Thoracic aortic pathology refers to several diseases that are often under-diagnosed and under-treated. These are relatively rare diseases that can cause localized weakness and enlargement of the wall of the aorta (the large artery that starts from the heart and feeds the entire body), along with deterioration of the aorta’s elasticity.

This aortic enlargement and weakening can lead to a sudden tear of the inner layers of the blood-vessel wall (acute aortic dissection). This dissection can have catastrophic consequences, such as a rupturing of the entire blood vessel wall, which often leads to death. Early symptoms of this disease can be subtle and are often unrecognized until the disease presents a life-threatening emergency. When the disease is recognized early, many treatment options are available.

The results of treatment in the early stages are excellent. Emergency intervention, on the other hand, has five to 10 times the risk of disability or death. Excellent results are only possible when many experienced specialists collaborate. These specialists are typically directed by a cardiac surgeon and include cardiac anesthesiologists, vascular surgeons, radiologists, cardiologists, geneticists, and hematologists (blood specialists).

This disease is caused by a progressive loss of the strength and pliability of the aortic wall, as well as loss of its natural elasticity. This process can be initiated by many conditions, including inflammation, defects in genes controlling the formation of elastic and connective tissue (such as occurs in disorders like Marfan’s syndrome), atherosclerosis (or hardening of the vessel walls with cholesterol deposits). High blood pressure and smoking worsen the disease.

The most important avoidable risk factor is a delay in diagnosis and treatment. This can lead to a much more acute and aggressive phase when damage to the heart, brain, and body’s circulation is life threatening. Patients with hardened blood vessels (atherosclerosis) and smoking-induced lung problems (emphysema, chronic obstructive pulmonary disease) are at increased risk of aortic pathologies. Patients with genetic disorders that affect the integrity and elasticity of blood vessels (connective-tissue disorders like Marfan’s syndrome) often show localized vessel weaknesses and enlargements at a much younger age.

This family of conditions is diagnosed by non-invasive imaging technologies that allow physicians to accurately “see” and carefully measure the entire aorta and compare it to a normal one. These technologies include echocardiography (which uses ultrasound waves to image the heart and aortic root), computer tomography (CT aortography and angiography), and magnetic resonance imaging (MRI). Frequently, early diagnosis offers the option of non-invasive preventive therapy aimed at slowing the disease’s progression, rather than surgery. Close observation and imaging follow-up directed by a specialist is always needed to assess the effectiveness of the treatment.

Because of its location at the root of the heart and its proximity to such critical organs, untreated aortic pathology can ultimately result in shock from low blood pressure, hemorrhage (bleeding), or fluid collection impinging on heart function (tamponade).

Also common are inadequate blood flow to the heart (ischemia), a leakage of blood from the aorta back into the heart (insufficiency), and disturbances of circulation to the brain and body. These complications can cause heart failure and permanent damage to the body and brain. When not treated promptly, large aneurysms or the resultant disruption of the aorta (acute dissection) can lead to death.

Quitting smoking and treating high blood pressure, elevated cholesterol, and cardiovascular disease are critical to preventing and slowing progress of the disease. For those with the disease, close follow-up with a specialist is vital.