Among some of the symptoms consistent with pulmonary valve stenosis are the following:

- Heart murmur

- Cyanosis

- Dyspnea

- Dizziness

- Upper thorax pain

- Developmental disorders

In regards to the cause of pulmonary valve stenosis a very high percentage are congenital, the right ventricular flow is hindered (or obstructed by this). The cause in turn is divided into: valvular, external and intrinsic (when it is acquired).

A right ventricular outflow tract obstruction (RVOTO) may be due to a defect in the pulmonic valve, the supravalvar region, the infundibulum, or the pulmonary artery.

- Pulmonary atresia

- Pulmonary valve stenosis

- Hypoplastic right heart syndrome

- Tetralogy of Fallot

At birth, the ductus arteriosus is still open, and there is higher than normal resistance to blood flow in the lungs. This allows for adequate oxygenation via mixing between the atria and a normal appearance at birth. When the ductus begins to close and pulmonary vascular resistance decreases, blood flow through the ductus is restricted and flow to the lungs is increased, reducing oxygen delivery to the systemic circulation. This results in cyanosis and respiratory distress which can progress to cardiogenic shock. The first symptoms are cyanosis that does not respond to oxygen administration or poor feeding. Peripheral pulses may be weak and extremities cool to the touch.

HLHS often co-occurs with low birth weight and premature birth.

In neonates with a small atrial septal defect, termed "restrictive", there is inadequate mixing of oxygenated and deoxygenated blood. These neonates quickly decompensate and develop acidosis and cyanosis.

On EKG, right axis deviation and right ventricular hypertrophy are common, but not indicative of HLHS. Chest x-ray may show a large heart (cardiomegaly) or increased pulmonary vasculature. Neonates with HLHS do not typically have a heart murmur, but in some cases, a pulmonary flow murmur or tricuspid regurgitation murmur may be audible.

Co-occurring tricuspid regurgitation or right ventricular dysfunction can cause hepatomegaly to develop.

Pulmonary atresia is a congenital malformation of the pulmonary valve in which the valve orifice fails to develop. The valve is completely closed thereby obstructing the outflow of blood from the heart to the lungs. The pulmonary valve is located on the right side of the heart between the right ventricle and pulmonary artery. In a normal functioning heart, the opening to the pulmonary valve has three flaps that open and close

In congenital heart defects such as pulmonary atresia, one finds that these structural abnormalities can include the valves of the heart, as well as, the walls and arteries/veins near the heart muscle. Consequently, blood flow due to the aforementioned structural abnormalities, is affected, either by blocking or altering the flow of blood through the human cardiac muscle.

A left ventricular outflow tract obstruction (LVOTO) may be due to a defect in the aortic valve, or a defect located at the subvalvar or supravalvar level.

- Aortic valve stenosis

- Supravalvar aortic stenosis

- Coarctation of the aorta

- Hypoplastic left heart syndrome

The symptoms/signs of pulmonary atresia that will occur in babies are consistent with cyanosis, some fatigue and some shortness of breath (eating may be a problem as well).

In the case of pulmonary atresia with ventricular septal defect, one finds that decreased pulmonary blood flow may cause associated defects such as:

- Tricuspid atresia

- Tetralogy of Fallot (severe)

- RV w/ double-outlet

Pulmonic stenosis, also known as pulmonary stenosis, is a dynamic or fixed obstruction of flow from the right ventricle of the heart to the pulmonary artery. It is usually first diagnosed in childhood.

Pulmonic stenosis is usually due to isolated valvular obstruction (pulmonary valve stenosis), but it may be due to subvalvular or supravalvular obstruction, such as infundibular stenosis. It may occur in association with other congenital heart defects as part of more complicated syndromes (for example, tetralogy of Fallot).

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

Because pulmonic regurgitation is the result of other factors in the body, any noticeable symptoms are ultimately caused by an underlying medical condition rather than the regurgitation itself. However, more severe regurgitation may contribute to right ventricular enlargement by dilation, and in later stages, right heart failure. A diastolic decrescendo murmur can sometimes be identified,( heard best) over the left lower sternal border.

Signs and symptoms of mitral stenosis include the following:

- Heart failure symptoms, such as dyspnea on exertion, orthopnea and paroxysmal nocturnal dyspnea (PND)

- Palpitations

- Chest pain

- Hemoptysis

- Thromboembolism in later stages when the left atrial volume is increased (i.e., dilation). The latter leads to increase risk of atrial fibrillation, which increases the risk of blood stasis (motionless). This increases the risk of coagulation.

- Ascites and edema and hepatomegaly (if right-side heart failure develops)

Fatigue and weakness increase with exercise and pregnancy.

