During pregnancy, prenatal ultrasound may reveal the abnormal course of the arch. On chest radiography, a right-sided aortic arch is visualized by the aortic knob (the prominent shadow of the aortic arch) that is located right from the sternum instead of left. Complex lesions are often assessed by MRI or CT.

A right-sided aortic arch does not cause symptoms on itself, however when it is accompanied by other vascular abnormalities, it may form a vascular ring, causing symptoms due to compression of the trachea and/or esophagus.

It can be diagnosed with an echocardiogram. Patients will have a loss of appetite, turn pale, may feel cold in the lower half of the body due to not enough blood flow.

In mild cases, children may show no signs or symptoms at first and their condition may not be diagnosed until later in life. Some children born with coarctation of the aorta have other heart defects too, such as aortic stenosis, ventricular septal defect, patent ductus arteriosus or mitral valve abnormalities.

Coarctation is about twice as common in boys as it is in girls. It is common in girls who have Turner syndrome.

Symptoms may be absent with mild narrowings (coarctation). When present, they include: difficulty breathing, poor appetite or trouble feeding, failure to thrive. Later on, children may develop symptoms related to problems with blood flow and an enlarged heart. They may experience dizziness or shortness of breath, faint or near-fainting episodes, chest pain, abnormal tiredness or fatigue, headaches, or nosebleeds. They have cold legs and feet or have pain in their legs with exercise (intermittent claudication).

In more severe cases, where severe coarctations, babies may develop serious problems soon after birth because not enough blood can get through the aorta to the rest of their body.

Arterial hypertension in the arms with low blood pressure in the lower extremities is classic. In the lower extremities, weak pulses in the femoral arteries and arteries of the feet are found.

The coarctation typically occurs after the left subclavian artery. However, if situated before it, blood flow to the left arm is compromised and asynchronous or radial pulses of different "strength" may be detected (normal on the right arm, weak or delayed on the left), termed "radio-radial delay". In these cases, a difference between the normal radial pulse in the right arm and the delayed femoral pulse in the legs (either side) may be apparent, whilst no such delay would be appreciated with palpation of both delayed left arm and either femoral pulses. On the other hand, a coarctation occurring after the left subclavian artery will produce synchronous radial pulses, but "radio-femoral delay" will be present under palpation in either arm (both arm pulses are normal compared to the delayed leg pulses).

Double aortic arch (DAA) is a relatively rare congenital cardiovascular malformation. DAA is an of the aortic arch in which two aortic arches form a complete vascular ring that can compress the trachea and/or esophagus. Most commonly there is a larger (dominant) right arch behind and a smaller (hypoplastic) left aortic arch in front of the trachea/esophagus. The two arches join to form the descending aorta which is usually on the left side (but may be right-sided or in the midline). In some cases the end of the smaller left aortic arch closes (left atretic arch) and the vascular tissue becomes a fibrous cord. Although in these cases a complete ring of two patent aortic arches is not present, the term ‘vascular ring’ is the accepted generic term even in these anomalies.

The symptoms are related to the compression of the trachea, esophagus or both by the complete vascular ring. Diagnosis can often be suspected or made by chest x-ray, barium esophagram, or echocardiography. Computed tomography (CT) or magnetic resonance imaging (MRI) show the relationship of the aortic arches to the trachea and esophagus and also the degree of tracheal narrowing. Bronchoscopy can be useful in internally assessing the degree of tracheomalacia. Treatment is surgical and is indicated in all symptomatic patients. In the current era the risk of mortality or significant morbidity after surgical division of the lesser arch is low. However, the preoperative degree of tracheomalacia has an important impact on postoperative recovery. In certain patients it may take several months (up to 1–2 years) for the obstructive respiratory symptoms (wheezing) to disappear.

There are three types of aortic coarctations:

1. Preductal coarctation: The narrowing is proximal to the ductus arteriosus. Blood flow to the aorta that is distal to the narrowing is dependent on the ductus arteriosus; therefore severe coarctation can be life-threatening. Preductal coarctation results when an intracardiac anomaly during fetal life decreases blood flow through the left side of the heart, leading to hypoplastic development of the aorta. This is the type seen in approximately 5% of infants with Turner syndrome.

2. Ductal coarctation: The narrowing occurs at the insertion of the ductus arteriosus. This kind usually appears when the ductus arteriosus closes.

3. Postductal coarctation: The narrowing is distal to the insertion of the ductus arteriosus. Even with an open ductus arteriosus, blood flow to the lower body can be impaired. This type is most common in adults. It is associated with notching of the ribs (because of collateral circulation), hypertension in the upper extremities, and weak pulses in the lower extremities. Postductal coarctation is most likely the result of the extension of a muscular artery (ductus arteriosus) into an elastic artery (aorta) during fetal life, where the contraction and fibrosis of the ductus arteriosus upon birth subsequently narrows the aortic lumen.

