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[LEOPARD syndrome]
S A Gabrusenko1, M A Saidova1, O V Stukalova1
1Russian Cardiology Research and Production Complex, Ministry of Health of Russia.
Kardiologiia
|May 8, 2020
Summary
LEOPARD syndrome, a rare genetic disorder, presents with multiple lentigines and often causes myocardial hypertrophy. This case highlights significant cardiac and skin manifestations in a 32-year-old female patient.
Area of Science:
- Genetics
- Cardiology
- Dermatology
Background:
- LEOPARD syndrome is a rare autosomal dominant disorder.
- Characterized by multiple lentigines and potential cardiac abnormalities.
- Prevalence remains largely unknown.
Observation:
- A rare clinical case of LEOPARD syndrome is presented.
- The patient is a 32-year-old female.
- Major manifestations included pronounced morpho-functional alterations, myocardial hypertrophy, and heart rhythm disorders.
Findings:
- The case confirms LEOPARD syndrome with multiple lentigines.
- Significant myocardial hypertrophy was observed, a common cardiac manifestation.
- Heart rhythm disorders were also a key finding.
Implications:
- This case underscores the importance of recognizing LEOPARD syndrome's diverse clinical spectrum.
- Highlights the significant cardiac impact, particularly myocardial hypertrophy.
- Emphasizes the need for comprehensive patient evaluation in rare genetic disorders.
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