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

被引：6

作者：

Ganigara, Madhusudan ^{[1
]}

Prabhu, Atul ^{[1
]}

Kumar, Raghvannair Suresh ^{[1
]}

机构：

[1] Madras Med Mission, Dept Pediat Cardiol, 4-A,Dr JJ Nagar, Madras 600037, Tamil Nadu, India

来源：

ANNALS OF PEDIATRIC CARDIOLOGY | 2011年 / 4卷 / 01期

关键词：

Hypertrophic cardiomyopathy; LEOPARD syndrome; lentiginosis; PTPN11; mutation;

D O I：

10.4103/0974-2069.79631

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：74 / 76

页数：3

共 9 条

[1] Multiple lentigines syndrome (LEOPARD syndrome or progressive cardiomyopathic lentiginosis) [J].

Coppin, BD ;

Temple, IK .

JOURNAL OF MEDICAL GENETICS, 1997, 34 (07) :582-586

[2] PTPN11 gene mutations:: linking the Gln510Glu mutation to the "LEOPARD syndrome phenotype" [J].

Digilio, M. Cristina ;

Sarkozy, Anna ;

Pacileo, Giuseppe ;

Limongelli, Giuseppe ;

Marino, Bruno ;

Dallapiccola, Bruno .

EUROPEAN JOURNAL OF PEDIATRICS, 2006, 165 (11) :803-805

[3] PTPN11 Gene Mutation and Severe Neonatal Hypertrophic Cardiomyopathy: What Is the Link? [J].

Faienza, Maria Felicia ;

Giordani, Lucia ;

Ferraris, Marina ;

Bona, Gianni ;

Cavallo, Luciano .

PEDIATRIC CARDIOLOGY, 2009, 30 (07) :1012-1015

[4] PTPN11 mutations in LEOPARD syndrome [J].

Legius, E ;

Schrander-Stumpel, C ;

Schollen, E ;

Pulles-Heintzberger, C ;

Gewillig, M ;

Fryns, JP .

JOURNAL OF MEDICAL GENETICS, 2002, 39 (08) :571-574

[5] Genotype-phenotype analysis and natural history of left ventricular hypertrophy in LEOPARD syndrome [J].

Limongelli, Giuseppe ;

Sarkozy, Anna ;

Pacileo, Giuseppe ;

Calabro, Paolo ;

Digilio, Maria Cristina ;

Maddaloni, Valeria ;

Gagliardi, Giulia ;

Di Salvo, Giovanni ;

Iacomino, Maria ;

Marino, Bruno ;

Dallapiccola, Bruno ;

Calabro, Raffaele .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2008, 146A (05) :620-628

[6] Prevalence and. clinical significance of cardiovascular abnormalities in patients with the LEOPARD syndrome [J].

Limongelli, Giuseppe ;

Pacileo, Giuseppe ;

Marino, Bruno ;

DigHio, Maria Cristina ;

Sarkozy, Anna ;

Elliott, Perry ;

Versacci, Paolo ;

Calabro, Paolo ;

De Zorzi, Andrea ;

Di Salvo, Giovanni ;

Syrris, Petros ;

Patton, Michael ;

McKenna, William J. ;

Dallapiccola, Bruno ;

Calabro, Raffaele .

AMERICAN JOURNAL OF CARDIOLOGY, 2007, 100 (04) :736-741

[7] Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes [J].

Sarkozy, A ;

Conti, E ;

Seripa, D ;

Digilio, MC ;

Grifone, N ;

Tandoi, C ;

Fazio, VM ;

Di Ciommo, V ;

Marino, B ;

Pizzuti, A ;

Dallapiccola, B .

JOURNAL OF MEDICAL GENETICS, 2003, 40 (09) :704-708

[8] Leopard syndrome [J].

Sarkozy, Anna ;

Digilio, Maria Cristina ;

Dallapiccola, Bruno .

ORPHANET JOURNAL OF RARE DISEASES, 2008, 3 (1)

[9] MULTIPLE LENTIGINES SYNDROME - CASE-REPORT AND REVIEW OF LITERATURE [J].

VORON, DA ;

HATFIELD, HH ;

KALKHOFF, RK .

AMERICAN JOURNAL OF MEDICINE, 1976, 60 (03) :447-456

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