About Tetralogy of Fallot

What is Tetralogy of Fallot?
Tetralogy of Fallot (TOF) is a congenital heart disease (CHD) characterized by a variety of lesions that relate to the following problems. The generic issue is an obstruction of blood flow from the heart to the lungs.

  • There is a hole between the two lower chambers of the heart, Ventricular Septal Defect (VSD)
  • The aorta overrides the two ventricles. 
  • The pulmonary artery is weakened or not present. (Pulmonary stenosis and Pulmonary Atresia, respectively).
  • The right lower chamber's muscle is unusually large (Right Ventricular Hypertrophy) because it requires more effort to oxygenate the blood. 

How does it compare to a normal heart?
Figure A shows the structure and blood flow in the interior of a normal heart. Figure B shows a heart with the four defects of tetralogy of Fallot.
Tetralogy of Fallot

Video of how a healthy heart functions (Saint Jude Hospital)

Image of a healthy heart (http://www.themedica.com/articles/2008/03/8-effective-ways-to-have-a-hea.html)
What causes Tetralogy of Fallot?
TOF is rare and present during the formation of the heart.  It is unknown as to what causes TOF, but it is likely paired with a genetic disorder (such as Down Syndrome or 22q11.2 deletion).  A perfectly healthy set of parents can have a child with Tetralogy of Fallot.

What does it mean for the baby (pre-natal)?
Tetralogy of Fallot does not cause the baby pain or discomfort while in the womb.  The baby has no use for lungs, until birth.  The baby can have a heart beat within a standard range.  Pediatric doctors and cardiologists will utilize ultrasounds in attempts to pre-diagnose the disease.

What does it mean for the baby (neo-natal)?
Sometime after birth, the baby will likely require an open heart surgery.  Directly after birth, the cardiologists can perform more accurate, visual tests to obtain a full diagnosis of the baby's heart lesions. The cardiologists can also prescribe medicine, to help the baby maintain proper blood flow to the lungs.

What does a life of Tetralogy of Fallot look like?
The congenital heart disease will be a part of the baby's entire life.  There will likely be multiple surgeries as the baby grows.  The child will likely experience "Tet spells" in which they become weak and blueish due to blood circulating through the body, yet not oxygenated.  I'm not quite sure how difficult athletics will become.

Are there famous people with Tetralogy of Fallot?
Sean White, olympic gold medalist for snowboarding and professional skateboarder, is known to have a form of Tetralogy of Fallot.  Sean underwent two open heart surgeries before turning 1 year old.

What is the probability of a baby with TOF dying shortly after birth (less than a year)?
The probability of death right after birth is contingent upon the surgery.  It's likely that a surgery will need to occur in the first month.  It seems between 5-10% probability that a death would occur within the first year (based on searching the internet).

What is the probability of a baby with TOF dying later in life (10, 20, 30 years)?
The probability of death seems much lower after the first years in life.  This study shows that there is an increased risk of death, in the mid 30's, but it's hard to determine what causes the deaths.  It seems clear that surgery will be needed, depending on how the corrective procedures are able to hold up - after years and years. http://content.onlinejacc.org/article.aspx?articleid=1124242 

(more information will be posted as we understand it, feel free to ask questions)