Tetralogy of Fallot with pulmonary atresia is a congenital heart defect that prevents blood from flowing to your lungs. Treatment typically includes surgery during infancy.
According to the Centers for Disease Control and Prevention (CDC), approximately
TOFPA is a congenital heart defect that makes it difficult for blood low in oxygen to reach your lungs. It may be suspected during pregnancy ultrasounds or detected by signs of low oxygen after birth.
Read on to learn more about TOFPA and how it’s treated.
TOFPA is a rare and serious form of congenital heart disease.
It includes
- Ventricular septal defect (VSD): A VSD is a hole in the wall between the two lower chambers of your heart.
- Pulmonary stenosis: Pulmonary stenosis is a narrowing of your pulmonary valve.
- Enlarged aortic valve: An enlarged aortic valve receives blood from both of the lower chambers of your heart instead of one.
- Ventricular hypertrophy: Ventricular hypertrophy is a thickening in the muscular wall in the lower right chamber of your heart.
Individuals with TOFPA have a severe form of TOF where blood doesn’t flow from their heart through the pulmonary artery to their lungs. When TOFPA is more severe, the only source of blood flow to your lungs is through large blood vessels called major aortopulmonary collateral arteries (MAPCAs).
Individuals with TOFPA may have a range of different artery configurations, and the amount of MAPCAs can vary. This can make treating TOFPA more complex.
Sometimes, a doctor can detect signs of TOFPA on an ultrasound during pregnancy. Infants can also show symptoms of the condition once they’re born,
- bluish skin, lips, or nail color
- shallow or rapid breathing
- difficulty latching or feeding
- extreme sleepiness
TOF
TOFPA may also be diagnosed shortly after birth. During the immediate newborn exam, a doctor will look for bluish skin, difficulty breathing, or an irregular heart rate.
They might also use a newborn pulse oximetry screening, which is a device that measures blood oxygen levels. An echocardiogram may be used to help confirm a TOFPA diagnosis.
If your infant receives a diagnosis of TOFPA, a doctor will typically recommend surgery to improve blood flow to their lungs.
The goals of surgery for someone with TOFPA include establishing blood flow to their lungs from the right ventricle and closing the VSD. While this may be completed in one surgery, it sometimes requires multiple.
Follow-up surgeries and monitoring will typically be required as your child ages. Individuals with TOFPA are at a higher risk of needing future treatment than those with less severe forms of TOF.
Without surgery, it’s estimated that only 8% of individuals with TOFPA will survive 10 years. So, surgery is an essential part of a successful treatment and management plan.
After initial surgeries, the long-term survival expectancy is similar. Despite the variety of potential surgeries, there’s a 10-year survival rate of approximately 80% for those with TOFPA.
If you or your child has TOFPA, it’s important to meet with doctors as recommended for monitoring and any necessary follow-up surgeries.
Even if you haven’t received a diagnosis of TOFPA, it’s always important to contact a doctor if you’re having difficulty breathing or having symptoms of cardiac complications. These can include:
- shallow or rapid breathing
- bluish or grayish skin, lips, or nail beds
- chest or shoulder pain
- dizziness or fainting
TOFPA is a severe form of congenital heart disease where blood low in oxygen isn’t able to easily pass to your lungs. Symptoms of the condition typically appear shortly after birth and can include a bluish tint to your baby’s skin, shallow breathing, and trouble feeding.
Individuals with TOFPA will typically need to undergo surgery as an infant. If your child receives a diagnosis of TOFPA, it’s important to work with doctors throughout their life to ensure that they stay as healthy as possible.