A VSD can be detected by cardiac auscultation. Classically, a VSD causes a pathognomonic holo- or pansystolic murmur. Auscultation is generally considered sufficient for detecting a significant VSD. The murmur depends on the abnormal flow of blood from the left ventricle, through the VSD, to the right ventricle. If there is not much difference in pressure between the left and right ventricles, then the flow of blood through the VSD will not be very great and the VSD may be silent. This situation occurs a) in the fetus (when the right and left ventricular pressures are essentially equal), b) for a short time after birth (before the right ventricular pressure has decreased), and c) as a late complication of unrepaired VSD. Confirmation of cardiac auscultation can be obtained by non-invasive cardiac ultrasound (echocardiography). To more accurately measure ventricular pressures, cardiac catheterization, can be performed.

l-TGA can sometimes be diagnosed in utero with an ultrasound after 18 weeks gestation. However, many cases of simple l-TGA are "accidentally" diagnosed in adulthood, during diagnosis or treatment of other conditions.

Although there are several classifications for VSD, the most accepted and unified classification is that of Congenital Heart Surgery Nomenclature and Database Project.

The classification is based on the location of the VSD on the right ventricular surface of the inter ventricular septum and is as follows:

A less invasive method for detecting a PFO or other ASDs than transesophagal ultrasound is transcranial Doppler with bubble contrast. This method reveals the cerebral impact of the ASD or PFO.

d-TGA can sometimes be diagnosed in utero with an ultrasound after 18 weeks gestation. However, if it is not diagnosed in utero, cyanosis of the newborn (blue baby) should immediately indicate that there is a problem with the cardiovascular system. Normally, the lungs are examined first, then the heart is examined if there are no apparent problems with the lungs. These examinations are typically performed using ultrasound, known as an echocardiogram when performed on the heart. Chest x-rays and electrocardiograms (EKG) may also be used in reaching or confirming a diagnosis; however, an x-ray may appear normal immediately following birth. If d-TGA is accompanied by both a VSD and pulmonary stenosis, a systolic murmur will be present.

On the rare occasion (when there is a large VSD with no significant left ventricular outflow tract obstruction), initial symptoms may go unnoticed, resulting in the infant being discharged without treatment in the event of a hospital or birthing center birth, or a delay in bringing the infant for diagnosis in the event of a home birth. On these occasions, a layperson is likely not to recognize symptoms until the infant is experiencing moderate to serious congestive heart failure (CHF) as a result of the heart working harder in a attempt to increase oxygen flow to the body; this overworking of the heart muscle eventually leads to hypertrophy and may result in cardiac arrest if left untreated.

Once someone is found to have an atrial septal defect, a determination of whether it should be corrected is typically made. If the atrial septal defect is causing the right ventricle to enlarge a secundum atrial septal defect should generally be closed. If the ASD is not causing problems the defect may simply checked every two or three years. Methods of closure of an ASD include surgical closure and percutaneous closure.

Drug therapy can be used to minimize risk of thromboembolism and stroke in PFO. Anticoagulants, such as warfarin, are commonly used to reduce blood clotting, whereas antiplatelet agents, such as aspirin, are used to reduce platelet aggregation and thrombosis.

In regards to the diagnosis of pulmonary atresia the body requires oxygenated blood for survival. pulmonary atresia is not threatening to a developing fetus however, because the mother's placenta provides the needed oxygen since the baby's lungs are not yet functional. Once the baby is born its lungs must now provide the oxygen needed for survival, but with pulmonary atresia there is no opening on the pulmonary valve for blood to get to the lungs and become oxygenated. Due to this, the newborn baby is blue in color and pulmonary atresia can usually be diagnosed within hours or minutes after birth.

The diagnosis of pulmonary atresia can be done via the following exams/methods: an echocardiogram, chest x-ray, EKG and an exam to measure the amount of in the body.

Simple l-TGA has a very good prognosis, with many individuals being asymptomatic and not requiring surgical correction.

In a number of cases, the (technically challenging) "double switch operation" has been successfully performed to restore the normal blood flow through the ventricles.

PDA is usually diagnosed using noninvasive techniques. Echocardiography (in which sound waves are used to capture the motion of the heart) and associated Doppler studies are the primary methods of detecting PDA. Electrocardiography (ECG), in which electrodes are used to record the electrical activity of the heart, is not particularly helpful as no specific rhythms or ECG patterns can be used to detect PDA.

A chest X-ray may be taken, which reveals overall heart size (as a reflection of the combined mass of the cardiac chambers) and the appearance of blood flow to the lungs. A small PDA most often accompanies a normal-sized heart and normal blood flow to the lungs. A large PDA generally accompanies an enlarged cardiac silhouette and increased blood flow to the lungs.

With simple d-TGA, if the foramen ovale and ductus arteriosus are allowed to close naturally, the newborn will likely not survive long enough to receive corrective surgery. With complex d-TGA, the infant will fail to thrive and is unlikely to survive longer than a year if corrective surgery is not performed. In most cases, the patient's condition will deteriorate to the point of inoperability if the defect is not corrected in the first year.

