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LEOPARD syndrome and hypertrophic obstructive cardiomyopathy: a case report

Ergun Cetinkaya1, Nazlihan Günal, Nilgün Sönmez

  • 1Social Security Children's Hospital, Ankara, Turkey.

The Turkish Journal of Pediatrics
|January 12, 2005
PubMed

Insights

LEOPARD syndrome, a rare genetic disorder, can cause hypertrophic cardiomyopathy. This case study details a nine-year-old boy diagnosed with both LEOPARD syndrome and hypertrophic obstructive cardiomyopathy.

Area of Science:

  • Genetics
  • Cardiology
  • Pediatrics

Background:

  • LEOPARD syndrome is a rare autosomal dominant disorder with multisystemic features including lentiginosis, ocular hypertelorism, abnormal genitalia, growth retardation, sensorineural deafness, and cardiac abnormalities.
  • Hypertrophic cardiomyopathy is frequently associated with LEOPARD syndrome, though not always explicitly cited.

Observation:

  • A nine-year-old boy presented with symptoms consistent with LEOPARD syndrome.
  • The patient was diagnosed with hypertrophic obstructive cardiomyopathy.

Findings:

  • This study highlights a pediatric case of LEOPARD syndrome co-occurring with hypertrophic obstructive cardiomyopathy.
  • The case underscores the cardiac manifestations within the LEOPARD syndrome spectrum.

Implications:

  • Early recognition of cardiac involvement in LEOPARD syndrome is crucial for timely management.
  • Further research may elucidate the genetic and molecular links between LEOPARD syndrome and hypertrophic cardiomyopathy.

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