1 pathogenic
variants.
• With vEDS, it has been suggested that genetic testing to conrm diagnosis is
essential as clinical criteria alone are inadequate to establish diagnosis. The
clinical features of vEDS overlap with other types of Ehlers-Danlos syndrome and other connective tissue conditions. In addition, the correct diagnosis of vEDS and the type of mutation of COL3A1 has serious implications on
prognosis, lifelong surveillance, and medical/surgical management decisions [40].
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Screening andSurveillance
• Individuals with vEDS have aneurysms, dissections, rupture, pseudoaneurysms,
thrombosis or carotid cavernous malformations [40]. The most severe complications arise from arterial rupture or rupture of hollow organs. Unfortunately, there
are no biomarkers or imaging criteria to accurately predict these events.
• Currently imaging surveillance and prophylactic surgery guidelines are less well
established in this population with surgery typically being reserved for lifethreatening vascular complications. This lack of guidance has led to programs
and institutions varying in their approach to surveillance that ranges from no
regular evaluations to arterial imaging on a yearly basis. Byers and colleagues
have recommended if possible annual assessment of vascular system with ultrasound, CTA or MRA [36].
• Fifty percent of those with COL3A1 pathogenic variants have a de novo mutation and the other half have an affected family member with vEDS [36].
Therefore, it is important when a new diagnosis in made in a family to screen
rst degree family members examining clinical features, imaging ndings and
genetic testing.
Management
• The major goal of pharmacotherapy is to maintain lower blood pressure and
decrease arterial wall tension in an attempt to minimize the likelihood of arterial
dissection. The medical therapy that is currently given as treatment includes
beta-blockers, angiotensin receptor blockers or combination therapy.
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• There was a trial of the mixed β1antagonist and β2 agonist, celiprolol, that suggested treatment with this drug extended time to vascular events compared to
those not treated with this medication. The conclusion from this study are weakened by the fact that a third of participants did not have COL3A1 mutations and
there was a failure to ensure those in the comparison group were equivalent in
disease severity to those in the treatment group [41]. Thus, there is not yet evidence based guidance for medical treatment in vEDS.
• Some of the arterial events in smaller arteries are self-limiting and do not require surgical intervention. Typically the location of the arterial rupture determines the method of
treatment. Surgery is typically reserved for life-threatening vascular complications
• Surgical morbidity has been historically described as high as 40%, attributed to
tissue fragility, poor wound healing, excess bleeding, stula formation, and
adhesions [38]. However, more recent, larger studies in this population have
shown improved surgical outcomes with cautionary measures in regards to tissue
handling and open repair of aneurysms/dissection is well tolerated [40].
• Similar to other connective tissue recommendations, the use of TEVAR is generally
not advised as this carries a signicant risk of erosion at the xation zones secondary to fragility of the aortic wall and concern for retrograde aortic dissection [40].
M. L. Russo and J. J. Ding
Turner Syndrome
Turner syndrome is a sex chromosome disorder caused by partial or complete
monosomy of the X chromosome in a female. It accounts for 1/2500 live female
births. Women with Turner syndrome have a 100-fold increased risk for aortic dissection compared to the general population and this adverse cardiovascular outcome
typically occurs in the third or fourth decade of life [42].
Individuals with Turner syndrome have an imbalance in TIMP and MMPs due to
hemizygosity of TIMP1. This imbalance is further exacerbated by TIMP3 risk
alleles. As a result, loss of inhibition of MMP 2 and 9 proteolytically degrade extracellular matrix of the aortic wall. This degradation releases more active TGFβ which
is normally sequestered by extracellular matrix proteins. As TGFβ activity increases,
there is more brosis and inammation and increased MMP activity which leads to
aortic aneurysm [43, 44].
Diagnosis
• Clinical features of short stature, early onset ovarian failure, metabolic and hormonal aberrations, aortic disease and congenital heart abnormalities suggest this
diagnosis [45].
Genetically-Triggered Aortic Dissections
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• Karyotype conrms the partial or complete monosomy X.
• Congenital heart abnormalities occur in up to 50% of individuals, mainly affecting the left side of the heart including bicuspid aortic valve, coarctation of the
aorta, and thoracic aortic aneurysm.
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Surveillance
• Because of the high prevalence of congenital and acquired cardiovascular disease in Turner syndrome, noninvasive cardiac imaging using echocardiogram,
cardiac magnetic resonance and computed tomography is recommended for
diagnosis, management and risk assessment [46].
• Unlike other connective tissue conditions, the predictors of aortic dissection risk
have not been extensively studied.
• The ascending aortic diameter divided by body surface area is the aortic size
index (ASI); the ASI has been used to assess risk for aortic dissection in the
Turner syndrome population [47]. The ASI >2.3 and presence of congenital
heart disease have been used to stratify individuals into higher versus lower risk
groups for aortic dissection and denes the frequency of surveillance with
imaging.
