For proper diagnosis of situs ambiguous, cardiac and non-cardiac features must be evaluated. Diagnostic criteria for atrial isomerism includes observation of symmetry of thoracic visceral organs upon echocardiogram, arrhythmia upon electrocardiogram, and chest x-ray for confirmation of the heart's location across the left-right axis. In addition, a series of gastrointestinal tests can be conducted for observation of intestinal malrotation, as well as a scan of the liver and spleen for biliary function.

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

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.

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

Although its cause is poorly understood, situs ambiguous has been linked to family history of malformations and maternal cocaine use, suggesting both genetic and environmental factors play a role. Several genes in the TGF-beta pathway, which controls left-right patterning of viseral organs across the body axis, have been indicated in sporadic and familial cases of atrial isomerism.

There does not appear to be a screening method for prevention of heterotaxy syndrome. However, genetic testing in family members that display atrial isomerism or other cardiac malformations may help to discern risk for additional family members, especially in X-linked causes of heterotaxy syndrome.

Congenital heart defects are now diagnosed with echocardiography, which is quick, involves no radiation, is very specific, and can be done prenatally.

Before more sophisticated techniques became available, chest x-ray was the definitive method of diagnosis. The abnormal "coeur-en-sabot" (boot-like) appearance of a heart with tetralogy of Fallot is classically visible via chest x-ray, although most infants with tetralogy may not show this finding. Absence of interstitial lung markings secondary to pulmonary oligaemia are another classic finding in tetralogy, as is the pulmonary bay sign.

Leaving the hospital after a coarctation procedure is only one step in a lifelong process. Just because the coarctation was fixed does not mean that the patient is cured. It is extremely important to visit the cardiologist on a regular basis. Depending on the severity of the patient's condition, which is evaluated on a case-by-case level, visiting a cardiologist can be a once a year surveillance check up. Keeping a regular schedule of appointments with a cardiologist after a coarctation procedure is complete helps increase the chances of survivability for the patients.

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.

Patients who are diagnosed with AAOCA at or before age 30 years are eligible for this study. They should have otherwise normal heart or only minor defects such as Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, bicuspid aortic valve, mild pulmonary stenosis etc.

Patients who have other major heart problems that require operations are currently not included in this Cohort study. Any other problems with coronary arteries are also not included.

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.

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

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.

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.

If untreated, severe symptomatic aortic stenosis carries a poor prognosis with a 2-year mortality rate of 50-60% and a 3-year survival rate of less than 30%. Prognosis after aortic valve replacement for people who are younger than 65 is about five years less than that of the general population; for people older than 65 it is about the same.

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.

Tet spells may be treated with beta-blockers such as propranolol, but acute episodes require rapid intervention with morphine or intranasal fentanyl to reduce ventilatory drive, a vasopressor such as phenylephrine, or norepinephrine to increase systemic vascular resistance, and IV fluids for volume expansion.

Oxygen (100%) may be effective in treating spells because it is a potent pulmonary vasodilator and systemic vasoconstrictor. This allows more blood flow to the lungs by decreasing shunting of deoxygenated blood from the right to left ventricle through the VSD. There are also simple procedures such as squatting and the knee chest position which increase systemic vascular resistance and decrease right-to-left shunting of deoxygenated blood into the systemic circulation.

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.

MRI is considered the best method of detecting aqueductal stensosis because it can visualize the entire length of the aqueduct, can clearly depict tumors, and can show ventricle enlargement or other deformations. It is helpful in determining the extent of the aqueductal obstruction, particularly when multiple masses or lesions are present, and thereby aids in determining the most appropriate treatment method (i.e. surgery, shunt, or ETV). When constructive interference in steady state (CISS) or fast imaging employing steady-state acquisition (FIESTA) sequence are used, subtle abnormalities or partial obstructions in the aqueduct can be depicted in the MRI. For example, CISS can be used to determine if a thin membrane interfering with CSF flow is present.

Medical diagnosis of the two forms of congenital dextrocardia can be made by ECG or imaging.

Phase contrast-MRI is an imaging method which is more sensitive than MRI for analysis of the pulsatile CSF flow in the ventricular system. This method takes multiple images of the ventricles within one cardiac cycle to measure the flow of CSF running past the area of acquisition. If no flow is seen, this is a reliable diagnosis of aqueductal stenosis as it implies that there is a blockage of CSF.

Ultrasonography can be used in utero to diagnose aqueductal stenosis by showing dilation of the lateral and third ventricles. A retrospective study found that diagnosis can be made as early as 19 weeks of gestation, and that on average diagnosis is made at 33 weeks. Unfortunately, prenatal diagnosis still has a poor prognosis even with immediate treatment upon birth.

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.

The AAOCA is a rare birth defect in the heart that occurs when a coronary artery arises from the wrong location on the main blood vessel, the aorta.

Children and young adults with these defects can die suddenly, especially during or just after exercise. In fact, AAOCA is the second leading cause of sudden cardiac death in children and adolescents in the United States behind hypertrophic cardiomyopathy. The prevalence is estimated at 0.1% to 0.3% of the general population. Neither the true risk of sudden death nor the best way to treat these patients is known with certainty. Because of the risk of sudden death, doctors face the pressure to “do something” but in the absence of long-term follow-up data, the risks and benefits of different management options are unconfirmed. This study will create a pool of information that may guide future choice of treatment options for these children and young adults.

This study will be ongoing for 15 years. It is expected that approximately 1000 patients will be enrolled.

This funding to start the registry was provided by The Children's Heart Foundation, The Cardiac Center at The Children's Hospital of Philadelphia and from CHSS member institutions.

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:

In transthoracic echocardiography, an atrial septal defect may be seen on color flow imaging as a jet of blood from the left atrium to the right atrium.

If agitated saline is injected into a peripheral vein during echocardiography, small air bubbles can be seen on echocardiographic imaging. Bubbles traveling across an ASD may be seen either at rest or during a cough. (Bubbles only flow from right atrium to left atrium if the right atrial pressure is greater than left atrial). Because better visualization of the atria is achieved with transesophageal echocardiography, this test may be performed in individuals with a suspected ASD which is not visualized on transthoracic imaging.

Newer techniques to visualize these defects involve intracardiac imaging with special catheters typically placed in the venous system and advanced to the level of the heart. This type of imaging is becoming more common and involves only mild sedation for the patient typically.

If the individual has adequate echocardiographic windows, use of the echocardiogram to measure the cardiac output of the left ventricle and the right ventricle independently is possible. In this way, the shunt fraction can be estimated using echocardiography.