When pulmonic stenosis (PS) is present, resistance to blood flow causes right ventricular hypertrophy. If right ventricular failure develops, right atrial pressure will increase, and this may result in a persistent opening of the foramen ovale, shunting of unoxygenated blood from the right atrium into the left atrium, and systemic cyanosis. If pulmonary stenosis is severe, congestive heart failure occurs, and systemic venous engorgement will be noted. An associated defect such as a patent ductus arteriosus partially compensates for the obstruction by shunting blood from the left ventricle to the aorta then back to the pulmonary artery (as a result of the higher pressure in the left ventricle) and back into the lungs.

Symptoms include difficulty breathing (dyspnea) and bluish discoloration on skin and lips (cyanosis). A newborn baby will show signs of heart failure such as edema, fatigue, wheezing, sweating and irregular heartbeat.

Children with tetralogy of Fallot may develop "tet spells". These are acute hypoxia spells, characterized by shortness of breath, cyanosis, agitation, and loss of consciousness. This may be initiated by any event leading to decreased oxygen saturation or that causes decreased systemic vascular resistance, leading to increased venous return, which in turn leads to increased shunting through the ventricular septal defect.

Tet spells are characterized by a sudden, marked increase in cyanosis followed by syncope, and may result in hypoxic brain injury and death.

Older children will often squat during a tet spell. This increases systemic vascular resistance and allows for a temporary reversal of the shunt. It increases pressure on the left side of the heart, decreasing the right to left shunt thus decreasing the amount of deoxygenated blood entering the systemic circulation.

Ventricular septal defect is usually symptomless at birth. It usually manifests a few weeks after birth.

VSD is an acyanotic congenital heart defect, aka a left-to-right shunt, so there are no signs of cyanosis in the early stage. However, uncorrected VSD can increase pulmonary resistance leading to the reversal of the shunt and corresponding cyanosis.

- Pansystolic (Holosystolic) murmur along lower left sternal border (depending upon the size of the defect) +/- palpable thrill (palpable turbulence of blood flow). Heart sounds are normal. Larger VSDs may cause a parasternal heave, a displaced apex beat (the palpable heartbeat moves laterally over time, as the heart enlarges). An infant with a large VSD will fail to thrive and become sweaty and tachypnoeic (breathe faster) with feeds.

The restrictive VSDs (smaller defects) are associated with a louder murmur and more palpable thrill (grade IV murmur). Larger defects may eventually be associated with pulmonary hypertension due to the increased blood flow. Over time this may lead to an Eisenmenger's syndrome the original VSD operating with a left-to-right shunt, now becomes a right-to-left shunt because of the increased pressures in the pulmonary vascular bed.

Tetralogy of Fallot results in low oxygenation of blood due to the mixing of oxygenated and deoxygenated blood in the left ventricle via the ventricular septal defect (VSD) and preferential flow of the mixed blood from both ventricles through the aorta because of the obstruction to flow through the pulmonary valve. This is known as a right-to-left shunt. The primary symptom is low blood oxygen saturation with or without cyanosis from birth or developing in the first year of life. If the baby is not cyanotic then it is sometimes referred to as a "pink tet". Other symptoms include a heart murmur which may range from almost imperceptible to very loud, difficulty in feeding, failure to gain weight, retarded growth and physical development, dyspnea on exertion, clubbing of the fingers and toes, and polycythemia. The baby may turn blue with breast feeding or crying.

Hypoplastic left heart syndrome (HLHS) is a rare congenital heart defect in which the left side of the heart is severely underdeveloped. It may affect the left ventricle, aorta, aortic valve, or mitral valve.

Major symptoms of Lutembacher's syndrome as a result of ASD and MS can range from heart failure to pulmonary congestion.

- Right ventricular overload and Right-sided heart failure: Both are caused by a large ASD and MS (moderate to severe).

- Palpitations: This is caused by blood flowing from left atrium to the right atrium causing a higher left atrial pressure and leading to mitral stenosis. Both atria will be dilated (stretched or open)leading to future atrial arrhythmias or atrial fibrillation (Riaz).

- Pulmonary congestion: When blood or fluid pools within the lungs; this is usually a symptom of mitral stenosis and a small ASD.

- Loud mitral S1 and wide fixed split of pulmonary S2: The loud sound of the mitral S1 and the wide fixed split of pulmonary S2 is a symptoms of mitral stenosis. The sounds often are caused by a reduced pressure gradient in the mitral area that was caused from decompression of the left atrium from the ASD and a displacement (moving from normal position) of the left ventricular lower portion of the heart to the a large right ventricle. The second heart sound (S2) split is caused by the increase right heart blood flow through the ASD causing a late closing of the pulmonary component of the S2 as well as decreased left ventricular and aortic blood flow.

- III/IV mid diastolic murmur, early systolic murmur: This heart murmur is caused by an increase blood flow through the tricuspid valve due to ASD; it is heard best in the left lower sternal area or the bottom of the heart (apex).

