TODAY'S SADS Foundation Facebook Live Session: Timothy Syndrome

Apr 27, 2020 | Katrina Sorensen, Research Coordinator | @katrinasorensen


Join us TODAY, Monday, April 27th, at 1:20 PM CST for a special Facebook Live session hosted by the SADS Foundation devoted to families with Timothy Syndrome. The special guests in this episode will be Katherine Timothy for whom Timothy Syndrome is named and Drs. Maully Shah and Paul Thonton.

To tune in, visit the SADS Foundation Event page on Facebook! You do not have to be a member of Facebook to watch this event.

Some quick facts about Timothy Syndrome:

  • Timothy Syndrome is a rare multi-system genetic syndrome that includes marked QT prolongation in the heart.
  • There are two types of Timothy Syndrome: Type 1 (TS1) and Type 2 (TS2).
    • Type 1 Timothy Syndrome (TS1) stems from a pathogenic variant in the CACNA1C-encoded L-type calcium channel. This channel is present in many different tissues of the body besides the heart. Because of this, patients with TS1 can also have webbed fingers and/or toes (a condition known as syndactyly).
    • Type 2 Timothy Syndrome (TS2) is caused by a different mutation and is not associated with syndactyly.
  • The cardiac symptoms of Timothy Syndrome are similar to long QT syndrome and can include fainting, fainting followed by generalized seizures, and sudden cardiac death.

For more information, visit the SADS Foundations' Timothy Syndrome Alliance page or check out their Timothy Syndrome brochure.

For up-to-date information and when to tune in to the next SADS Foundation Facebook Live session, please follow Dr. Ackerman and the Windland Smith Rice Genetic Heart Rhythm Clinic on Twitter by clicking the links below.


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