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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?
14100 Fivay Rd, 
Hudson, FL 
 (0.4 mi)
Languages Spoken:
English, Greek, Spanish
Accepting New Patients
Offers Telehealth

Christos Pitarys is a Cardiologist in Hudson, Florida. Dr. Pitarys and is rated as an Experienced provider by MediFind in the treatment of Timothy Syndrome. His top areas of expertise are Hypertensive Heart Disease, Coronary Heart Disease, Arrhythmias, Heart Bypass Surgery, and Coronary Artery Bypass Graft (CABG). Dr. Pitarys is currently accepting new patients.

Cardiology | Hospital Medicine
Cardiology | Hospital Medicine
5041 Westshore Dr, 
New Port Richey, FL 
 (9.2 mi)
Languages Spoken:
English
Accepting New Patients

Khaja Zaki is a Cardiologist and a Hospital Medicine provider in New Port Richey, Florida. Dr. Zaki and is rated as an Experienced provider by MediFind in the treatment of Timothy Syndrome. His top areas of expertise are Angina, Coronary Heart Disease, Atherosclerosis, and Acute Coronary Syndrome. Dr. Zaki is currently accepting new patients.

 
 
 
 
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Cardiology | Hospital Medicine
Cardiology | Hospital Medicine

Cardiovascular Institute Of Central Florida LLC

2111 Sw 20th Pl, 
Ocala, FL 
 (64.3 mi)
Languages Spoken:
English
Accepting New Patients
Offers Telehealth

Mohit Gupta is a Cardiologist and a Hospital Medicine provider in Ocala, Florida. Dr. Gupta and is rated as an Experienced provider by MediFind in the treatment of Timothy Syndrome. His top areas of expertise are Venous Insufficiency, Stasis Dermatitis and Ulcers, Cardiomyopathy, Nephrectomy, and Prostatectomy. Dr. Gupta is currently accepting new patients.

What are the latest Timothy Syndrome Clinical Trials?
Universal Genomic Newborn Screening in the Wallonia-Brussels Federation: Baby Detect

Summary: Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions. With a simple blood test, rare genetic conditions can be easily detected, and the early start of transformative treatment will help avoid severe disabilities and increase the quality of life. Baby Detect Project is an innovative NBS program using a pane...

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Who are the sources who wrote this article ?

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

What are the Latest Advances for Timothy Syndrome?