While the foramen ovale and ductus arteriosus are open after birth, some mixing of red and blue blood occurs allowing a small amount of oxygen to be delivered to the body; if ASD, VSD, PFO, and/or PDA are present, this will allow a higher amount of the red and blue blood to be mixed, therefore delivering more oxygen to the body, but can complicate and lengthen the corrective surgery and/or be symptomatic.

Modern repair procedures within the ideal timeframe and without additional complications have a very high success rate.

The prognosis for pulmonary atresia varies for every child, if the condition is left uncorrected it may be fatal, but the prognosis has greatly improved over the years for those with pulmonary atresia. Some factors that affect how well the child does include how well the heart is beating, and the condition of the blood vessels that supply the heart. Most cases of pulmonary atresia can be helped with surgery, if the patient's right ventricle is exceptionally small, many surgeries will be needed in order to help stimulate normal circulation of blood to the heart.If uncorrected, babies with this type of congenital heart disease may only survive for the first few days of life. Many children with pulmonary atresia will go on to lead normal lives, though complications such as endocarditis, stroke and seizures are possible.

On chest X-ray, transposition of the great vessels typically shows a cardio-mediastinal silhouette appearing as an ""egg on a string"", wherein in which the enlarged heart represents an egg on its side and the narrowed, atrophic thymus of the superior mediastinum represents the string.

The following table includes the main types of valvular stenosis and regurgitation. Major types of valvular heart disease not included in the table include mitral valve prolapse, rheumatic heart disease and endocarditis.

For newborns with transposition, prostaglandins can be given to keep the ductus arteriosus open which allows mixing of the otherwise isolated pulmonary and systemic circuits. Thus oxygenated blood that recirculates back to the lungs can mix with blood that circulates throughout the body. The arterial switch operation is the definitive treatment for dextro- transposition. Rarely the arterial switch is not feasible due to particular coronary artery anatomy and an atrial switch operation is preferred.

"Prenatal diagnosis (fetal ultrasound):"

Today the diagnosis of double aortic arch can be obtained in-utero in experienced centers. Scheduled repair soon after birth in symptomatic patients can relieve tracheal compression early and therefore potentially prevent the development of severe tracheomalacia.

"Chest X-ray:"

Plain chest x-rays of patients with double aortic arch may appear normal (often) or show a dominant right aortic arch or two aortic arches . There might be evidence of tracheal deviation and/or compression. Sometimes patients present with radiologic findings of pneumonia.

"Barium swallow (esophagraphy):"

Historically the esophagram used to be the gold standard for diagnosis of double aortic arch. In patients with double aortic arch the esophagus shows left- and right-sided indentations from the vascular compression. Due to the blood-pressure related movement of the aorta and the two arches, moving images of the barium-filled esophagus can demonstrate the typical pulsatile nature of the obstruction. The indentation from a dominant right arch is usually deeper and higher compared to the dent from the left arch.

"Bronchoscopy:"

Although bronchoscopy is not routinely done in patients with suspected or confirmed double aortic arch, it can visualize sites and severity of pulsatile tracheal compression.

"Echocardiography:"

In babies under the age of 12 months, echocardiography is considered to be sensitive and specific in making the diagnosis of double aortic arch when both arches are open. Non-perfused elements of other types of vascular rings (e.g. left arch with atretic (closed) end) or the ligamentum arteriosum might be difficult to visualize by echocardiography.

"Computed tomography (CT):"

Computed tomography after application of contrast media is usually diagnostically accurate. It shows the relationship of the arches to the trachea and bronchi.

"Magnetic resonance imaging (MRI):"

Magnetic resonance imaging provides excellent images of the trachea and surrounding vascular structures and has the advantage of not using radiation for imaging compared to Computed tomography.

"Cardiac catherization/aortography:"

Today patients with double aortic arch usually only undergo cardiac catherization to evaluate the hemodynamics and anatomy of associated congenital cardiac defects. Through a catheter in the ascending aorta contrast media is injected and the resulting aortography may be used to delineate the anatomy of the double aortic arch including sites of narrowing in the left aortic arch. Aortography can also be used to visualize the origin of all head and arm vessels originating from the two arches.

Some evidence suggests that indomethacin administration on the first day of life to all preterm infants reduces the risk of developing a PDA and the complications associated with PDA. Indomethacin treatment in premature infants also may reduce the need for surgical intervention.

Treatment is with neonatal surgical repair, with the objective of restoring a normal pattern of blood flow. The surgery is open heart, and the patient will be placed on cardiopulmonary bypass to allow the surgeon to work on a still heart. The heart is opened and the ventricular septal defect is closed with a patch. The pulmonary arteries are then detached from the common artery (truncus arteriosus) and connected to the right ventricle using a tube (a conduit or tunnel). The common artery, now separated from the pulmonary circulation, functions as the aorta with the truncal valve operating as the aortic valve. Most babies survive this surgical repair, but may require further surgery as they grow up. For example, the conduit does not grow with the child and may need to be replaced as the child grows. Furthermore, the truncal valve is often abnormal and may require future surgery to improve its function.

