PTPN11 mutation associated with aortic dilation and hypertrophic cardiomyopathy in a pediatric patient with noonan syndrome

John Jefferies, John W. Belmont, Ricardo Pignatelli, Jeffrey Towbin, William J. Craigen

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

Noonan syndrome is an autosomal dominant disease that manifests a wide variety of clinical characteristics. The syndrome is also associated with some cardiac defects. Half of all Noonan syndrome cases are caused by mutations in the PTPN11 gene, but only limited data are available regarding aortic involvement in these cases. No reports exist regarding PTPN11 mutations in association with both aortic dilation and hypertrophic cardiomyopathy. We describe an 8-year-old girl who had Noonan syndrome involving a PTPN11 mutation, hypertrophic cardiomyopathy, main pulmonary artery dilation, and aortic root dilation. To our knowledge, this is the first case in which all three of these cardiovascular features have been observed in a single patient with Noonan syndrome.

Original languageEnglish (US)
Pages (from-to)114-116
Number of pages3
JournalPediatric Cardiology
Volume31
Issue number1
DOIs
StatePublished - Jan 1 2010
Externally publishedYes

Fingerprint

Noonan Syndrome
Hypertrophic Cardiomyopathy
Dilatation
Pediatrics
Mutation
Pulmonary Artery
Genes

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Cardiology and Cardiovascular Medicine

Cite this

PTPN11 mutation associated with aortic dilation and hypertrophic cardiomyopathy in a pediatric patient with noonan syndrome. / Jefferies, John; Belmont, John W.; Pignatelli, Ricardo; Towbin, Jeffrey; Craigen, William J.

In: Pediatric Cardiology, Vol. 31, No. 1, 01.01.2010, p. 114-116.

Research output: Contribution to journalArticle

@article{2aa2d35f484f4886a605569ed1eb3e92,
title = "PTPN11 mutation associated with aortic dilation and hypertrophic cardiomyopathy in a pediatric patient with noonan syndrome",
abstract = "Noonan syndrome is an autosomal dominant disease that manifests a wide variety of clinical characteristics. The syndrome is also associated with some cardiac defects. Half of all Noonan syndrome cases are caused by mutations in the PTPN11 gene, but only limited data are available regarding aortic involvement in these cases. No reports exist regarding PTPN11 mutations in association with both aortic dilation and hypertrophic cardiomyopathy. We describe an 8-year-old girl who had Noonan syndrome involving a PTPN11 mutation, hypertrophic cardiomyopathy, main pulmonary artery dilation, and aortic root dilation. To our knowledge, this is the first case in which all three of these cardiovascular features have been observed in a single patient with Noonan syndrome.",
author = "John Jefferies and Belmont, {John W.} and Ricardo Pignatelli and Jeffrey Towbin and Craigen, {William J.}",
year = "2010",
month = "1",
day = "1",
doi = "10.1007/s00246-009-9537-8",
language = "English (US)",
volume = "31",
pages = "114--116",
journal = "Pediatric Cardiology",
issn = "0172-0643",
publisher = "Springer New York",
number = "1",

}

TY - JOUR

T1 - PTPN11 mutation associated with aortic dilation and hypertrophic cardiomyopathy in a pediatric patient with noonan syndrome

AU - Jefferies, John

AU - Belmont, John W.

AU - Pignatelli, Ricardo

AU - Towbin, Jeffrey

AU - Craigen, William J.

PY - 2010/1/1

Y1 - 2010/1/1

N2 - Noonan syndrome is an autosomal dominant disease that manifests a wide variety of clinical characteristics. The syndrome is also associated with some cardiac defects. Half of all Noonan syndrome cases are caused by mutations in the PTPN11 gene, but only limited data are available regarding aortic involvement in these cases. No reports exist regarding PTPN11 mutations in association with both aortic dilation and hypertrophic cardiomyopathy. We describe an 8-year-old girl who had Noonan syndrome involving a PTPN11 mutation, hypertrophic cardiomyopathy, main pulmonary artery dilation, and aortic root dilation. To our knowledge, this is the first case in which all three of these cardiovascular features have been observed in a single patient with Noonan syndrome.

AB - Noonan syndrome is an autosomal dominant disease that manifests a wide variety of clinical characteristics. The syndrome is also associated with some cardiac defects. Half of all Noonan syndrome cases are caused by mutations in the PTPN11 gene, but only limited data are available regarding aortic involvement in these cases. No reports exist regarding PTPN11 mutations in association with both aortic dilation and hypertrophic cardiomyopathy. We describe an 8-year-old girl who had Noonan syndrome involving a PTPN11 mutation, hypertrophic cardiomyopathy, main pulmonary artery dilation, and aortic root dilation. To our knowledge, this is the first case in which all three of these cardiovascular features have been observed in a single patient with Noonan syndrome.

UR - http://www.scopus.com/inward/record.url?scp=75549086149&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=75549086149&partnerID=8YFLogxK

U2 - 10.1007/s00246-009-9537-8

DO - 10.1007/s00246-009-9537-8

M3 - Article

VL - 31

SP - 114

EP - 116

JO - Pediatric Cardiology

JF - Pediatric Cardiology

SN - 0172-0643

IS - 1

ER -