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Asymptomatic young man with Danon disease.

Jiwon Kim1, Parag Parikh1, Mohammad Mahboob1

  • 1Departments of Cardiology (Drs. Arrighi, Kim, Mahboob, and Parikh) and Diagnostic Imaging (Dr. Atalay), Rhode Island Hospital, Warren Alpert Medical School of Brown University, Providence, Rhode Island 02903; and Division of Cardiology (Drs. Maron and Rowin), Tufts Medical Center, Boston, Massachusetts 02111.

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Summary

Danon disease, a genetic disorder, can present atypically. This case highlights an asymptomatic individual with left ventricular hypertrophy, emphasizing the need for early diagnosis and genetic counseling.

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Area of Science:

  • Genetics
  • Cardiology
  • Neurology

Background:

  • Danon disease is a rare, X-linked genetic disorder.
  • It is caused by mutations in the LAMP2 gene.
  • Typical symptoms include left ventricular hypertrophy, intellectual disability, and myopathy.

Observation:

  • A 19-year-old male presented with asymptomatic left ventricular hypertrophy.
  • He lacked intellectual disability and significant skeletal myopathy.
  • This presentation is atypical for Danon disease.

Findings:

  • The patient had Danon disease despite the absence of typical symptoms.
  • LAMP2 gene mutations lead to autophagic debris accumulation.
  • Unexplained left ventricular hypertrophy can be an indicator.

Implications:

  • Accurate diagnosis of unexplained left ventricular hypertrophy is crucial.
  • Early diagnosis facilitates appropriate treatment.
  • Genetic counseling is essential for affected families.