From the Guidelines
Tetralogy of Fallot is a congenital heart defect that requires surgical correction, typically performed within the first year of life, and involves open-heart surgery to close the ventricular septal defect and relieve the pulmonary stenosis, with lifelong cardiac follow-up necessary to monitor for potential complications such as arrhythmias, pulmonary valve regurgitation, or right ventricular dysfunction. The condition is characterized by four anatomical abnormalities: pulmonary stenosis, ventricular septal defect, overriding aorta, and right ventricular hypertrophy 1. Before surgery, infants may experience "tet spells" - episodes of bluish discoloration due to decreased oxygen in the blood, which can be managed by placing the infant in a knee-chest position and administering oxygen 1. Some infants may need a temporary shunt procedure before complete repair. After surgical correction, most patients lead normal lives but require regular follow-up with a cardiologist who has expertise in adult congenital heart disease (ACHD) to monitor for potential complications such as residual pulmonary regurgitation, RV dilation and dysfunction, residual RVOT obstruction, branch pulmonary artery stenosis or hypoplasia, sustained ventricular tachycardia, and sudden cardiac death 1. The most common problem encountered in the adult patient after repair is that of pulmonary regurgitation, which can lead to progressive RV dilation and dysfunction, requiring intervention to recover performance 1.
Key Considerations
- Lifelong cardiac follow-up is necessary to monitor for potential complications
- Regular follow-up with a cardiologist who has expertise in ACHD is recommended
- Screening for heritable causes of the condition and genetic syndromes should be offered
- Patients with unrepaired or palliated forms of tetralogy should have a formal evaluation at an ACHD center regarding suitability for repair
- Pulmonary valve replacement may be necessary in some cases to prevent progressive RV dilation and dysfunction
Management and Treatment
- Surgical correction is typically performed within the first year of life
- Open-heart surgery is necessary to close the ventricular septal defect and relieve the pulmonary stenosis
- Temporary shunt procedures may be necessary before complete repair
- Lifelong cardiac follow-up is necessary to monitor for potential complications
- Pulmonary valve replacement may be necessary in some cases to prevent progressive RV dilation and dysfunction 1.
From the Research
Definition and Characteristics of Tetralogy of Fallot
- Tetralogy of Fallot is one of the most common forms of cyanotic congenital heart disease, characterized by four main anatomic features: a large ventricular septal defect, overriding aorta, right ventricular outflow obstruction, and right ventricular hypertrophy 2.
- It is the most common form of cyanotic congenital heart disease, and one of the first to be successfully repaired by congenital heart surgeons 3.
Diagnosis and Treatment
- The refinement of fetal screening and echocardiography has led to an increase in prenatal diagnosis, allowing for prenatal counseling and prediction of the postnatal course and surgical repair 2.
- Full surgical repair within the first year of life, either primary or after a palliative procedure, is the mainstay of therapy 2.
- Advances in diagnosis, perioperative and surgical treatment, and postoperative care have improved outcomes, with almost all those born with tetralogy of Fallot now expected to survive to adulthood 3.
Complications and Long-term Outcomes
- Long-term complications of surgical repair include arrhythmias, sudden death, and right ventricular aneurysm formation, with reoperation necessary in approximately 5% of patients 4.
- The use of a pulmonary valve-sparing technique in repair has been shown to be effective in reducing the need for reoperation and improving midterm outcomes 5.
- Tetralogy of Fallot is a lifelong disease that requires careful follow-up through adulthood, with the potential for additional surgical and interventional procedures later in life 2, 3.
Management and Care
- The management of patients with repaired tetralogy of Fallot involves addressing common clinical questions and providing multidisciplinary care throughout their lives 6.
- The recognition of late complications and the evolution of treatment strategies are crucial in providing the best possible lifelong care for individuals with tetralogy of Fallot 3.