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Updated: Dec 22, 2025

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
Published on: March 23, 2022
[LEOPARD syndrome]
S A Gabrusenko1, M A Saidova1, O V Stukalova1
1Russian Cardiology Research and Production Complex, Ministry of Health of Russia.
Abstract:
LEOPARD syndrome with multiple lentigines (cardiomyopathic lentiginosis) is a rare, genetically predetermined disease with autosomal dominant inheritance. Prevalence of this syndrome is unknown. One of pathognomonic clinical manifestations of this syndrome is the presence of multiple lentiginous pigment spots all over the body. The most common cardiac manifestation (approximately 80%) is myocardial hypertrophy. We presented a rare clinical case of detecting LEOPARD syndrome with multiple lentigines in a 32-year old female patient with major manifestations evident as pronounces morpho-functional alterations, myocardial hypertrophy, and heart rhythm disorders.
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