General
Advanced age
Arteriosclerosis
Arterial hypertension
Genetic aortic syndromes (monogenetic diseases)
Nonsyndromic
Familial thoracic aortic aneurysm syndrome caused by mutations in the following genes
ACTA2
MYH11
MMP3
MMP9
SMAD3
Syndromic
Marfan syndrome (FBN1)
Loeys-Dietz syndrome (TGFBR1/TGFBR2)
Aneurysms-osteoarthritis syndrome (SMAD3)
Vascular Ehlers-Danlos syndrome (COL3A1)
Polycystic kidney disease (PKD1, PKD2)
Osteogenesis imperfecta (COL1A1, COL1A2)
Noonan syndrome
Turner syndrome
Congenital anomalies
Congenital heart anomalies, isolated
Bicuspid aortic valve
Aortic coarctation
Conotruncal abnormalities
Status post operationem
For example:
after Ross operation
after arterial switch operation
Complex syndromes
Turner syndrome
Williams-Beuren syndrome
Noonan syndrome
Miscellaneous
Infections
For example:
HIV
Staphylococcus species
Salmonella
Mycobacterium (Tbc)
Mycotic aneurysm
Aortitis/inflammatory diseases
For example:
Giant cell arteritis, rheumatoid arthritis, lupus erythematosus, ankylosing spondylitis, Behçet’s disease, Wegener’s granulomatosis, Takayasu’s arteritis, retroperitoneal fibrosis (Ormond’s disease)
Trauma/strenuous activities
Deceleration injury
Weight lifting
Pregnancy
Peripartum
Iatrogenic dissections
Catheters and guidewires
Status post operationem (after aortotomy, vascular clamp)
Drugs
Chronic corticosteroid
Cocaine
4.2 Silent Aortic Syndrome (SAS)
The clinical diagnosis of aortopathy largely depends on recognition of aortic dilatation (SAS) prior to the development of acute complication (AAS) like dissection or rupture, as well as organ involvement from complications. Clinical suspicion is crucial, as usually the growth of aortic aneurysm is asymptomatic until aortic complications occur.
The diagnostic approach to the diagnosis of aortopathies incorporates primarily the clinical impression, the medical history, and the results of the physical examination.
A comprehensive medical history is useful in consideration of disorders connected with aortic aneurysm. The review of risk factors for aortic disease includes family history, disorders at risk for aortic involvement, and congenital heart defects but also arteriosclerosis, arterial hypertension, specific infections, or inflammatory disease (Table 4.2) [6].
Finding | Explanation |
|---|---|
Symptoms | |
Chest pain | Location is also possible in the back, shoulders |
Dyspnea and shortness of breath | Usually only mild and felt as substernal oppression, rarely due to oppression of the trachea or bronchi |
Cough | Linked to involvement of recurrent laryngeal nerve |
Upper venous congestion | Oppression of vessels such as the superior vena cava, the pulmonary artery, or the innominate vein can lead to visible enlargement of the veins, cyanosis, and swelling of upper extremity |
Hoarseness and dysphonia | Injury of the recurrent laryngeal nerve |
Dysphagia | Esophageal compression by aneurysm; symptom is closely allied to dysphonia |
Horner’s syndrome | Ptosis, miosis, and exophthalmus due to paralysis of the superior cervical ganglion |
Atypical | Loss of weight and appetite, palpitations, fever, cyanosis |
Physical signs | |
Pulsatile sternum | Due to a large retrosternal aneurysm |
Tracheal tug (Oliver-Cardarelli sign) | Aneurysm of the ascending aorta and the aortic arch. This tracheal tug consists of a pulsation of the larynx to one side synchronous with ventricular systole, which can be felt in the upright patient when the larynx is palpated between the thumb and index finger |
Dullness on percussion | Sub- and parasternal dullness in proximal aortic aneurysms and left interscapular or left subscapular dullness |
Aortic diastolic murmur | Due to aortic valve regurgitation |
Palpation of epigastric mass | Abdominal aneurysm |
It is of vital importance to identify individuals with GAS early before AAS develops. For example, Marfan syndrome can be identified according to typical stigmata, where prediction models are available to identify Marfan syndrome with the help of simple clinical signs such as skin striae or arachnodactyly. Similarly, Loeys-Dietz syndrome may be suspected in persons with a bifid uvula.
An educated physical examination may help to detect marked aneurysm still in the asymptomatic state (SAS). The occasional patient with marked thoracic aneurysm may experience dysphagia from esophageal compression, hoarseness from injury of the recurrent laryngeal nerve, cough, shortness of breath, and back pain. Moreover, a pulsatile sternum can indicate a retrosternal aneurysm.
Sometimes in aneurysm of the ascending aorta and the aortic arch, the Oliver-Cardarelli sign occurs. This tracheal tug consists of a pulsation of the larynx to one side synchronous with ventricular systole, which can be felt in the upright patient when the larynx is palpated between the thumb and index finger.
This basic diagnostic armamentarium has meanwhile been supplemented by sophisticated modern imaging techniques, particularly advanced echo, MRI, and CT techniques, which have improved the clinical diagnosis substantially. Each method has relative advantages and disadvantages, but all have high sensitivity and specificity.
4.2.1 Thoracic Aortic Aneurysm (TAA)
The aneurysm of the sinuses of Valsalva that previously had been described as anulo-aortic ectasia denotes a dilatation of the proximal aorta at the level of the aortic root that may transcend the aortic ridge and involve also the ascending part of the aorta. Clinically, ectasia (dilatation) is defined by a transverse diameter exceeding 1.5 times the expected size. Proximal aortic aneurysm was also identified with diameters of the aorta, which is at least 50 % larger than normal [6, 12].
