What Are Aortopathies?
Aortopathies encompass an array of heart diseases concerned with abnormalities involving the chief artery called the aorta. Aorta is responsible for catering oxygen-loaded blood to various organs and organ systems in the body. So any ailment in the aorta reflects in the circulation and compromises the flow through the vessel.
Some aortopathies are grave and demand immediate medical attention to safeguard the person's life. It is reported to precipitate premature death. Recent study reports have cautioned about an upward trend in the incidence of aortopathies over the last few years. Many times the condition remains silent, which in turn holds up the diagnosis.
Aortopathies can either be an inborn condition or acquired. Certain other disease conditions like hypertension (enhanced blood pressure) expose one to acquired forms of aortopathies. At the same time, inborn types are often the result of deviations in the genetic makeup of the person. Inborn aortopathies may arise from an affected parent projecting a familial influence over the disease development in the subsequent generation. However, non-familial inborn aortopathies are also reported. Aortopathies can also manifest in genetic conditions like Marfan syndrome (impaired protein synthesis, which elicits troubles in the tissues, bones, organs, and muscles).
What Are the Different Types of Aortopathies?
There are two distinct categories of aortopathy conditions.
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Thoracic Aortic Enlargement: It develops in a compromised area of the aorta, denoted by remarkable ballooning of the aortic wall in that particular area. The rest of the aortic wall remains in the normal dimension while this area alone swells up. This form of discrete ballooning of the aorta is medically coined as an aortic aneurysm. Conditions like atherosclerosis (fat molecules sticking to the blood vessel wall, piling up over time) contribute to the development of thoracic aortic enlargement by incapacitating the aortic wall. It creates a platform for enlargement to occur. At times, the ballooning may breach the integrity of the blood vessel wall, giving rise to thoracic aortic dissection, where the aortic wall develops a break in the continuity and integrity. It is an alarming and grave condition that can endanger one's life.
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Thoracic Aortic Dissection: This form of aortopathies elicits dissection or break in the blood vessel, but unlike thoracic aortic enlargement, it is not the result of a preexisting aortic ballooning. A split or rip in the blood vessel's lining guides the blood to seep through the different layers and eventually creates pressure on the outer layer, which splits apart to give way for the blood to seep out of the vessel, causing internal bleeding.
What Are the Diagnostic Interventions Employed for Aortopathies?
Diagnosis of aortopathy is often challenging and misguiding. In asymptomatic patients, the findings of aortopathies were detected mostly unintentionally and by chance when the patient presented for some abdominal imaging modalities in connection with other abnormalities. In patients with evident and appreciable manifestations of aortopathy, prompt history of symptoms elicits a crucial role in diagnosis. Similarly, for individuals with known familial association with aortopathies, genetic testing to expose the alteration in the gene aids in the diagnosis of the condition. Some of the routinely employed diagnostic tests for confirming the diagnosis of aortopathies include the following:
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Echocardiogram: It is a specific form of scan that utilizes sound waves, whereby the aorta, as well as the heart, can be picturized. It allows the doctors to identify areas of irregularities, like aortic ballooning or dissection. The blood vessels' structure and anatomy can be thoroughly analyzed with the help of an echocardiogram to look for breakage or tear.
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Computed Tomography (CT): It is a widely used diagnostic procedure for determining the dimension of the aortic bulging. Computed tomography provides a clear and close view of the aortic abnormalities with the help of X-rays.
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Magnetic Resonance Imaging (MRI): It is a safer alternative to computed tomography. It employs a magnetic field to facilitate visualization of the internal structures. Magnetic resonance imaging provides a detailed view of the aortic wall layers, which aids not only in detecting aortic breaches but also throws light on the extent and severity of the vascular rupture.
What Are the Genetic Testing Modalities for Aortopathies?
Faulty genes contribute to almost 20 percent of the aortopathies. Genetic testing is being run to identify the errors in the genes that are responsible for precipitating aortopathies. These tests focus on the altered gene that exposes one to various aortopathies. Studies have identified over 50 genes that make an individual vulnerable to aortopathies. However, many more are yet to be identified.
The aorta panel, otherwise known as the DNA (deoxyribonucleic acid) screening for aortopathies, is a widely preferred testing procedure that aids in encountering the gene defect associated with aortopathies. Individuals with a positive familial association with aortopathies can undergo genetic testing to expose the hidden condition. Not all individuals with a familial association of aortopathies need to develop the condition. In such cases, genetic testing can be done to clear off the suspicion, which helps to rule out the possibility of aortopathies.
What Are the Various Treatment Interventions Available for Aortopathies?
The treatment strategies for aortopathies primarily focus on parameters like intensity, site, and extent of the aortic defect. In case of minor bulging, periodic defect monitoring is essential to track the disease progression. The routinely following treatment interventions include the following:
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Medications: If the aortopathies are in the early stage, immediate surgical exploration is not indicated. Medications are employed to tackle disease advancement. In case the patient suffers from other health conditions like hypertension, which can worsen the progression of aortopathies, medication should be advised to keep the condition under control. Anti-hypertensives, angiotensin receptor blockers, beta-blockers, and angiotensin-converting enzyme inhibitors are the frequently preferred class of drugs for the medical management of aortopathies.
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Surgery: Surgery is considered the definitive treatment strategy for aortopathies and is employed only if there is considerable impairment of the arterial wall. Ballooning of the aortic segment without a break or split is often corrected by approaching the vessel internally. However, open surgery will be undertaken when the ballooning is in an inaccessible position. In case of significant impairment of the arterial wall, surgery is initiated to cover up the weakened segment with the help of a graft, which enhances the integrity of the wall. Aortic breakage or rupture concerning the aortic valve demands correction with a new artificially fabricated valve to restore function.
Conclusion
Aortopathies represent a spectrum of aortic defects, often left untreated and undiagnosed until they progress into an alarming stage. Aortopathies predispose and enhance the susceptibility to aneurysms in the aortic artery. It can be effectively tackled with the help of timely diagnosis and appropriate treatment interventions. Surgeries offer promising results with exceptionally high prognoses and survival rates. Prompt management strategies enhance longevity and help people live quality lives with their loved ones.
