If surgery isnt performed in severe cases, the child can (and will) die, since the phenotype of pulmonary atresia is not compatible with life due to the pulmonary valve atresia resulting in reduced blood oxygenation.Life expectancy for untreated children with PAVSD is 10 years. Survival rates for untreated people with this defect have been reported to be 50% at the tenth decade and 10% at the twentieth decade, and out of these untreated patients, those who do not have major aortopulmonary arteries have a higher chance of living to their 30s than those who do have them, as the latter have a 40% chance of surviving to the tenth decade and a 20% chance of doing so to the thirtieth decade.Prognosis after surgical intervention is generally good. History
This combination of birth defects was first described in 1980 by DiChiara et al., their patients were a father and his son from the United States both of which had pulmonary atresia and a ventricular septal defect. Up until that point, there had been no familial cases of PA with a VSD. A multifactorial etiology (that is, a cause involving genetics and the environment) was suspected in these patients and they were offered medical counseling for the condition.As of 2011, the oldest patient with untreated PAVSD was a 59-year old woman from Japan. Her condition was discovered in childhood but she refused to get any surgery to treat it (including cardiac catheterization), she developed dyspnea during her teenage years.
Complications
Children with this condition are at a higher risk of developing the following complications:
Failure to thrive
Recurrent chest infections
Endocarditis
Epilepsy
Stroke
Arrhythmia
Heart failure
Premature deathChildren whose PAVSD is caused by DiGeorge syndrome (also known as 22q11.2 deletion syndrome) are more likely to suffer from the post-surgical complications (especially respiratory ones) associated with surgeries that treat this defect.Women with PAVSD are at a slightly higher risk of being infertile and having miscarriages or children with a congenital heart defect.Airway hyperresponsiveness is a commonly seen co-morbidity among those afflicted with PAVSD. Pathogenesis
Pulmonary atresia in PAVSD takes place during the first 8 weeks of fetal life, when the pulmonary valve that is supposed to form, fails to form, this doesnt allow blood to flow through the pulmonary artery from the right ventricle. The ventricular septal defect associated with PAVSD lets the right ventricule form.In some cases of PAVSD, major aortopulmonary collateral arteries develop; in a normal fetus, these arteries usually develop but then start deteriorating after pulmonary arteries grow, in fetuses with PAVSD, the pulmonary arteries dont develop, and this gives a chance to the major aortopulmonary collateral arteries to develop fully. Pathophysiology
The mildest variant of pulmonary atresia with ventricular septal defect involves pulmonary atresia with normally developed main pulmonary artery and branch pulmonary arteries, the blood that flows to the lungs from the right side of the heart goes to the left side of the heart through the ventricular septum which then flows through the patent ductus arteriosus.