Related Experiment Video

Updated: Aug 17, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

Cardiomyopathic lentiginosis/LEOPARD syndrome presenting as sudden cardiac arrest

A Woywodt1, J Welzel, H Haase

  • 1Department of Cardiology, University of Luebeck School of Medicine, Germany.

Chest
|May 22, 1998
PubMed

Insights

This case report details a rare genetic syndrome presenting with cardiac issues and skin lesions. Early recognition of disseminated lentiginosis is crucial for identifying associated life-threatening conditions.

Area of Science:

  • Cardiology
  • Genetics
  • Dermatology

Background:

  • Disseminated lentiginosis is a rare condition associated with various systemic abnormalities.
  • Cardiomyopathic lentiginosis syndrome is a rare genetic disorder with multisystemic manifestations.

Observation:

  • A young man with multiple pigmented skin lesions collapsed due to ventricular fibrillation.
  • Diagnostic workup revealed hypertrophic cardiomyopathy, subaortic tunnel, and other features consistent with cardiomyopathic lentiginosis syndrome.

Findings:

  • The patient survived ventricular fibrillation after receiving an implantable pacer-cardioverter-defibrillator.
  • This case highlights the first reported survival from ventricular fibrillation in a patient with this rare syndrome.

Implications:

  • Disseminated lentiginosis warrants thorough clinical evaluation due to potential association with significant morbidity and sudden death.
  • Clinicians should consider this rare syndrome in patients presenting with multiple lentigines and cardiac abnormalities.

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