Aortic coarctation and aortic stenosis are both forms of aortic narrowing. In terms of word root meanings, the names are not different, but a conventional distinction in their usage allows differentiation of clinical aspects. This spectrum is dichotomized by the idea that aortic coarctation occurs in the aortic arch, at or near the ductus arteriosis, whereas aortic stenosis occurs in the aortic root, at or near the aortic valve. This naturally could present the question of the dividing line between a postvalvular stenosis and a preductal coarctation; nonetheless, the dichotomy has practical use, as most defects are either one or the other.

About 96% of individuals with aortic dissection present with severe pain that had a sudden onset. The pain may be described as a tearing, stabbing, or sharp sensation; 17% of individuals feel the pain migrate as the dissection extends down the aorta. The location of pain is associated with the location of the dissection. Anterior chest pain is associated with dissections involving the ascending aorta, while interscapular (back) pain is associated with descending aortic dissections. If the pain is pleuritic in nature, it may suggest acute pericarditis caused by bleeding into the pericardial sac. This is a particularly dangerous eventuality, suggesting that acute pericardial tamponade may be imminent. Pericardial tamponade is the most common cause of death from aortic dissection.

While the pain may be confused with the pain of a myocardial infarction (heart attack), aortic dissection is usually not associated with the other signs that suggest myocardial infarction, including heart failure and ECG changes.

Individuals with aortic dissection who do not present with pain have a chronic dissection.

Less common symptoms that may be seen in the setting of aortic dissection include congestive heart failure (7%), fainting (9%), stroke (6%), ischemic peripheral neuropathy, paraplegia, and cardiac arrest. If the individual had a fainting episode, about half the time it is due to bleeding into the pericardium leading to pericardial tamponade.

Neurological complications of aortic dissection (i.e., stroke and paralysis) are due to the involvement of one or more arteries supplying portions of the central nervous system.

If the aortic dissection involves the abdominal aorta, compromise of the branches of the abdominal aorta is possible. In abdominal aortic dissections, compromise of one or both renal arteries occurs in 5–8% of cases, while mesenteric ischemia (ischemia of the large intestines) occurs 3–5% of the time.

Symptoms are caused by vascular compression of the airway, esophagus or both. Presentation is often within the first month (neonatal period) and usually within the first 6 months of life. Starting at birth an inspiratory and expiratory stridor (high pitch noise from turbulent airflow in trachea) may be present often in combination with an expiratory wheeze. The severity of the stridor may depend on the patient’s body position. It can be worse when the baby is lying on his back rather than its side. Sometimes the stridor can be relieved by extending the neck (lifting the chin up). Parents may notice that the baby’s cry is hoarse and the breathing noisy. Frequently a persistent cough is present. When the airway obstruction is significant there may be episodes of severe cyanosis (“blue baby”) that can lead to unconsciousness. Recurrent respiratory infections are common and secondary pulmonary secretions can further increase the airway obstruction.

Secondary to compression of the esophagus babies often feed poorly. They may have difficulties in swallowing liquids with choking or regurgitating and increased respiratory obstruction during feeding. Older patients might refuse to take solid food, although most infants with severe symptoms nowadays are operated upon before they are offered solid food.

Occasionally patients with double aortic arches present late (during later childhood or adulthood). Symptoms may mimic asthma.

Supravalvular aortic stenosis is associated with genetic damage at the Elastin gene locus on chromosome 7q11.23. Fluorescent in situ hybridisation techniques have revealed that 96% of patients with Williams syndrome, where supravalvular aortic stenosis is characteristic, have a hemizygous deletion of the Elastin gene. Further studies have shown that patients with less extensive deletions featuring the Elastin gene also tend to develop supravalvular aortic stenosis

Familial aortic dissection or FAD refers to the splitting of the wall of the aorta in either the arch, ascending or descending portions. FAD is thought to be passed down as an autosomal dominant disease and once inherited will result in dissection of the aorta, and dissecting aneurysm of the aorta, or rarely aortic or arterial dilation at a young age. Dissection refers to the actual tearing open of the aorta. However, the exact gene(s) involved has not yet been identified. It can occur in the absence of clinical features of Marfan syndrome and of systemic hypertension. Over time this weakness, along with systolic pressure, results in a tear in the aortic intima layer thus allowing blood to enter between the layers of tissue and cause further tearing. Eventually complete rupture of the aorta occurs and the pleural cavity fills with blood. Warning signs include chest pain, ischemia, and hemorrhaging in the chest cavity. This condition, unless found and treated early, usually results in death. Immediate surgery is the best prognosis in most cases. FAD is not to be confused with PAU (penetrating atherosclerotic ulcers) and IMH (intramural hematoma), both of which present in ways similar to that of familial aortic dissection.

