Bicuspid aortic valves are the most common cardiac valvular anomaly, occurring in 1–2% of the general population. It is twice as common in males as in females.

Bicuspid aortic valve is a heritable condition, with a demonstrated association with mutations in the NOTCH1 gene. Its heritability (formula_1) is as high as 89%. Both familial clustering and isolated valve defects have been documented. The incidence of bicuspid aortic valve can be as high as 10% in families affected with the valve problem..Recent studies suggest that BAV is an autosomal dominant condition with incomplete penetrance. Other congenital heart defects are associated with bicuspid aortic valve at various frequencies, including coarctation of the aorta.

Right-sided aortic arch is rare, with a prevalence among adults of about 0.01%.

Complete vascular rings represent about 0.5-1% of all congenital cardiovascular malformations. The majority of these are double aortic arches.

There is no known gender preference, i.e. males and females are about equally affected. There is also no known ethnic or geographic disposition.

Associated cardiovascular anomalies are found in 10-15% of patients. These include:

- Atrial septal defect (ASD)

- Ventricular septal defect (VSD)

- Patent ductus arteriosus (PDA)

- Tetralogy of Fallot (ToF)

- Transposition of the great arteries (D-TGA)

The risk of death in individuals with aortic insufficiency, dilated ventricle, normal ejection fraction who are asymptomatic is about 0.2 percent per year. Risk increases if the ejection fraction decreases or if the individual develops symptoms.

Individuals with chronic (severe) aortic regurgitation follow a course that once symptoms appear, surgical intervention is needed. AI is fatal in 10 to 20% of individuals who do not undergo surgery for this condition. Left ventricle dysfunction determines to an extent the outlook for severity of aortic regurgitation cases.

Tetralogy of Fallot occurs approximately 400 times per million live births and accounts for 7 to 10% of all congenital heart abnormalities.

Bicuspid aortic valve abnormality is seen in 1 to 2 percent of all live births. It is associated with a number of mutations affecting Notch signalling pathway.

In a retrospective analysis of over 1,300 newborns (born between 1996 and 2006) from 24 children’s hospitals in the United States, researchers at Cincinnati Children’s Hospital in Ohio found that babies with HLHS were more likely to be born in summer months, suggesting that seasonality and environmental factors may play a significant role in causation.

Hypertension is defined when a patient's blood pressure in the arm exceeds 140/90 mmHg under normal conditions. This is a severe problem for the heart and can cause many other complications. In a study of 120 coarctation repair recipients done in Groningen, The Netherlands, twenty-nine patients (25%) experienced hypertension in the later years of life due to the repair. While hypertension has many different factors that lead to this stage of blood pressure, people who have had a coarctation repair — regardless of the age at which the operation was performed — are at much higher risk than the general public of hypertension later in life. Undetected chronic hypertension can lead to sudden death among coarctation repair patients, at higher rates as time progresses.

Angioplasty is a procedure done to dilate an abnormally narrow section of a blood vessel to allow better blood flow. This is done in a cardiac catheterization laboratory. Typically taking two to three hours, the procedure may take longer but usually patients are able to leave the hospital the same day. After a coarctation repair 20-60% of infant patients may experience reoccurring stenosis at the site of the original operation. This can be fixed by either another coarctectomy.

Coronary artery disease (CAD) is a major issue for patients who have undergone a coarctation repair. Many years after the procedure is done, heart disease not only has an increased chance of affecting coarctation patients, but also progresses through the levels of severity at an alarmingly increased rate. In a study conducted by Mare Cohen, MD, et al., one fourth of the patients who experienced a coarctation died of heart disease, some at a relatively young age.

Clinical criteria are used in most studies when defining recurrence of coarctation (recoarctation) when blood pressure is at a difference of >20 mmHg between the lower and upper limbs. This procedure is most common in infant patients and is uncommon in adult patients. In a study conducted by Koller et al., 10.8% of infant patients underwent recoarctations at less than two years of age while another 3.1% of older children received a recoarctation.

People who have had a coarctation of the aorta are likely to have bicuspid aortic valve disease. Between 20% and 85% of patients are affected with this disease. Bicuspid aortic valve disease is a big contributor to cardiac failure, which in turn makes up roughly 20% of late deaths to coarctation patients.

Presence of a cystic hygroma increases the risk of HLHS in a fetus.

Preexisting diabetes mellitus of a pregnant mother is a risk factor that has been described for the fetus having TGV.

Several types of right-sided aortic arch exist, the most common ones being right-sided aortic arch with aberrant left subclavian artery and the mirror-image type. The variant with aberrant left subclavian artery is associated with congenital heart disease in only a small minority of affected people. The mirror-image type of right aortic arch is very strongly associated with congenital heart disease, in most cases tetralogy of Fallot.

