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.
Shared symptoms:
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!