People with an aortic dissection often have a history of high blood pressure; the blood pressure is quite variable at presentation with acute aortic dissection, and tends to be higher in individuals with a distal dissection. In individuals with a proximal aortic dissection, 36% present with hypertension, while 25% present with hypotension. Proximal aortic dissections tend to be more associated with weakening of the vascular wall due to cystic medial degeneration. In those who present with distal (type B) aortic dissections, 60-70% present with high blood pressure, while 2-3% present with low blood pressure.

Severe hypotension at presentation is a grave prognostic indicator. It is usually associated with pericardial tamponade, severe aortic insufficiency, or rupture of the aorta. Accurate measurement of the blood pressure is important. Pseudohypotension (falsely low blood-pressure measurement) may occur due to involvement of the brachiocephalic artery (supplying the right arm) or the left subclavian artery (supplying the left arm).

Supravalvular aortic stenosis is a congenital obstructive narrowing of the aorta just above the aortic valve. It is often associated with other cardiovascular anomalies and is one of the characteristic findings of Williams syndrome. The diagnosis can be made by echocardiography or MRI.

Symptoms related to aortic stenosis depend on the degree of stenosis. Most people with mild to moderate aortic stenosis do not have symptoms. Symptoms usually present in individuals with severe aortic stenosis, though they may occur in those with mild to moderate aortic stenosis as well. The three main symptoms of aortic stenosis are loss of consciousness, anginal chest pain and shortness of breath with activity or other symptoms of heart failure such as shortness of breath while lying flat, episodes of shortness of breath at night, or swollen legs and feet. It may also be accompanied by the characteristic "Dresden china" appearance of pallor with a light flush.

This type of aneurysm is typically congenital and may be associated with heart defects. It is sometimes associated with Marfan syndrome or Loeys–Dietz syndrome, but may also result from Ehlers–Danlos syndrome, bicuspid aortic valve, atherosclerosis, hypoplastic left heart syndrome, syphilis, cystic medial necrosis, chest injury, or infective endocarditis.

Annuloaortic ectasia is a dilation of the proximal ascending aorta and aortic annulus. It may cause aortic regurgitation, thoracic aortic dissection, aneurysm and rupture. It is often associated with connective tissue diseases like Marfan syndrome and Ehlers Danlos Syndrome. It can also be a complication due to tertiary syphilis. In tertiary syphilis the aortic root becomes so dilated that the aortic valve becomes incompetent and cor bovinum results.

The term was first coined by the American heart surgeon Denton Cooley in 1961.

Interrupted aortic arch is a very rare heart defect (affecting 3 per million live births) in which the aorta is not completely developed. There is a gap between the ascending and descending thoracic aorta. In a sense it is the complete form of a coarctation of the aorta. Almost all patients also have other cardiac anomalies, including a ventricular septal defect (VSD), aorto-pulmonary window, and truncus arteriosus. Interrupted aortic arch is often associated with DiGeorge syndrome.

In many cases, a bicuspid aortic valve will cause no problems. People with BAV may become tired more easily than those with normal valvular function and have difficulty maintaining stamina for cardio-intensive activities due to poor heart performance.

Angina in setting of heart failure also increases the risk of death. In people with angina, the 5-year mortality rate is 50% if the aortic valve is not replaced.

Angina in the setting of AS occurs due to left ventricular hypertrophy (LVH) that is caused by the constant production of increased pressure required to overcome the pressure gradient caused by the AS. While the muscular layer of the left ventricle thickens, the arteries that supply the muscle do not get significantly longer or bigger, so the muscle may not receive enough blood supply to meet its oxygen requirement. This ischemia may first be evident during exercise when the heart muscle requires increased blood supply to compensate for the increased workload. The individual may complain of anginal chest pain with exertion. At this stage, a cardiac stress test with imaging may be suggestive of ischemia.

Eventually, however, the heart muscle will require more blood supply at rest than can be supplied by the coronary artery branches. At this point there may be signs of "ventricular strain pattern" (ST segment depression and T wave inversion) on the EKG, suggesting subendocardial ischemia. The subendocardium is the region that is most susceptible to ischemia because it is the most distant from the epicardial coronary arteries.

Aberrant subclavian artery, or aberrant subclavian artery syndrome, is a rare anatomical variant of the origin of the right or left subclavian artery. This abnormality is the most common congenital vascular anomaly of the aortic arch, occurring in approximately 1% of individuals.