There have been cases where the condition has been diagnosed at birth and surgical intervention is an option. A number of these cases have survived well into adulthood.

Surgical correction is indicated in all double aortic arch patients with obstructive symptoms (stridor, wheezing, pulmonary infections, poor feeding with choking). If symptoms are absent a conservative approach (watchful waiting) can be reasonable. Children with very mild symptoms may outgrow their symptoms but need regular follow-up.

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.

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

A number of classification systems exist for congenital heart defects. In 2000 the International Congenital Heart Surgery Nomenclature was developed to provide a generic classification system.

Sometimes CHD improves without treatment. Other defects are so small that they do not require any treatment. Most of the time CHD is serious and requires surgery and/or medications. Medications include diuretics, which aid the body in eliminating water, salts, and digoxin for strengthening the contraction of the heart. This slows the heartbeat and removes some fluid from tissues. Some defects require surgical procedures to restore circulation back to normal and in some cases, multiple surgeries are needed.

Interventional cardiology now offers patients minimally invasive alternatives to surgery for some patients. The Melody Transcatheter Pulmonary Valve (TPV), approved in Europe in 2006 and in the U.S. in 2010 under a Humanitarian Device Exemption (HDE), is designed to treat congenital heart disease patients with a dysfunctional conduit in their right ventricular outflow tract (RVOT). The RVOT is the connection between the heart and lungs; once blood reaches the lungs, it is enriched with oxygen before being pumped to the rest of the body. Transcatheter pulmonary valve technology provides a less-invasive means to extend the life of a failed RVOT conduit and is designed to allow physicians to deliver a replacement pulmonary valve via a catheter through the patient’s blood vessels.

Most patients require lifelong specialized cardiac care, first with a pediatric cardiologist and later with an adult congenital cardiologist. There are more than 1.8 million adults living with congenital heart defects.

Left to right shunting heart defects include:

- Ventricular septal defect (VSD) (30% of all congenital heart defects)

- Atrial septal defect (ASD)

- Atrioventricular septal defect (AVSD)

- Patent ductus arteriosus (PDA)

- Previously, Patent ductus arteriosus (PDA) was listed as acyanotic but in actuality it can be cyanotic due to pulmonary hypertension resulting from the high pressure aorta pumping blood into the pulmonary trunk, which then results in damage to the lungs which can then result in pulmonary hypertension as well as shunting of blood back to the right ventricle. This consequently results in less oxygenation of blood due to alveolar damage as well as oxygenated blood shunting back to the right side of the heart, not allowing the oxygenated blood to pass through the pulmonary vein and back to the left atrium.

- (Edit - this is called Eisenmenger's syndrome and can occur with Atrial septal defect and ventricular septal defect as well (actually more common in ASD and VSD) therefore PDA can still be listed as acyanotic as, acutely, it is)

Others:

- levo-Transposition of the great arteries (l-TGA)

Acyanotic heart defects without shunting include:

- Pulmonary stenosis (a narrowing of the pulmonary valve)

- Aortic stenosis

- Coarctation of the aorta

Treatment depends on the anatomy of the malformation as determined by angiography or Magnetic Resonance Imaging (MRI).

The evaluation of individuals with valvular heart disease who are or wish to become pregnant is a difficult issue. Issues that have to be addressed include the risks during pregnancy to the mother and the developing fetus by the presence of maternal valvular heart disease as an intercurrent disease in pregnancy.

Normal physiological changes during pregnancy require, on average, a 50% increase in circulating blood volume that is accompanied by an increase in cardiac output that usually peaks between the midportion of the second and third trimesters. The increased cardiac output is due to an increase in the stroke volume, and a small increase in heart rate, averaging 10 to 20 beats per minute. Additionally uterine circulation and endogenous hormones cause systemic vascular resistance to decrease and a disproportionately lowering of diastolic blood pressure causes a wide pulse pressure. Inferior vena caval obstruction from a gravid uterus in the supine position can result in an abrupt decrease in cardiac preload, which leads to hypotension with weakness and lightheadedness. During labor and delivery cardiac output increases more in part due to the associated anxiety and pain, as well as due to uterine contractions which will cause an increases in systolic and diastolic blood pressure.

Valvular heart lesions associated with high maternal and fetal risk during pregnancy include:

1. Severe aortic stenosis with or without symptoms

2. Aortic regurgitation with NYHA functional class III-IV symptoms

3. Mitral stenosis with NYHA functional class II-IV symptoms

4. Mitral regurgitation with NYHA functional class III-IV symptoms

5. Aortic and/or mitral valve disease resulting in severe pulmonary hypertension (pulmonary pressure greater than 75% of systemic pressures)

6. Aortic and/or mitral valve disease with severe LV dysfunction (EF less than 0.40)

7. Mechanical prosthetic valve requiring anticoagulation

8. Marfan syndrome with or without aortic regurgitation

In individuals who require an artificial heart valve, consideration must be made for deterioration of the valve over time (for bioprosthetic valves) versus the risks of blood clotting in pregnancy with mechanical valves with the resultant need of drugs in pregnancy in the form of anticoagulation.