Year : 2011  |  Volume : 4  |  Issue : 1  |  Page : 74--76

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


Madhusudan Ganigara, Atul Prabhu, Raghvannair Suresh Kumar 
 Department of Pediatric Cardiology, Madras Medical Mission, 4-A, Dr. JJ Nagar, Mugappair, Chennai - 600 037, Tamil Nadu, India

Correspondence Address:
Madhusudan Ganigara
Department of Pediatric Cardiology, Madras Medical Mission, 4-A, Dr. JJ Nagar, Mugappair, Chennai - 600 037, Tamil Nadu
India

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.


How to cite this article:
Ganigara M, Prabhu A, Kumar RS. LEOPARD syndrome in an infant with severe hypertrophic cardiomyopathy and PTPN11 mutation.Ann Pediatr Card 2011;4:74-76


How to cite this URL:
Ganigara M, Prabhu A, Kumar RS. LEOPARD syndrome in an infant with severe hypertrophic cardiomyopathy and PTPN11 mutation. Ann Pediatr Card [serial online] 2011 [cited 2019 Aug 22 ];4:74-76
Available from: http://www.annalspc.com/article.asp?issn=0974-2069;year=2011;volume=4;issue=1;spage=74;epage=76;aulast=Ganigara;type=0