A color flow and doppler imaging is used to help confirm the presence as well as evaluate the severity of ASD and MS.

A chest x-ray will be given to determine the size of the heart and the blood vessels supplying blood to the lungs.

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.

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.

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:

Hypoplastic left heart syndrome can be diagnosed prenatally or after birth via echocardiography. Typical findings include a small left ventricle and aorta, abnormalities of the mitral and aortic valves, retrograde flow in the transverse arch of the aorta, and left-to-right flow between the atria. It is often recognized during the second trimester of pregnancy, between 18 and 24 weeks' gestation.

Chest X-ray may also assist in diagnosis, showing left atrial enlargement.

Electrocardiography may show "P mitrale", that is, broad, notched P waves in several or many leads with a prominent late negative component to the P wave in lead V, and may also be seen in mitral regurgitation, and, potentially, any cause of overload of the left atrium. Thus, "P-sinistrocardiale" may be a more appropriate term.

Another method of measuring the severity of mitral stenosis is the simultaneous left and right heart chamber catheterization. The right heart catheterization (commonly known as Swan-Ganz catheterization) gives the physician the mean pulmonary capillary wedge pressure, which is a reflection of the left atrial pressure. The left heart catheterization, on the other hand, gives the pressure in the left ventricle. By simultaneously taking these pressures, it is possible to determine the gradient between the left atrium and left ventricle during ventricular diastole, which is a marker for the severity of mitral stenosis. This method of evaluating mitral stenosis tends to overestimate the degree of mitral stenosis, however, because of the time lag in the pressure tracings seen on the right-heart catheterization and the slow Y descent seen on the wedge tracings. If a trans-septal puncture is made during right heart catheterization, however, the pressure gradient can accurately quantify the severity of mitral stenosis.

A bicuspid aortic valve can be associated with a heart murmur located at the right second intercostal space. Often there will be differences in blood pressures between upper and lower extremities. The diagnosis can be assisted with echocardiography or magnetic resonance imaging (MRI). Four-dimensional magnetic resonance imaging (4D MRI) is a technique that defines blood flow characteristics and patterns throughout the vessels, across valves, and in compartments of the heart. Four-dimensional imaging enables accurate visualizations of blood flow patterns in a three-dimensional (3D) spatial volume, as well as in a fourth temporal dimension. Current 4D MRI systems produces high-resolution images of blood flow in just a single scan session.

The diagnosis of pulmonary valve stenosis can be achieved via echocardiogram, as well as a variety of other means among them are: ultrasound, in which images of the heart chambers in utero where the tricuspid valve has thickening (or due to Fallot's tetralogy, Noonan's syndrome, and other congenital defects) and in infancy auscultation of the heart can reveal identification of a murmur.

Some other conditions to contemplate (in diagnosis of pulmonic valvular stenosis) are the following:

- Infundibular stenosis

- Supravalvular pulmonary stenosis

- Dysplastic pulmonic valve stenosis

The echocardiogram is commonly used to confirm the diagnosis of MI. Color doppler flow on the transthoracic echocardiogram (TTE) will reveal a jet of blood flowing from the left ventricle into the left atrium during ventricular systole. Also, it may detect a dilated left atrium and ventricle and decreased left ventricular function.

Because of inability to obtain accurate images of the left atrium and the pulmonary veins with a transthoracic echocardiogram, a transesophageal echocardiogram may be necessary in some cases to determine the severity of MI.

In the diagnosis of tricuspid insufficiency a chest x-ray will demonstrate right heart enlargement. An echocardiogram will assess the chambers of the heart, as well as, right ventricular pressure. Cardiac magnetic resonance may also be used as a diagnostic tool, and finally, cardiac catheterization may determine the extent of the regurgitation.

BAV may become calcified later in life, which may lead to varying degrees of severity of aortic stenosis that will manifest as murmurs. If the leaflets do not close correctly, aortic regurgitation can occur. If these become severe enough, they may require heart surgery.The heart is put under more stress in order to either pump more blood through a stenotic valve or attempt to circulate regurgitation blood through a leaking valve.

One of the most notable associations with BAV is the tendency for these patients to present with ascending aortic aneurysmal lesions.

The extracellular matrix of the aorta in patients with BAV shows marked deviations from that of the normal tricuspid aortic valve.

It is currently believed that an increase in the ratio of MMP2 (Matrix Metalloproteinases 2) to TIMP1 (Tissue Inhibitor Metalloproteinases 1) may be responsible for the abnormal degradation of the valve matrix and therefore lead to aortic dissection and aneurysm. However, other studies have also shown MMP9 involvement with no differences in TIMP expression. The size of the proximal aorta should be evaluated carefully during the workup. The initial diameter of the aorta should be noted and annual evaluation with CT scan, or MRI to avoid ionizing radiation, should be recommended to the patient; the examination should be conducted more frequently if a change in aortic diameter is seen. From this monitoring, the type of surgery that should be offered to the patient can be determined based on the change in size of the aorta.

Coarctation of the aorta (a congenital narrowing in the region of the ductus arteriosus) has also been associated with BAV.

In terms of treatment for pulmonary valve stenosis, valve replacement or surgical repair (depending upon whether the stenosis is in the valve or vessel) may be indicated. If the valve stenosis is of congenital origin, balloon valvuloplasty is another option, depending on the case.

Valves made from animal or human tissue (are used for valve replacement), in adults metal valves can be used.

