Congenital heart defects such as tetralogy of Fallot include a combination of four abnormalities that affect the heart's structure and blood vessels. A straightforward overview of Tetralogy of Fallot causes, symptoms, diagnosis, treatment, and prevention is provided in this article.
A combination of genetic and environmental factors may cause Tetralogy of Fallot. Some potential causes include:
Genetic factors: Tetralogy of Fallot may be caused by genetic mutations or chromosomal abnormalities that affect fetal heart development.
In the developing fetus, exposure to certain environmental factors or toxins during pregnancy may increase the risk of Tetralogy of Fallot.
Symptoms of Tetralogy of Fallot vary depending on the severity of the heart defects and the age of onset.
Bluish discoloration of the skin, lips, and nails caused by low oxygen levels in the blood.
Breathing difficulty, especially during physical activity or exertion.
Often associated with reduced oxygen supply to the body, fatigue is a feeling of weakness or tiredness.
It is caused by inadequate oxygen delivery to tissues in infants and children, resulting in slow growth or failure to thrive.
Enlargement and rounding of the fingers and toes, a sign of chronic oxygen deprivation.
An episode of fainting or loss of consciousness, often caused by exertion or stress.
Murmurs and clicks may be heard during auscultation due to turbulent blood flow through heart defects.
Tetralogy of Fallot is typically diagnosed based on a combination of clinical evaluation, medical history, and diagnostic tests. Diagnostic procedures may include:
An examination of vital signs, heart sounds, and signs of cyanosis or clubbing will be performed by a healthcare provider.
An echocardiogram is an ultrasound imaging test of the heart that allows visualization of the heart's structures, blood flow patterns, and any abnormalities.
The electrocardiogram is a noninvasive test that records the electrical activity of the heart, which can be used to detect abnormal rhythms or conduction disturbances.
X-ray imaging of the chest can be used to assess heart size, shape, and position, as well as detect signs of heart enlargement.
An invasive procedure that involves inserting a catheter into the heart chambers and blood vessels to measure pressure, obtain blood samples, and assess cardiac function.
Tetralogy of Fallot is typically treated with surgery to repair the underlying heart defects and improve blood flow to the lungs and body. Treatment options include:
The structural abnormalities associated with Tetralogy of Fallot are corrected with open-heart surgery, referred to as intracardiac repair, which involves closing the ventricular septal defect, enlarging the pulmonary valve, and relieving obstructions of the right ventricular outflow tract.
A shunt placement or balloon valvuloplasty may be performed in some cases to temporarily improve blood flow and relieve symptoms in infants or individuals who are not candidates for complete repair.
Diuretics, beta-blockers, or prostaglandins may be prescribed to manage symptoms, reduce fluid retention, or stabilize heart rhythm before or after surgery.
Tetralogy of Fallot cannot always be prevented due to its congenital nature. However, individuals can take steps to reduce the risk of complications and improve outcomes, such as:
Regular prenatal care and appropriate screening during pregnancy can help identify and manage any underlying conditions or risk factors associated with Tetralogy of Fallot.
In order to assess their risk and make informed decisions about family planning, individuals with a family history of congenital heart defects or genetic syndromes may benefit from genetic counseling.
To reduce the risk of congenital heart defects in the developing fetus, it is important to avoid harmful substances during pregnancy, such as tobacco smoke, alcohol, certain medications, and environmental toxins.