• It is important to note that women with Turner syndrome can have aortic dissection at smaller ascending aortic diameters than those with other genetic
aortopathies.
Management
• In contrast to other aortopathy conditions, the aortic size index (ASI), which
takes into account stature and body surface area, is utilized to decide when
someone should have prophylactic aortic surgery. However, there is not complete consensus on what this threshold should be for prophylactic surgery [46].
• Women with Turner syndrome are at increased risk to develop hypertension and
should be treated medically if this develops. Treatment for aortic dilatation
includes beta-blocker, angiotensin receptor blocker or combination of both.
• Women should be counseled that pregnancy may be a higher risk time for aortic
dissection. In addition, contraception counseling should be given to reproductive
age women.
• Similar to other genetic-aortopathy conditions, avoidance of intense weight
training and competitive, contact sports are not recommended if there is aortic
root dilation [46].
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M. L. Russo and J. J. Ding
Bicuspid Aortic Valve Aortopathy
Bicuspid aortic valve (BAV) is one of the most common heart defects affecting
approximately 1–2% of the U.S. population with male:female ratio of 2:1 [48]. Of
those with a bicuspid aortic valve, 40–60% of these individuals have aortic root or
ascending aorta dilatation [8, 49]. There is a six- to ninefold increases risk for aortic
complications such as dissection and rupture with bicuspid aortic valve aortopathy
compared to the general population [49]. There have been efforts to classify BAV
based on location of aortic dilation versus morphological classication to dene
distinct patterns however to date no uniform classication exists [50].
Bicuspid aortic valve aortopathy is autosomal dominant however it has decreased
penetrance and variable expressivity [51]. Despite knowledge of this being a heritable condition, the genetic pathogenic variants that results in BAV aortopathy have
not been identied in a majority of cases however there are some genes including
NOTCH1 that have been associated with predisposition for aortopathy [52, 53].
Diagnosis
• BAV aortopathy is a clinical diagnosis from transthoracic echocardiogram and
vascular imaging studies of CT and MRA
Screening andSurveillance
• As mentioned earlier, this is a heritable condition but with reduced penetrance
with this condition being present in 9% of rst degree relatives [51].
• There are many risk factors that are taken into account along with aortic root and
ascending aorta size and frequency and approach to surveillance has not been
streamlined amongst providers. An individualized plan for surveillance based on
aorta dimensions and other risk factors.
Management
• Persons with BAV aortopathy are treated with beta-blockers to normalize blood
pressure and decrease wall stress.
• There are national and international guidelines for surgical decision making
about prophylactic aortic surgery with BAV aortopathy based on aortic root size
measurements. Prophylactic surgery is to be considered with aortic root measurements >5.5cm or >5cm with other risk factors present (Table2) [54].
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• However, in clinical practice these decisions may be more complex than consideration of the aortic root size [50]. In a survey of 100 surgeons, there were differences in surgical approaches and decisions based on attitude of surgeon about the
disease and genetic versus hemodynamic etiology beliefs [55]. In addition, the
threshold sizes suggested for prophylactic surgery are not based on conclusive
data but instead expert opinion. Some authors suggest considerations of BSA,
gender, age, lifelong growth of aortic root diameter and should be taken into
account with aortic root measurements [50].
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Familial Thoracic Aortic Aneurysms
This is a group of conditions with heritable thoracic aortic aneurysms however there
are no systemic signs of disease. A majority of these pathogenic variants are autosomal dominant with reduced penetrance and variable expressivity. A majority of
altered genes are responsible for the contractile apparatus of smooth muscle cells
including pathogenic variants in the genes: ACTA2, MYH11, MYLK, and PRKG1.
The ACTA2 mutations account for 10–15% of familial thoracic aneurysms. MYH11
encodes myosin heavy chain 11 and accounts for 2% of familial thoracic aneurysms. These individuals have ascending thoracic aneurysms and there is an association with patent ductus arteriosus. MYLK encodes myosin light chain kinase and
can lead to acute aortic dissection without preceding aneurysm. PRGKG1 encodes
type I cGMP-dependent protein kinase that is responsible for smooth muscle relaxation. Pathogenic variants in this gene are associated with coronary aneurysms and
aortic dissections at younger ages. These are very rare conditions and currently
there are no formal recommendations for surveillance as aortic root dilation does
not predict these events and no formal recommendations in management.