"P mitrale" is broad, notched P waves in several or many leads with a prominent late negative component to the P wave in lead V, and may be seen in MI, but also in mitral stenosis, and, potentially, any cause of overload of the left atrium. Thus, "P-sinistrocardiale" may be a more appropriate term.

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.

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.

Surgical operations to assist with hypoplastic left heart are complex and need to be individualized for each patient. A cardiologist must assess all medical and surgical options on a case-by-case basis.

Currently, infants undergo either the staged reconstructive surgery (Norwood or Sano procedure within a few days of birth, Glenn or "Hemi-Fontan procedure" at 3 to 6 months of age, and the Fontan procedure at 1 1/2 to 5 years of age) or cardiac transplantation. Current expectations are that 70% of those with HLHS will reach adulthood. Many studies show that the higher the volume (number of surgeries performed) at a hospital, the lower the mortality (death) rate. Factors that increase an infant's risk include lower birth weight, additional congenital anomalies, a genetic syndrome or those with a highly restrictive atrial septum.) For patients without these additional risk factors, 5 year survival now approaches 80%. Further, studies show that about 50% of those children who survived surgery in the early development of staged reconstruction have developmental delay or need special education; about 25% of these surgical survivors have severe disabilities. There is growing evidence that while the incidence of developmental and behavioral disabilities continues to be higher than that in the general population, children operated upon in the more current era have shown significantly better neurological outcomes. An alternative to the traditional Norwood is the Hybrid procedure.

Some physicians offer "compassionate care", instead of the surgeries, which results in the child's death, usually within 2 weeks of birth. Compassionate care is overseen by a physician, and may be carried out either in the hospital or at home. However, due to the vast improvement of surgical intervention, with many hospitals achieving over 90% survival, there is debate on whether or not "compassionate care" should still be offered to families. A study in 2003 concluded that a selection of physicians who are experts in the care of children with HLHS were evenly split when asked what they would do if their own children were born with HLHS, with 1/3 stating that they would choose surgery, 1/3 stating that they would choose palliative (compassionate) treatment without surgery, and 1/3 stating that they are uncertain which choice they would make.

The three-stage procedure is a palliative procedure (not a cure), as the child's circulation is made to work with only two of the heart's four chambers.

MR Imaging is best suited to evaluate patients with Shone's complex. Routine blood tests should be done prior to cardiac catheterization. The surgeons will repair the mitral valve and al the partial surgical removal of supramitral ring is done. This surgical method is preferred to the valve replacement procedure.

Classifying cardiac lesions in infants is quite difficult, and accurate diagnosis is essential. The diagnosis of Shone’s complex requires an ultrasound of the heart (echocardiogram) and a cardiac catheterization procedure, that is, insertion of a device through blood vessels in the groin to the heart that helps identify heart anatomy.

When treated early, that is, before the onset of pulmonary hypertension, a good outcome is possible in patients with Shone’s syndrome. However, other surgical methods can be employed depending upon the patient’s medical background. The single most important determinant of poor outcome during the surgical management of patients with Shone's syndrome is the degree of involvement of the mitral valve and the presence of secondary pulmonary hypertension.

Hypoplastic right heart syndrome is less common than hypoplastic left heart syndrome which occurs in 4 out of every 10,000 births. [3].

This rare anomaly requires prenatal diagnosis since it needs immediate and emergency treatment. Pregnant women whose pregnancy is complicated with this anomaly should be referred to a level 3 hospital with pediatric cardiology and pediatric cardiothoracic surgical team.[3]

It can be associated with aortic stenosis.

The prognosis of tricuspid insufficiency is less favorable for males than females. Furthermore, increased tricuspid insufficiency (regurgitation) severity is an indication of a poorer prognosis according to Nath, et al. It is also important to note that since tricuspid insufficiency most often arises from left heart failure or pulmonary hypertension, the person's prognosis is usually dictated by the prognosis of the latter conditions and not by the tricuspid insufficiency "per se".

With a series of operations or even a heart transplant, a newborn can be treated but not be cured. Young individuals who have undergone reconstructive surgery must refer to a cardiologist who is experienced in congenital heart diseases, "Children with HLHS are at an increased level for developing endocarditis." Kids that have been diagnosed with HRHS must limit the physical activity they participate in to their own endurance level.

The Canadian Cardiovascular Society (CCS) recommends surgical intervention for these indications:

- Limited exercise capacity (NYHA III-IV)

- Increasing heart size (cardiothoracic ratio greater than 65%)

- Important cyanosis (resting oxygen saturation less than 90% - level B)

- Severe tricuspid regurgitation with symptoms

- Transient ischemic attack or stroke

The CCS further recommends patients who require operation for Ebstein's anomaly should be operated on by congenital heart surgeons who have substantial specific experience and success with this operation. Every effort should be made to preserve the native tricuspid valve.

ARVD is an autosomal dominant trait with reduced penetrance. Approximately 40–50% of ARVD patients have a mutation identified in one of several genes encoding components of the desmosome, which can help confirm a diagnosis of ARVD. Since ARVD is an autosomal dominant trait, children of an ARVD patient have a 50% chance of inheriting the disease causing mutation. Whenever a mutation is identified by genetic testing, family-specific genetic testing can be used to differentiate between relatives who are at-risk for the disease and those who are not. ARVD genetic testing is clinically available.