Timothy Syndrome
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Timothy Syndrome Overview

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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?
Distinguished in Timothy Syndrome
Dr. Anthony Nappi
Interventional Cardiology
Distinguished in Timothy Syndrome
Dr. Anthony Nappi
Interventional Cardiology

Bassett Medical Center

1 Atwell Road, 
Cooperstown, NY 
607-547-3180
Languages Spoken:
English
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. Dr. Nappi is rated as a Distinguished provider by MediFind in the treatment of Timothy Syndrome. He is also highly rated in 34 other conditions, according to our data. His clinical expertise encompasses Heart Attack, Familial Ventricular Tachycardia, Apoplexy, Aortic Valve Replacement, and Transcatheter Aortic Valve Replacement (TAVR).

Elite in Timothy Syndrome
Dr. Geoffrey Pitt
Cardiology
Elite in Timothy Syndrome
Dr. Geoffrey Pitt
Cardiology

Weill Medical College Of Cornell

520 E 70th St, 
New York,, NY 
646-962-5558
Languages Spoken:
English
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Geoffrey Pitt is a Cardiologist practicing medicine in New York,, New York. Dr. Pitt is rated as an Elite provider by MediFind in the treatment of Timothy Syndrome. He is also highly rated in 3 other conditions, according to our data. His clinical expertise encompasses Timothy Syndrome, Polysyndactyly Cardiac Malformation, Long QT Syndrome, and Brugada Syndrome.

 
 
 
 
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Elite in Timothy Syndrome
Dr. Dominic Abrams
Cardiology
Elite in Timothy Syndrome
Dr. Dominic Abrams
Cardiology

Department Of Cardiology

300 Longwood Ave, 
Boston, MA 
617-355-2079
Languages Spoken:
English
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Dominic Abrams is a Cardiologist practicing medicine in Boston, Massachusetts. Dr. Abrams is rated as an Elite provider by MediFind in the treatment of Timothy Syndrome. He is also highly rated in 33 other conditions, according to our data. His clinical expertise encompasses Long QT Syndrome, Timothy Syndrome, Heart Block, Long QT Syndrome 5, and Cardiac Ablation.

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