From the Guidelines
Tetralogy of Fallot with pulmonary atresia and patent ductus arteriosus is a rare congenital heart defect with an estimated incidence of approximately 0.07 to 0.08 per 1,000 live births, representing about 5-10% of all Tetralogy of Fallot cases. The condition involves four cardiac abnormalities: ventricular septal defect, overriding aorta, right ventricular hypertrophy, and pulmonary stenosis that has progressed to complete atresia (absence of the pulmonary valve) 1. In these cases, the patent ductus arteriosus serves as a critical pathway for blood flow to the lungs, as the normal route through the pulmonary valve is blocked. Without the PDA, oxygenation would be severely compromised. This condition requires surgical intervention, typically involving a staged repair approach. The presence of this combination of defects is often detected during prenatal ultrasound or shortly after birth when the infant presents with cyanosis (bluish discoloration) and difficulty breathing. The incidence may vary slightly across different populations and geographic regions, with some studies suggesting higher rates in certain ethnic groups or in the presence of specific genetic syndromes such as 22q11.2 deletion syndrome 1. Key considerations in managing this condition include the need for careful preoperative assessment of coronary anatomy to avoid interruption of important coronary vessels and the potential for late complications such as pulmonary valve regurgitation or stenosis, which may require reintervention 1. Given the complexity and variability of Tetralogy of Fallot with pulmonary atresia and patent ductus arteriosus, management should be individualized and guided by a multidisciplinary team of specialists in congenital heart disease.
From the Research
Incidence of Tetralogy of Fallot with Pulmonary Atresia and Patent Ductus Arteriosus
- The incidence of tetralogy of Fallot with pulmonary atresia and patent ductus arteriosus is not explicitly stated in the provided studies.
- However, a study by 2 reported on 44 patients with tetralogy of Fallot and pulmonary atresia with patent ductus arteriosus who underwent staged repair.
- Another study by 3 reported on 66 patients with tetralogy of Fallot and pulmonary atresia, but did not specify the number of patients with patent ductus arteriosus.
Characteristics of Tetralogy of Fallot with Pulmonary Atresia and Patent Ductus Arteriosus
- Patients with tetralogy of Fallot and pulmonary atresia with patent ductus arteriosus often have a ductus-dependent pulmonary circulation 2.
- The presence of patent ductus arteriosus can affect the surgical approach and outcome for these patients 2, 4.
- A study by 5 noted that patients with tetralogy of Fallot and pulmonary atresia can have varying sources of pulmonary blood flow, including ductus arteriosus and major aortopulmonary collateral arteries.
Surgical Management of Tetralogy of Fallot with Pulmonary Atresia and Patent Ductus Arteriosus
- Surgical management of tetralogy of Fallot with pulmonary atresia and patent ductus arteriosus often involves staged repair 2, 6.
- A study by 4 reported on the use of a Foley balloon catheter in palliative surgery for pulmonary atresia with an intact ventricular septum, with additional cases of pulmonary atresia with ventricular septal defect and tetralogy of Fallot.
- The goal of management is to establish pulmonary blood flow from the right ventricle with right ventricular pressures that are ideally less than half of the systemic pressure 5.