LEOPARD syndrome in an infant with severe hypertrophic cardiomyopathy and PTPN11 mutation

Abstract

In LEOPARD syndrome, mutations affecting exon 13 of the PTPN11 gene have been correlated with a rapidly progressive severe biventricular obstructive hypertrophic cardiomyopathy (HCM). This is a report of early onset severe HCM in an infant with LEOPARD syndrome and an unusual mutation in exon 13, showing genotype-phenotype correlation.

Keywords

• Hypertrophic cardiomyopathy
• LEOPARD syndrome
• lentiginosis
• PTPN11 mutation