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Participant 099


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Male, age 15 with arrhythmogenic right ventricular cardiomyopathy thought to be caused by genetic changes in the TAX1BP3 gene

Date of Report

Dec 06, 2018

Description

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.

Symptoms / Signs

Shared symptoms:

  • Arrhythmogenic right ventricular cardiomyopathy (ARVC)
  • Attention deficit hyperactivity disorder (ADHD)
  • Short distance between nose and lip (short philtrum)

Younger brother only:

  • Type I diabetes mellitus
  • Involuntary urination (enuresis)
  • Difficulty speaking (speech apraxia)
  • Learning disability

Older brother only:

  • Obesity
  • Stretch marks (striae distensae)
  • Near-sightedness (myopia)
  • Depression
  • Anxiety
Current Treatments
  • Insulin – type I diabetes mellitus
  • ICD – heart condition
  • Nadolol – heart condition
Prior Treatments
Considered treatments
  • Individualized Education Program (IEP)
Previously Considered Diagnoses
Other Photographs
Genetic Variants of Interest

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.

Gene
Inheritance Pattern
Position
Transcript
DNA Change
Protein Change
Autosomal Recessive
Contact

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