Unfortunately, coarctations can not be prevented because they are usually present at birth. The best thing for patients who are affected by coarctations is early detection. Some signs that can lead to a coarctation have been linked to pathologies such as Turner syndrome, bicuspid aortic valve, and other family heart conditions.

Treatment consists of open heart surgery soon after birth. Awaiting surgery, prostaglandin can be administered to keep the ductus arteriosus open, thereby allowing blood flow to the lower body. Failure to treat the condition yields a mortality rate of 90% at a median age of 4 days.

Its cause is thought to be due to environmental or genetic factors or a combination. It is associated with chromosome 22 deletions and DiGeorge syndrome.

Specific genetic associations include:

- JAG1

- NKX2-5

- ZFPM2

- VEGF

Embryology studies show that it is a result of anterior malalignment of the aorticopulmonary septum, resulting in the clinical combination of a VSD, pulmonary stenosis, and an overriding aorta. Right ventricular hypertrophy develops progressively from resistance to blood flow through the right ventricular outflow tract.

Good peer to peer support is available on Facebook. For new and existing parents The group, Transposition of the Great Arteries

For ADULT survivors of D-TGA the Facebook group Mustard or Senning Survivors, gathers several hundred global survivors in their 20s to 50s into a single community. Supporting ADULTS born with TGA that have had a Mustard, Senning, Rastelli or Nikaidoh Heart Procedure *This group is not recommended for Parents of Arterial Switch children.

DORV affects between 1% and 3% of people born with congenital heart defects.

Chromosomal abnormalities were reported in about 40% of reported cases in the medical literature.

Little is known regarding the exact causes of aortic arch anomalies. However, the association with chromosome 22q11 deletion (CATCH 22) implies that a genetic component is likely in certain cases. Esophageal atresia also occurs in some patients with double aortic arch.

It was Bex who introduced in 1980 the possibility of aortic translocation. But Nikaidoh has put the procedure in practice in 1984. It results in an anatomical normal heart, even better than with an ASO, because also the cones are switched instead of only the arteries as with an ASO.

It has as contra-indication coronary anomalies.

A PDA is sometimes idiopathic. Known risk factors include:

- Preterm birth

- Congenital rubella syndrome

- Chromosomal abnormalities (e.g., Down syndrome)

- Genetic conditions such as Loeys-Dietz syndrome (would also present with other heart defects), Wiedemann-Steiner syndrome, and CHAR syndrome.

Since the valve does not open properly in aortic stenosis, there is a decrease in the forward movement of blood into the aorta. Fetal aortic stenosis impairs left ventricular development, which can lead to hypoplastic left heart syndrome. If untreated, HLHS is lethal, as a result of the inability of the left heart to pump enough blood to sustain normal organ function. In fetal life, this is condition is manageable because the ductus arteriosus acts as a bypass, and supports the delivery of oxygenated blood to the systemic circulation. However, the ductus arteriosus closes during the first few days of life, resulting in systemic circulation failure in babies born with aortic valve stenosis.

Establishing the incidence of aortic dissection has been difficult because many cases are only diagnosed after death (which may have been attributed to another cause), and is often initially misdiagnosed. Aortic dissection affects an estimated 2.0–3.5 people per every 100,000 every year. Studies from Sweden suggest that the incidence of aortic dissection may be rising. Men are more commonly affected than women: 65% of all people with aortic dissection are male. The mean age at diagnosis is 63 years. In females before the age of 40, half of all aortic dissections occur during pregnancy (typically in the third trimester or early postpartum period).

In terms of the cause of aortic insufficiency, is often due to the aortic root dilation ("annuloaortic ectasia"), which is idiopathic in over 80% of cases, but otherwise may result from aging, syphilitic aortitis, osteogenesis imperfecta, aortic dissection, Behçet's disease, reactive arthritis and systemic hypertension. Aortic root dilation is the most common cause of aortic insufficiency in developed countries. Additionally, aortic insufficiency has been linked to the use of some medications, specifically medications containing fenfluramine or dexfenfluramine isomers and dopamine agonists. Other potential causes that affect the valve directly include Marfan syndrome, Ehlers–Danlos syndrome, ankylosing spondylitis, and systemic lupus erythematosus. In acute cases of aortic insufficiency, the main causes are infective endocarditis, aortic dissection or trauma.

Among the recognized risk factors for aortic dissection, hypertension, abnormally high levels of lipids (such as cholesterol) in the blood, and smoking tobacco are considered preventable risk factors.

Repair of an enlargement of the ascending aorta from an aneurysm or previously unrecognized and untreated aortic dissections is recommended when greater than in size to decrease the risk of dissection. Repair may be recommended when greater than in size if the person has one of the several connective-tissue disorders or a family history of a ruptured aorta.

Persistent truncus arteriosus is a rare cardiac abnormality that has a prevalence of less than 1%.

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