The most common cause of death in patients with type IV Ehlers-Danlos syndrome is:
Ehlers-Danlos syndrome includes a spectrum of inherited connective tissue disorders of collagen synthesis. The subtypes represent differing defective steps of collagen production. Vascular type Ehlers-Danlos syndrome is characterized by an autosomal dominant defect in type III collagen synthesis, which can have life-threatening cardiovascular manifestations. Spontaneous arterial rupture, usually involving the mesenteric vessels, is the most common cause of death in these patients. Thoracic aortic aneurysms and dissections are less commonly associated with Ehlers-Danlos syndrome, but when they do occur, they pose a particularly challenging surgical problem because of the reduced integrity of the aortic tissue. An Ehlers-Danlos variant of periventricular heterotopia associated with joint and skin hyperextensibility and aortic dilation has been described as being caused by mutations in the gene encoding filamin A (FLNA), an actin-binding protein that links the smooth muscle cell contractile unit to the cell surface.
The most common presenting symptom in patients with an ascending thoracic aneurysm is:
Initially, aneurysmal expansion and impingement on adjacent structures causes mild, chronic pain. The most common symptom in patients with ascending aortic aneurysms is anterior chest discomfort; the pain is frequently precordial in location but may radiate to the neck and jaw, mimicking angina. Aneurysms of the ascending aorta and transverse aortic arch can cause symptoms related to compression of the superior vena cava, the pulmonary artery, the airway, or the sternum. Rarely, these aneurysms erode into the superior vena cava or right atrium, causing acute high-output failure.
Endoleaks:
Another significant complication of descending thoracic aortic stent grafting is endoleak. An endoleak occurs when there is a persistent flow of blood (visible on radiologic imaging) into the aneurysm sac, and it may occur during the initial procedure or develop over time. Although endoleaks are a relatively common complication, they are not benign, because they lead to continual pressurization of the sac, which can cause expansion or even rupture. These complications are categorized (Table below) according to the site of the leak. Although all endoleaks may progress such that they can be considered life-threatening, type I and type III endoleaks generally necessitate early and aggressive intervention. Recently published reporting guidelines aid standardized reporting.
Classification of and common treatment strategies for endoleak:
The most useful imaging study for thoracic aneurysms is:
Computed tomographic ( CT) scanning is widely available, provides visualization of the entire thoracic and abdominal aorta, and permits multiplanar and 3-dimensional aortic reconstructions. Consequently, CT is the most commonand arguably the most useful-imaging modality for evaluating thoracic aortic aneurysms. In addition to establishing the diagnosis, CT provides information about an aneurysm's location, extent, anatomic anomalies, and relationship to major branch vessels. CT is particularly useful in determining the absolute diameter of the aorta, especially in the presence of a laminated clot, and also detects aortic calcification.
A patient with Marfan syndrome who has undergone "aortic surgery" most likely had:
Mechanical prostheses necessitate following a lifelong anticoagulation regimen. Separate replacement of the aortic valve and ascending aorta is not performed in patients with Marfan syndrome, because progressive dilatation of the remaining sinus segment eventually leads to complications that necessitate reoperation. Therefore, patients with Marfan syndrome or those with annuloaortic ectasia require some form of aortic root replacement.
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