Pulmonary atresia with ventricular septal defect is a rare birth defect characterized by pulmonary valve atresia occurring alongside a defect on the right ventricular outflow tract.It is a type of congenital heart disease/defect, and one of the two recognized subtypes of pulmonary atresia, the other being pulmonary atresia with intact ventricular septum. Signs and symptoms
The condition consists of atresia affecting the pulmonary valve and a hypoplastic right ventricular outflow tract. The ventricular septal defect doesnt impede the in and outflowing of blood in the ventricular septum, which helps it form during fetal life.The spectrum of symptoms exhibited by children with this condition depends on the severity of the condition, while some barely show symptoms, others might develop complications such as congestive heart failure.In symptomatic children, symptoms become apparent soon after birth, these usually consist of the following:
Cyanosis
Breathing difficulties
Feeding difficulties
Exhaustion while being fed
Heart murmur
Excessive daytime sleepiness
Sticky skinOther features can occur alongside this birth defect, including other congenital anomalies such as polydactyly, microcephaly, congenital hearing loss (sensorineural type), renal agenesis, dextrocardia, etc.The condition has been called a severe form of Tetralogy of Fallot.If deformed blood vessels coming from the thoracic aorta appear alongside this condition, the phenotype is renamed to pulmonary atresia with ventricular septal defect and major aortopulmonary collaterals.
Clubfoot was diagnosed between 12 and 23 weeks of gestation in 86% of children and between 24 and 32 weeks of gestation in the remaining 14%.Without treatment the foot remains deformed and people walk on the sides or tops of their feet, which can cause calluses, foot infections, trouble fitting into shoes, pain, difficulty walking, and disability. Causes
Hypotheses about the precise cause of clubfoot vary. However, research has found that genetics, environmental factors or a combination of both are associated with this condition. Evidence suggests that the etiology of clubfoot is most likely multifactorial. A meta-analysis and systematic review found that the most clinically relevant risk factors for clubfoot were family history, paternal and maternal smoking, birthing parent obesity, gestational diabetes, amniocentesis, and the use of selective serotonin re-uptake inhibitors (SSRIS). Many findings agree that "it is likely there is more than one different cause and at least in some cases the phenotype may occur as a result of a threshold effect of different factors acting together." The most commonly associated conditions are distal arthrogryposis or myelomeningocele. The factors contributing to the development of clubfoot can be categorized as extrinsic and intrinsic factors.Extrinsic Factors
Factors that can influence the positioning of the fetal foot in uteru include oligohydramnios, breech presentation, Müllerian anomalies, multiple gestation, amniotic band sequence, or amniocentesis at <15 weeks of gestation. In cases that impede normal growth and position for longstanding period of times, clubfoot can be accompanied with other deformations and may be associated with developmental hip dysplasia.