Dec 06, 2018
The participant was diagnosed with type I diabetes at age 9. At age 10, he was diagnosed with involuntary urination and was also referred to a cardiology clinic because of a sudden death in the family. At the time of evaluation, his testing was normal. However, while playing basketball at age 14, he experienced chest pain, jaw pain, and dizziness. He was diagnosed with arrhythmogenic right ventricular cardiomyopathy (ARVC) and an implantable cardioverter defibrillator (ICD) was placed four days later. The participant was also diagnosed with ADHD and has had learning problems in school.
The participant’s older brother was also referred to a cardiology clinic after a sudden death in the family. His original testing came back normal as well; however, at age 19 he had an MRI that was consistent with ARVC. He has also been diagnosed with ADHD.
Younger brother only:
Older brother only:
Clinicians and researchers are investigating the following genetic changes to see if they are causing the participant’s symptoms:
*Note: the participant was found to have bi-allelic variants in the TAX1BP3 gene.
If this participant sounds like you or someone you know, please contact us!
The information provided here is based on individual patient experiences. This information is not meant to substitute for advice of a qualified health care provider. Please do not use this information to diagnose or develop a treatment plan for a health problem or disease without consulting a qualified health care provider.
Any mention of products or services is not meant as a recommendation of the products or services. Please discuss any options with a qualified health care provider.
Developments in medical research may impact the information that appears here. No assurance can be given that the information in this site will include the most recent findings or developments.
The use of any information provided on this site is solely at your own risk.