Timothy Syndrome
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Learn About Timothy Syndrome

What is the definition of Timothy Syndrome?
Timothy syndrome is a disorder that affects the heart, digits (toes and fingers), and nervous system (brain and nerves). It is a type of long QT syndrome. Long QT syndrome refers to a prolonged QT interval measurement seen on the electrocardiogram. Symptoms of Timothy syndrome include fusion of the skin between fingers or toes (syndactyly), distinctive facial features, and congenital heart defects. Additional symptoms may include developmental delay, intellectual disability, and autism spectrum disorders. There are two forms of Timothy syndrome, classified based on signs and symptoms. Type 1, known as classic type, includes all of the symptoms described above. Type 2, or atypical type, causes a more severe form of long QT syndrome and does not appear to include syndactyly. Both types are caused by genetic changes in the CACNA1C gene and are inherited in an autosomal dominant manner.
What are the alternative names for Timothy Syndrome?
  • Timothy syndrome
  • LQT8
  • Long QT syndrome 8
  • Long QT syndrome with syndactyly
Who are the top Timothy Syndrome Local Doctors?
Elite in Timothy Syndrome
Elite in Timothy Syndrome

Weill Medical College Of Cornell

520 E 70th St, 
New York,, NY 
Languages Spoken:
English

Geoffrey Pitt is a Cardiologist in New York,, New York. Dr. Pitt is rated as an Elite provider by MediFind in the treatment of Timothy Syndrome. His top areas of expertise are Timothy Syndrome, Polysyndactyly Cardiac Malformation, Long QT Syndrome, and Low Potassium Level.

Elite in Timothy Syndrome
Elite in Timothy Syndrome

Department Of Cardiology

300 Longwood Ave, 
Boston, MA 
Languages Spoken:
English

Dominic Abrams is a Cardiologist in Boston, Massachusetts. Dr. Abrams is rated as an Elite provider by MediFind in the treatment of Timothy Syndrome. His top areas of expertise are Long QT Syndrome, Timothy Syndrome, Heart Block, Long QT Syndrome 5, and Cardiac Ablation.

 
 
 
 
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Anthony Nappi
Distinguished in Timothy Syndrome
Interventional Cardiology
Distinguished in Timothy Syndrome
Interventional Cardiology

Bassett Medical Center

1 Atwell Road, 
Cooperstown, NY 
Languages Spoken:
English

. Dr. Nappi is rated as a Distinguished provider by MediFind in the treatment of Timothy Syndrome. His top areas of expertise are Heart Attack, Familial Ventricular Tachycardia, Apoplexy, Aortic Valve Replacement, and Transcatheter Aortic Valve Replacement (TAVR).

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center