In terms of the cause of pulmonary atresia, there is uncertainty as to what instigates this congenital heart defect. Potential risk factors that can cause this congenital heart defect are those the pregnant mother may come in contact with, such as:

- Certain medications

- Diet

- Smoking

In TAPVC without obstruction, surgical redirection can be performed within the first month of life. The operation is performed under general anesthesia. The four pulmonary veins are reconnected to the left atrium, and any associated heart defects such as atrial septal defect, ventricular septal defect, patent foramen ovale, and/or patent ductus arteriosus are surgically closed. With obstruction, surgery should be undertaken emergently. PGE1 should be given because a patent ductus arteriosus allows oxygenated blood to go from the circulation of the right heart to the systemic circulation.

Anomalous pulmonary venous connection (or anomalous pulmonary venous drainage or anomalous pulmonary venous return) is a congenital defect of the pulmonary veins.

Some recent research has suggested that a proportion of cases of migraine may be caused by PFO. While the exact mechanism remains unclear, closure of a PFO can reduce symptoms in certain cases. This remains controversial; 20% of the general population has a PFO, which for the most part, is asymptomatic. About 20% of the female population has migraines, and the placebo effect in migraine typically averages around 40%. The high frequency of these facts finding statistically significant relationships between PFO and migraine difficult (i.e., the relationship may just be chance or coincidence). In a large randomized controlled trial, the higher prevalence of PFO in migraine patients was confirmed, but migraine headache cessation was not more prevalent in the group of migraine patients who underwent closure of their PFOs.

The prognosis of pulmonary arterial hypertension (WHO Group I) has an "untreated" median survival of 2–3 years from time of diagnosis, with the cause of death usually being right ventricular failure (cor pulmonale). A recent outcome study of those patients who had started treatment with bosentan (Tracleer) showed that 89% patients were alive at 2 years. With new therapies, survival rates are increasing. For 2,635 patients enrolled in The Registry to Evaluate Early and Long-term Pulmonary Arterial Hypertension Disease Management (REVEAL Registry) from March 2006 to December 2009, 1-, 3-, 5-, and 7-year survival rates were 85%, 68%, 57%, and 49%, respectively. For patients with idiopathic/familial PAH, survival rates were 91%, 74%, 65%, and 59%. Levels of mortality are very high in pregnant women with severe pulmonary arterial hypertension (WHO Group I). Pregnancy is sometimes described as contraindicated in these women.

The epidemiology of IPAH is about 125–150 deaths per year in the U.S., and worldwide the incidence is similar to the U.S. at 4 cases per million. However, in parts of Europe (France) indications are 6 cases per million of IPAH. Females have a higher incidence rate than males (2–9:1).

Other forms of PH are far more common. In systemic scleroderma, the incidence has been estimated to be 8 to 12% of all patients; in rheumatoid arthritis it is rare. However, in systemic lupus erythematosus it is 4 to 14%, and in sickle cell disease, it ranges from 20 to 40%. Up to 4% of people who suffer a pulmonary embolism go on to develop chronic thromboembolic disease including pulmonary hypertension. A small percentage of patients with COPD develop pulmonary hypertension with no other disease to explain the high pressure. On the other hand, obesity-hypoventilation syndrome is very commonly associated with right heart failure due to pulmonary hypertension.

Scimitar syndrome, or congenital pulmonary venolobar syndrome, is a rare congenital heart defect characterized by anomalous venous return from the right lung (to the systemic venous drainage, rather than directly to the left atrium). This anomalous pulmonary venous return can be either partial (PAPVR) or total (TAPVR). The syndrome associated with PAPVR is more commonly known as "Scimitar syndrome" after the curvilinear pattern created on a chest radiograph by the pulmonary veins that drain to the inferior vena cava. This radiographic density often has the shape of a scimitar, a type of curved sword. The syndrome was first described by Catherine Neill in 1960.

Passage of a clot (thrombus) from a systemic vein to a systemic artery. When clots in systemic veins break off (embolize), they travel first to the right side of the heart and, normally, then to the lungs where they lodge, causing pulmonary embolism. On the other hand, when there is a hole at the septum, either upper chambers of the heart (an atrial septal defect) or lower chambers of the heart (ventricular septal defects), a clot can cross from the right to the left side of the heart, then pass into the systemic arteries as a paradoxical embolism. Once in the arterial circulation, a clot can travel to the brain, block a vessel there, and cause a stroke (cerebrovascular accident).

About 90% of emboli are from proximal leg deep vein thromboses (DVTs) or pelvic vein thromboses. DVTs are at risk for dislodging and migrating to the lung circulation. The conditions are generally regarded as a continuum termed "venous thromboembolism" (VTE).