Isomerism of the bronchial tree is not typically damaging and presents no significant clinical complications. Pulmonary valve stenosis results in issues of blood flow to the lungs.

Most individuals with a significant ASD are diagnosed "in utero" or in early childhood with the use of ultrasonography or auscultation of the heart sounds during physical examination.

Some individuals with an ASD have surgical correction of their ASD during childhood. The development of signs and symptoms due to an ASD are related to the size of the intracardiac shunt. Individuals with a larger shunt tend to present with symptoms at a younger age.

Adults with an uncorrected ASD present with symptoms of dyspnea on exertion (shortness of breath with minimal exercise), congestive heart failure, or cerebrovascular accident (stroke). They may be noted on routine testing to have an abnormal chest X-ray or an abnormal ECG and may have atrial fibrillation. If the ASD causes a left-to-right shunt, the pulmonary vasculature in both lungs may appear dilated on chest X-ray, due to the increase in pulmonary blood flow.

Most individuals with an uncorrected secundum ASD do not have significant symptoms through early adulthood. More than 70% develop symptoms by about 40 years of age. Symptoms are typically decreased exercise tolerance, easy fatigability, palpitations, and syncope.

Complications of an uncorrected secundum ASD include pulmonary hypertension, right-sided heart failure, atrial fibrillation or flutter, stroke, and Eisenmenger's syndrome.

While pulmonary hypertension is unusual before 20 years of age, it is seen in 50% of individuals above the age of 40. Progression to Eisenmenger's syndrome occurs in 5 to 10% of individuals late in the disease process.

Abdominal organs, including the liver, stomach, intestinal tract, and spleen may be randomly arranged throughout the left-right axis of the body. Distribution of these organs largely dictates treatment, clinical outcomes, and further evaluation.

The liver is typically symmetrical across the left-right axis in patients with situs ambiguous, which is abnormal. A majority of left atrial isomeric patients have defects throughout the biliary tree, which is responsible for bile production, even when the gall bladder is functional and morphologically normal. This biliary atresia can lead to acute problems such as nutrient malabsorption, pale stools, dark urine, and abdominal swelling. If this condition continues without proper treatment, cirrhosis and liver failure become a major concern. Biliary atresia is not usually observed in patients with right atrial isomerism.

Random positioning of the stomach is often one of the first signals of situs ambiguous upon examination. Malrotation of the entire intestinal tract, or improper folding and bulging of the stomach and intestines, results in bowel obstruction. This impairment leads to vomiting, abdominal distention, mucus and blood in the stool. Patients may also experience abdominal pain. Intestinal malrotation is more commonly identified in patients with right atrial isomerism than in those with left atrial isomerism.

Isomeric patients often experience disruptions to splenic development during embryogenesis, resulting in an overall lack a spleen (asplenia) or development of many spleens (polysplenia). Asplenia is most often observed in patients with right atrial isomerism. Polysplenia results in 90% of patients with left atrial isomerism. Although they have many spleens, each is usually ineffective resulting in functional asplenia. Rarely, left atrial isomeric patients have a single, normal, functional spleen. Patients lacking a functional spleen are in danger of sepsis and must be monitored.

Signs/symptoms of tricuspid insufficiency are generally those of right-sided heart failure, such as ascites and peripheral edema.

Tricuspid insufficiency may lead to the presence of a pansystolic heart murmur. Such a murmur is usually of low frequency and best heard low on the lower left sternal border. As with most right-sided phenomena, it tends to increase with inspiration, and decrease with expiration. This is known as Carvallo's sign. However, the murmur may be inaudible indicating the relatively low pressures in the right side of the heart. A third heart sound may also be present, also heard with inspiration at the lower sternal border.

In addition to the possible ausculatory findings above, there are other signs indicating the presence of tricuspid regurgitation. There may be giant C-V waves in the jugular pulse and a palpably (and sometimes visibly) pulsatile liver on abdominal exam. Since the murmur of tricupsid regurgitation may be faint or inaudible, these signs can be helpful in establishing the diagnosis.

Persistent truncus arteriosus (or Patent truncus arteriosus or Common arterial trunk), is a rare form of congenital heart disease that presents at birth. In this condition, the embryological structure known as the truncus arteriosus fails to properly divide into the pulmonary trunk and aorta. This results in one arterial trunk arising from the heart and providing mixed blood to the coronary arteries, pulmonary arteries, and systemic circulation.

If there is a defect in the septum, it is possible for blood to travel from the left side of the heart to the right side of the heart, or the other way around. Since the right side of the heart contains venous blood with a low oxygen content, and the left side of the heart contains arterial blood with a high oxygen content, it is beneficial to prevent any communication between the two sides of the heart and prevent the blood from the two sides of the heart from mixing with each other.