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

Madhusudan Ganigara; Atul Prabhu; Raghvannair Suresh Kumar

doi:10.4103/0974-2069.79631

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

Ann Pediatr Cardiol. 2011 Jan;4(1):74-6. doi: 10.4103/0974-2069.79631.

Authors

Madhusudan Ganigara¹, Atul Prabhu, Raghvannair Suresh Kumar

Affiliation

¹ Department of Pediatric Cardiology, Madras Medical Mission, 4-A, Dr. JJ Nagar, Mugappair, Chennai - 600 037, Tamil Nadu, India.

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; PTPN11 mutation; lentiginosis.

Publication types

Case Reports