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Nov 18, 2013

New and Emerging Research on Tetralogy of Fallot

Paper outlines “hot topics” that may further our understanding of the rare birth defect.

Tetralogy of Fallot is a rare birth defect affecting one in 3,500 births but our understanding of this condition is far from ideal. The good news? There are several irons in the fire when it comes to research on Tetralogy of Fallot, and these “hot topics” were recently outlined in a paper published in the Journal of the American College of Cardiology.

The first topic at hand is genetics. We know that many medical conditions are genetic and family history can play a big role in whether an individual develops a certain condition, like heart disease. But when it comes to Tetralogy of Fallot, research has shown that having a family history of this birth defect only increases risk by about 3%. Nonetheless, further research is needed to better understand the impact of genetics on risk for Tetralogy of Fallot.

The next hot topic included the use of imaging technology to assess the cardiovascular health of patients with Tetralogy of Fallot. Cardiovascular magnetic resonance is considered the gold-standard in assessing patients with Tetralogy of Fallot, as it provides important information about how the patient’s heart is functioning and what treatments might be necessary to reduce risk of complications. However, there have been recent advances in echocardiography—which uses sound waves to create pictures of your heart—that may also be helpful in assessing patients with this condition. Echocardiography can now create three-dimensional imaging (3D echocardiography) of the heart, which may prove very useful for patients with Tetralogy of Fallot.

And finally, the last hot topic in the research of Tetralogy of Fallot is possible treatments to minimize risk of complications. Patients with Tetralogy of Fallot are at increased risk for arrhythmias (irregular heartbeat) and sudden cardiac arrest, both of which can be life-threatening. Research has helped to identify new treatments that can minimize risk for complications, but further studies are needed to better understand optimal therapies for Tetralogy of Fallot.

Overall, experts suggest that close monitoring is necessary to manage patients with Tetralogy of Fallot and give them the best shot at disability-free survival. And with further research, authors hope that we can further our understanding of this rare birth defect, improving both quality of life and outcomes for patients with Tetralogy of Fallot.
Read the full paper in the Journal of the American College of Cardiology

Questions for You to Consider

  • What is Tetralogy of Fallot?
  • Tetralogy of Fallot is a rare type of congenital heart defect that affects roughly one in 3,500 births a year in the United States. This type of defect keeps the body from getting the oxygen-rich blood it needs and can cause infants and children to have blue-tinged skin. Tetralogy of Fallot is usually diagnosed during infancy or soon after, but sometimes it’s not detected until later in life.
  • How is Tetralogy of Fallot treated?
  • Babies diagnosed with Tetralogy of Fallot are typically treated with corrective surgery. However, patients with this condition require ongoing monitoring to prevent complications later in life.

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