What are the management strategies for adults with unrepaired cyanotic congenital heart defects (CHD)?

From the Guidelines

For adults with unrepaired cyanotic congenital heart defects, management should focus on preventing complications and improving quality of life through prophylactic measures and risk reduction strategies 1.

Key Management Strategies

• Avoiding high-risk activities: Pregnancy, iron deficiency and anemia, dehydration, infectious diseases, cigarette smoking, recreational drug abuse, transvenous PM/ICD leads, strenuous exercise, and acute exposure to heat should be avoided to prevent complications 1.
• Vaccinations: Annual influenza vaccination and pneumovax every 5 years to prevent infectious diseases 1.
• Contraceptive advice: To prevent pregnancy, which is a high-risk condition for adults with unrepaired cyanotic CHD 1.
• Regular follow-up: Every 6-12 months in a specialized GUCH centre in close collaboration with the family physician to evaluate potential complications and provide education on risk reduction strategies 1.
• Blood work and comprehensive evaluation: To monitor for potential complications and provide systematic review of the patient's condition 1.
• Cautious use of certain agents: Avoiding agents that impair renal function and using an air filter in an intravenous line to prevent air embolism 1.
• Prompt therapy of upper respiratory tract infections: To prevent complications and improve quality of life 1.

Additional Considerations

• Education about risk reduction strategies: Patients should be educated about the importance of avoiding high-risk activities and managing their condition to prevent complications 1.
• Collaboration with a GUCH cardiologist: Before administration of any agent or performance of any surgical/interventional procedure to ensure proper management and prevent complications 1.

From the Research

Management Strategies for Adults with Unrepaired Cyanotic Congenital Heart Defects (CHD)

• The management of adults with unrepaired cyanotic CHD, such as tetralogy of Fallot, involves addressing late complications including heart failure, the need for re-interventions, and late arrhythmias 2.
• Right ventricular (RV) failure, often caused by chronic pulmonary regurgitation, is a significant cause of heart failure in patients with tetralogy of Fallot, and current treatment options are limited 2.
• The treatment of hyperviscosity secondary to erythrocytosis in cyanotic heart disease is controversial, but phlebotomy may be used to increase exercise capacity, reduce symptoms of hyperviscosity, and reduce the risk of vasoocclusive disease in selected patients 3.
• However, repeated phlebotomy can lead to iron deficiency, resulting in microcytic erythrocytes that induce higher viscosity than normocytic erythrocytes, which may increase the risk for venoocclusive events 3.
• Hematologic management of adults with cyanotic congenital heart disease includes regulation of erythrocyte mass, concepts of compensated and decompensated erythrocytosis, symptoms of deficient tissue oxygen transport, hyperviscosity and iron deficiency, and the potential relation between elevated hematocrit levels and brain injury 4.
• Phlebotomy is best reserved for treatment of symptomatic hyperviscosity, and iron therapy is indicated for symptomatic iron deficient erythropoiesis 4.
• Abnormal hemostatic mechanisms are common, and antithrombotic medications have little or no role in treatment 4.
• Hyperuricemia is the result of abnormal renal uric acid excretion, not urate overproduction, and serves as a marker of abnormal renal function, and drugs that promote urate excretion are the preferred maintenance treatment in symptomatic hyperuricemic patients 4.

Common Lesions and Management

• The most common form of cyanotic congenital heart disease in adults is tetralogy of Fallot, and other complex conditions seen in adults include univentricular hearts, Ebstein's anomaly of the tricuspid valve, and corrected transposition of the great vessels 5.
• Most patients with congenital heart disease will need to undergo surgery, catheterization, or catheterization intervention, and results are excellent in the adult population 5.
• Long-term follow-up is needed for any adult congenital heart patient receiving care in institutions that are well organized and well equipped, as we learn more about the natural and unnatural history of these conditions 5.

Clinical Presentations and Diagnosis

• The clinical presentation of adults with congenital heart disease is exceptionally diverse, and operated, unoperated acyanotic, and cyanotic patients often have similar physiologic characteristics, and thus shared clinical symptomatology 6.
• Five illustrative cases are included to highlight important considerations in the diagnosis and management of ACHD, focusing on epidemiology, natural history, clinical outcomes, and use of ancillary studies in commonly encountered cardiac defects 6.