The development of thrombosis is classically due to a group of causes named Virchow's triad (alterations in blood flow, factors in the vessel wall and factors affecting the properties of the blood). Often, more than one risk factor is present.

- "Alterations in blood flow": immobilization (after surgery), injury, pregnancy (also procoagulant), obesity (also procoagulant), cancer (also procoagulant)

- "Factors in the vessel wall": surgery, catheterizations causing direct injury ("endothelial injury")

- "Factors affecting the properties of the blood" (procoagulant state):

- Estrogen-containing hormonal contraception

- Genetic thrombophilia (factor V Leiden, prothrombin mutation G20210A, protein C deficiency, protein S deficiency, antithrombin deficiency, hyperhomocysteinemia and plasminogen/fibrinolysis disorders)

- Acquired thrombophilia (antiphospholipid syndrome, nephrotic syndrome, paroxysmal nocturnal hemoglobinuria)

- Cancer (due to secretion of pro-coagulants)

The treatment of choice is percutaneous balloon valvuloplasty and is done when a resting peak gradient is seen to be >60mm Hg or a mean >40mm Hg is observed.

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.

Surgical correction should be considered in the presence of significant left to right shunting (Qp:Qs ≥ 2:1) and pulmonary hypertension. This involves creation of an inter-atrial baffle to redirect the pulmonary venous return into the left atrium. Alternatively, the anomalous vein can be re-implanted directly into the left atrium.

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

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

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.

The epidemiology of pulmonary heart disease (cor pulmonale) accounts for 7% of all heart disease in the U.S. According to Weitzenblum, et al., the mortality that is related to cor pulmonale is not easy to ascertain, as it is a complication of COPD.

Venous thrombus (clots in the veins) are quite common. Embolizations (dislodgement of thrombi) normally go to the lung and cause pulmonary emboli. In an individual with ASD, these emboli can potentially enter the arterial system, which can cause any phenomenon attributed to acute loss of blood to a portion of the body, including cerebrovascular accident (stroke), infarction of the spleen or intestines, or even a distal extremity (i.e., finger or toe).

This is known as a paradoxical embolus because the clot material paradoxically enters the arterial system instead of going to the lungs.

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.

Untreated, tetralogy of Fallot rapidly results in progressive right ventricular hypertrophy due to the increased resistance caused by narrowing of the pulmonary trunk. This progresses to heart failure which begins in the right ventricle and often leads to left heart failure and dilated cardiomyopathy. Mortality rate depends on the severity of the tetralogy of Fallot. If left untreated, TOF carries a 35% mortality rate in the first year of life, and a 50% mortality rate in the first three years of life. Untreated TOF also causes delayed growth and development, including delayed puberty.

Patients who have undergone total surgical repair of tetralogy of Fallot have improved hemodynamics and often have good to excellent cardiac function after the operation with some to no exercise intolerance (New York Heart Association Class I-II). Surgical success and long-term outcome greatly depend on the particular anatomy of the patient and the surgeon's skill and experience with this type of repair.

Ninety percent of people with total repair as babies develop a progressively leaky pulmonary valve later in life. It is recommended that they follow up at a specialized adult congenital heart disease center.

Pulmonary emboli occur in more than 600,000 people in the United States each year. It results in between 50,000 and 200,000 deaths per year in the United States. The risk in those who are hospitalized is around 1%. The rate of fatal pulmonary emboli has declined from 6% to 2% over the last 25 years in the United States.

A paradoxical embolism, also called a crossed embolism, refers to an embolus which is carried from the venous side of circulation to the arterial side, or vice versa. It is a kind of stroke or other form of arterial thrombosis caused by embolism of a thrombus (blood clot), air, tumor, fat, or amniotic fluid of venous origin, which travels to the arterial side through a lateral opening in the heart, such as a patent foramen ovale, or arteriovenous shunts in the lungs.

The opening is typically an atrial septal defect, but can also be a ventricular septal defect.

Paradoxical embolisms represent two percent of arterial emboli.

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.

A sinus venosus atrial septal defect is a type of atrial septal defect primarily associated with the sinus venosus.

They represent 5% of atrial septal defects.

They can occur near the superior vena cava or inferior vena cava, but the former are more common.

They can be associated with anomalous pulmonary venous connection.

The Registry has been enrolling new patients from participating institutions that are member of the Congenital Heart Surgeons' Society. Hospitals from across North America continue to join the study group and enroll patients. Over 140 patients with AAOCA have been enrolled by June 2011, making it the largest cohort ever assembled of this anomaly.

The causes of pulmonary heart disease (cor pulmonale) are the following: