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| Disease found: | Tetralogy Of Fallot |
| Current as of: | October 8, 2024 |
| Disease Overview: | Tetralogy of Fallot is a congenital cyanotic heart disease characterized by 4 key features: a ventricular septal defect (VSD); obstructed outflow of blood from the right ventricle to the lungs (pulmonary stenosis); a displaced aorta causing blood to flow into the aorta from both the right and left ventricles (overriding aorta); and abnormal enlargement of the right ventricle (right ventricular hypertrophy) [more]. |
| Signs and Symptoms: | Onset ranges from birth through the first year of life; classic presenting symptoms include cyanosis, dyspnea worse on exertion, heart murmur, poor appetite, and clubbing. Children may have “tet spells” of severe cyanosis and dyspnea which can lead to loss of consciousness [more]. |
| Diagnosis: | Echocardiogram allows for anatomic visualization of the characteristic structural deficits and is indicated when cyanosis is observed in a newborn [more]. Tetralogy of Fallot may also be detected on a prenatal ultrasound; a fetal echocardiogram should be completed if ultrasound suggests the pathology. |
| Treatment: | Surgical correction of the deformity should occur early in infancy; the exact timing of surgery and technique used vary based on individual patient pathology and surgeon preference [more]. |
| Clinical Management: | Hemodynamic and electrophysiologic abnormalities can remain after surgical repair; patients should continue to follow with cardiologists for life [more]. Patients may be at increased risk for exercise intolerance and sudden cardiac death and benefit from individualized monitoring and risk assessments. |
| Referral: | Patients should seek a hospital offering pediatric cardiology and cardiothoracic surgery with experience in TOF, including many large academic centers. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health. |
| Clinical Trials: | Numerous clinical trials are currently recruiting, including both surgical and non-surgical studies. |