Assessing the absolute size of the aorta, it is reasonable to refer the diameter to body size, weight, and body surface area, as well as the gender and age of a person.
As a rule of thumb, in an average-sized adult, an aortic aneurysm is an enlargement of at least 4.0 cm in diameter, and usually the abdominal aorta is as thick as the patient’s thumb.
Ectasia (dilatation) or aneurysm formation of the aortic root is often seen in patients with congenital heart anomalies, such as bicuspid aortic valve (BAV) or coarctation of the aorta (CoA), or with GAS, such as Marfan, Loeys-Dietz, and Ehlers-Danlos syndrome.
4.2.1.1 Clinical Presentation of Thoracic Aortic Aneurysm (TAA)
Most thoracic aortic aneurysms are asymptomatic and may be diagnosed incidentally on echo or chest X-ray, or if compression of adjacent structures occur or complications develop, e.g., dissection and rupture.
Thoracic aneurysms are rarely diagnosed by physical examination (Table 4.2).
Chest pain is not uncommon in patients with aneurysmal dilatation of the aortic anulus, chronic aortic dilatation, aortic wall thinning, and aortic distension [13].
Physical findings may be absent, but signs and symptoms may appear from mass effect. Once the dilated aorta compresses adjacent structures (e.g., superior vena cava, esophagus, trachea, or recurrent laryngeal nerve), a superior vena cava syndrome, stridor, dysphagia, or hoarseness may occur.
Progressive ectasia of the aortic root and aortic sinuses can lead to aortic valve regurgitation. Narrowing of the coronary artery ostia may lead to myocardial ischemia and even infarction. A sluggish blood flow can predispose to atheroma, thrombus formation, and peripheral embolization.
4.3 Acute Aortic Syndrome (AAS)
For the identification of patients at risk for acute aortic syndrome (AAS), the early clinical detection of aortopathies is of outstanding importance. Only timely discovery provides the chance to induce prophylactic or therapeutic measures.
Pain is the central feature of an AAS which comprises aortic dissection (AD), intramural hematoma (IMH), and penetrating atherosclerotic ulcer (PAU) (Fig. 4.1) [4, 7]. Among these disorders, AD occurs more often (62–88 % of all patients with AAS) than IMH (10–30 %) and PAU (2–8 %) [7].
Fig. 4.1
Aortic pathologies that all cause acute aortic syndrome (AAS): schematic of aortic dissection (left), intramural hematoma (middle), and penetrating ulcer (right) (From: Elefteriades JA. Thoracic aortic aneurysm: reading the enemy’s playbook. Current problems in cardiology 2008;33:203–77) [4]
Acute aortic pain is caused by aortic distention or disruption due to tears, intramural hematoma, dissection, ulceration, or rupture, while chronic aortic pain is associated with aortic dilatation, distension, and dissection [13].
The annual incidence of AAS is not so high, but mortality is extreme and the most frequently fatal condition for patients with chest pain [16].
4.3.1 Overt Aortic Dissection (OAD)
Acute aortic dissection results from a tear in the aortic intima. Blood enters through this tear into the medial layer of the aortic wall, propagates along the media, and forms a second blood-filled channel within the aortic wall, resulting in a “true lumen” and the “false lumen,” a channel within the media (Figs. 4.1 and 4.2) [17].
Fig. 4.2
Aortic dissection according to the DeBakey and Stanford classifications
Stanford-classification
Type A: All dissections involving the ascending aorta, regardless of the site of origin
Type B: Dissection does not involve the ascending aorta
DeBakey classification
Type I: Dissection originates in the ascending aorta and propagates at least to the aortic arch
Type II: Dissection originates in the ascending aorta and involves only the ascending aorta
Type III: Dissection originates in the descending aorta and propagates down the aorta (rarely retrogrades to the aortic arch and the ascending aorta) (From Ref. [17])
Elderly hypertensive individuals (> 65 years), particularly male, are predisposed. Risk factors for OAD in patients < 40 years of age are connective tissue disorders (e.g., Marfan, Loeys-Dietz, Ehlers-Danlos, Turner syndrome) or congenital heart anomalies (e.g., aortic coarctation, bicuspid aortic valve disease) [7] Fig. 4.3.
Fig. 4.3
Guideline-based evaluation pathway for the identification of acute aortic dissection at initial presentation [47, 18, 40]. (ACS acute coronary syndrome, ADD aortic dissection detection, BP blood pressure, CNS central nervous system, CT computed tomography, CXR chest X-ray, MRI magnetic resonance imaging, STEMI ST segment elevation myocardial infarction, TEE transesophageal echocardiogram) (From Ref. [47])
4.3.1.1 Clinical Presentation of Overt Aortic Dissection (OAD)
Clinical criteria for aortic dissection are poorly defined (Table 4.3) [18].
Table 4.3
Clinical signs and symptoms in acute aortic syndrome/aortic dissection (AAS)
Comment | |||
|---|---|---|---|
Pain | Location | Chest, anterior | Site may relate vaguely to the involved section of the aorta |
Chest, posterior | |||
Neck | |||
Back | |||
Epigastrium | |||
Abdomen | |||
Legs | |||
Onset | Acute, abrupt | Acute or increasing pain suggests expansion with the risk of dissection | |
Increasing | |||
Chronic | |||
Type | Intense, often tearing or sharp | Maximum at the time of dissection. | |
n.b.: Dissection may be painless | |||
Blood pressure | Hypertensive | ||
Normotensive | |||
Hypotensive | |||
Shock | |||
n.b.: Pseudo-hypotension due to peripheral vascular problems | |||
Acute aortic regurgitation
 Stay updated, free articles. Join our Telegram channel
Full access? Get Clinical Tree
Get Clinical Tree app for offline access
| |||