What is the diagnosis and treatment for Tetralogy of Fallot (TOF) with Pulmonary Atresia and Major Aortopulmonary Collateral Arteries (MAPCAs) presenting with hemoptysis?

From the Guidelines

Hemoptysis in a patient with Tetralogy of Fallot with pulmonary atresia and major aortopulmonary collateral arteries (MAPCAs) is a medical emergency that requires immediate stabilization and urgent consultation with both pulmonology and cardiology experts. The patient should be positioned upright or on the affected side, and vital signs should be closely monitored. For active bleeding, tranexamic acid (1g IV followed by 1g over 8 hours) may help control hemorrhage 1.

Diagnostic Workup

The diagnostic workup should include:

• Chest imaging (CT angiography preferred) to assess the anatomy of the collateral vessels and the lungs
• Bronchoscopy to localize the bleeding site
• Cardiac catheterization to assess collateral vessel anatomy and pressures 1

Definitive Management

Definitive management may require:

• Embolization of bleeding vessels by interventional radiology
• Surgical repair of collaterals
• In some cases, complete repair of the cardiac defect if not previously performed 1 Patients should avoid anticoagulants, NSAIDs, and activities that increase pulmonary pressures. The underlying mechanism involves abnormal high-pressure blood flow through collateral vessels supplying the lungs, which can rupture and cause bleeding into the airways, making this a potentially life-threatening complication requiring specialized cardiac and pulmonary expertise 1.

Key Considerations

Key considerations in the management of these patients include:

• The complexity of the pulmonary vascular bed, which may make repair unattractive or impossible 1
• The need for regular follow-up with a cardiologist who has expertise in adult congenital heart disease (ACHD) 1
• The importance of screening for heritable causes of the condition, such as 22q11 deletion 1

From the Research

Tetralogy of Fallot with Pulmonary Atresia and MAPCAs

• Tetralogy of Fallot with pulmonary atresia is a complex congenital heart defect characterized by diverse sources of blood flow to the lungs, including multiple systemic-to-pulmonary collateral arteries (MAPCAs) 2, 3.
• The management of this condition must be individualized to each patient's anatomy and physiology, with cardiac catheterization playing a crucial diagnostic and therapeutic role 4.
• Patients with tetralogy of Fallot and pulmonary atresia are at higher risk for reinterventions to address pulmonary arterial or RV-pulmonary artery conduit stenosis, progressive aortic root dilation and aortic insufficiency, and late mortality than those with less severe forms of tetralogy of Fallot 3.

Hemoptysis in Tetralogy of Fallot with Pulmonary Atresia and MAPCAs

• There is no direct evidence in the provided studies that specifically addresses hemoptysis as a manifestation of tetralogy of Fallot with pulmonary atresia and MAPCAs.
• However, it is known that patients with tetralogy of Fallot and pulmonary atresia are at risk for various complications, including those related to the pulmonary circulation, which could potentially lead to hemoptysis 2, 3, 5, 4, 6.

Surgical Outcomes and Management

• The goal of management is to establish pulmonary blood flow from the right ventricle with RV pressures that are ideally less than half of the systemic pressure to allow for closure of the ventricular septal defect 3.
• Surgical approaches may include single-stage full correction, unifocalization, and right ventricular to pulmonary conduit implantation (RVPAC) or transanular patch reconstruction, depending on the patient's anatomy and physiology 2, 4, 6.
• The outcome of patients with tetralogy of Fallot and pulmonary atresia can vary, with a reported 10-year survival rate of 80.5% ± 4.7% and a median intervention-free interval after VSD closure of 1.7 ± 0.5 years 6.