Other Genetic Syndromes Associated withAortic Dissection
There are some other syndromes or genetic conditions associated with aortic aneurysm and dissection that should be mentioned. Arterial tortuosity syndrome is a rare
autosomal recessive condition with loss of function mutations in SLC2A10 which
encodes facilitative glucose transporter GLUT10 for glucose homeostasis. This syndrome is characterized by arterial tortuosity, stenosis of medium and large sized
arteries and a propensity for aneurysm formation and dissection. They can have
Marfanoid skeletal features or craniofacial features. Some of these individuals have
poor prognosis with mortality as high as 40% in rst 5 years of life or less severe
phenotype [56]. Autosomal dominant polycystic kidney disease and Noonan syndrome have also been associated with higher risk for aortic dissection compared to
the general population.
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M. L. Russo and J. J. Ding
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M. L. Russo and J. J. Ding
Presentation ofAcute Aortic Syndromes
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SantiTrimarchi, HectorW.L.de Beaufort, andTheodorusM.J.van Bakel
History
The majority of patients with acute aortic syndromes, especially those affecting the
distal thoracic aorta, have a history of hypertension. Other conditions in the patient’s
history that should increase the suspicion of an acute aortic syndrome are known
thoracic aneurysm, pregnancy, repaired or unrepaired coarctation of the aorta, and
aortic valve abnormalities. Moreover, connective tissue disorders and genetic
defects (Marfan, Ehlers-Danlos, Noonan, and Turner syndrome) predispose to
aneurysm and dissection.
Signs andSymptoms
The most common presenting symptom of acute aortic syndromes is pain, regardless of whether the eventual diagnosis is aortic dissection, intramural hematoma, or
symptomatic penetrating aortic ulcer. It is reported by 95.5% of acute dissection
patients, and is usually described as severe or as the worst pain ever experienced,
with a sudden onset (Table1) [1]. The abrupt onset and unremitting nature of the
pain may help to distinguish from myocardial infarction, in which the pain tends to
be more crescendo in nature. The quality of the pain is most commonly described as
S. Trimarchi (*)
Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico Milano, Milan, Italy
Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy
e-mail: santi.trimarchi@unimi.it
H. W. L. de Beaufort · T. M. J. van Bakel
Thoracic aortic research program, University of Milan, Milan, Italy
J. S. Coselli et al. (eds.), Aortic Dissection and Acute Aortic Syndromes,
https://doi.org/10.1007/978-3-030-66668-2_5
63© Springer Nature Switzerland AG 2021
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S. Trimarchi et al.
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Table 1 Pain in aortic dissection, percentage of patients who report characteristic (adapted from
Hagan etal. [
Any pain 95.5 93.8
Abrupt onset 84.8 85.4
Chest pain 72.7 78.9
Back pain 53.2 46.6
Abdominal pain 29.6 21.6
Severe or worst ever pain 90.6 90.1
Sharp pain 64.4 62.0
Tearing or ripping pain 50.6 49.4
Radiating 28.3 27.2
Migrating 16.6 14.9
1])
Type A dissection (%) Type B dissection (%)
sharp, or as a tearing or ripping sensation [1]. Intensive physical activity or involving rapid movement, such as lifting weights, chopping wood with an axe, and playing sports are sometimes mentioned as provoking factors [2].
The pain is reported in the chest, anterior and/or posterior, and in abdomen. A
proximal dissection more typically starts as anterior chest pain that progresses down
the back or even into the thighs, and a distal dissection as back pain that migrates
down into the abdomen. However, these ndings are not specic, as there is a substantial overlap in reported location of the pain. Another characteristic is radiating
or migratory pain (Fig.1) that should heighten suspicion of dissection, although this
is reported in just 16.6% of patients [1]. Abdominal pain can be a symptom of mesenteric malperfusion, which may also cause watery or bloody defecation. It is present in about 3.7% of type A dissection and 7% of type B dissection patients [3].
Increased lactate levels can help to conrm the diagnosis but take longer to develop,
so in many cases, the decision to intervene will be based on high clinical suspicion.
Abdominal pain may also be associated with renal ischemia, which is reported preoperatively in 18% of the patients, while leg pain points to peripheral malperfusion
involving the iliac and femoral arteries, reported in 9.7% of cases [3].
A small minority of dissection patients, particularly those with Marfan syndrome
or who are on steroid medication [2], as well as those with previous cardiac surgery
[4], may present without pain. In these patients, syncope or focal neurologic decits
(“giving way or collapse of the legs”) are the main presenting symptoms [4].
Overall, syncope is reported by up to 10% of patients [1]. In slightly over half of
patients, it indicates the presence of cardiac tamponade or extension of the dissection into the brachiocephalic vessels and stroke [5]. In the other half, the syncope
may be related to other pathophysiologic mechanisms, including vasovagal reactions. However, in contrast to myocardial ischemia, nausea or vomiting are less
frequent in aortic dissection [2]. If the dissection leads to obstruction of a coronary
artery, symptoms of myocardial ischemia are present. When dyspnea is present, this
is usually caused by acute severe aortic valve insufciency.
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