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LEOPARD syndrome in an infant with severe hypertrophic cardiomyopathy and PTPN11 mutationKeywords: Hypertrophic cardiomyopathy , LEOPARD syndrome , lentiginosis , 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.
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