If unruptured, this type of aneurysm may be asymptomatic and therefore go undetected until symptoms appear or medical imaging is performed for other reasons. A ruptured aneurysm typically leads to an aortocardiac shunt and progressively worsening heart failure.

An aneurysm of the aortic sinus may rupture due to infective endocarditis involving the aortic wall and tertiary-stage syphilis.

The manifestations appear depending on the site where the sinus has ruptured. For example, if the sinus ruptures in a low pressure area like the right atrium or right ventricle then a continuous type of murmur is heard. The murmur is located in the left parasternal region mainly confined to the lower sternum. It is also accompanied by a superficial thrill. A ruptured Sinus of Valsalva abscess represents a surgical emergency.

BAV frequently leads to significant complications in over one-third of affected individuals which often lead to significant morbidity and mortality. Notable complications of BAV include narrowing of the aortic valve opening, backward blood flow at the aortic valve, dilation of the ascending aorta, and infection of the heart valve.

Shone's syndrome (also called Shone's Complex, Shone's Anomaly)is a rare congenital heart disease described by Shone in 1963. In the complete form, four left-sided defects are present:

- Supravalvular mitral membrane (SVMM)

- Parachute mitral valve

- Subaortic stenosis (membranous or muscular)

- Coarctation of the aorta

Of these four defects, supravalvular mitral membrane (SVMM) is the first to occur, and triggers the development of the other three defects. Partial complexes, or form fruste, have also been described. The definition is often expanded to include lesions of the left side of the heart not originally ascribed to Shone's syndrome, including mitral and aortic valvular lesions and supravalvular aortic stenosis.

The term parachute mitral valve stems from the morphological appearance of the valve; that is to say, the mitral valve leaflets appear as the canopy of the parachute, the chordae as the strings and the papillary muscle as the harness.

There is considerable variability in the phenotype of Loeys–Dietz syndrome, from mild features to severe systemic abnormalities. The primary manifestations of Loeys–Dietz syndrome are arterial tortuosity (winding course of blood vessels), widely spaced eyes (hypertelorism), wide or split uvula, and aneurysms at the aortic root. Other features may include cleft palate and a blue/gray appearance of the white of the eyes. Cardiac defects and club foot may be noted at birth.

There is overlap in the manifestations of Loeys–Dietz and Marfan syndromes, including increased risk of ascending aortic aneurysm and aortic dissection, abnormally long limbs and fingers, and dural ectasia (a gradual stretching and weakening of the dura mater that can cause abdominal and leg pain). Findings of hypertelorism (widely spaced eyes), bifrid or split uvula, and skin findings such as easy bruising or abnormal scars may distinguish Loys-Dietz from Marfan syndrome.

Findings of Loys-Dietz syndrome may include:

- Skeletal/spinal malformations: craniosynositosis, Scoliosis, spinal instability and spondylolisthesis, Kyphosis

- Sternal abnormalities: pectus excavatum, pectus carinatum

- Contractures of fingers and toes (camptodactyly)

- Long fingers and lax joints

- Weakened or missing eye muscles (strabismus)

- Club foot

- Premature fusion of the skull bones (craniosynostosis)

- Joint hypermobility

- Congenital heart problems including patent ductus arteriosus (connection between the aorta and the lung circulation) and atrial septal defect (connection between heart chambers)

- Translucency of the skin with velvety texture

- Abnormal junction of the brain and medulla (Arnold-Chiari malformation)

- Bicuspid aortic valves

- Criss-crossed pulmonary arteries

This condition is usually asymptomatic. The aberrant artery usually arises just distal to the left subclavian artery and crosses in the posterior part of the mediastinum on its way to the right upper extremity. In 80% of individuals it crosses behind the esophagus. Such course of this aberrant vessel may cause a vascular ring around the trachea and esophagus.

Dysphagia due to an aberrant right subclavian artery is termed dysphagia lusoria, although this is a rare complication. In addition to dysphagia, aberrant right subclavian artery may cause stridor, dyspnoea, chest pain, or fever. An aberrant right subclavian artery may compress the recurrent laryngeal nerve causing a palsy of that nerve, which is termed Ortner's syndrome.

The aberrant right subclavian artery frequently arises from a dilated segment of the proximal descending aorta, the so-called Diverticulum of Kommerell (which was named for the German Radiologist, Burkhard Friedrich Kommerell (1901–1990), who discovered it in 1936). It is alternatively known as a lusorian artery.

Symptoms of aortic insufficiency are similar to those of heart failure and include the following:

- Dyspnea on exertion

- Orthopnea

- Paroxysmal nocturnal dyspnea

- Palpitations

- Angina pectoris

- Cyanosis (in acute cases)