Pediatric patients with RASopathy-associated hypertrophic cardiomyopathy

the multifaceted consequences of PTPN11 mutations

Research output: Contribution to journalArticle

Abstract

The concomitant occurrence of hypertrophic cardiomyopathy and congenital heart defect in patients with RASopathies has previously been reported as associated to a worse clinical outcome, particularly closed to cardiac surgery. Different mechanisms of disease have been demonstrated to be associated with the two classes of PTPN11 mutations underlying Noonan syndrome and Noonan syndrome with multiple lentigines (also known as LEOPARD syndrome). Although differential diagnosis between these two syndromes could be difficult, particularly in the first age of life, we underline the relevance in discriminating these two disorders in terms of affected signaling pathway to allow an effective targeted pharmacological treatment.

Original languageEnglish
Pages (from-to)163
JournalOrphanet Journal of Rare Diseases
Volume14
Issue number1
DOIs
Publication statusPublished - Jul 5 2019

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LEOPARD Syndrome
Hypertrophic Cardiomyopathy
Noonan Syndrome
Pediatrics
Mutation
Congenital Heart Defects
Thoracic Surgery
Differential Diagnosis
Pharmacology
Therapeutics

Cite this

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title = "Pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: the multifaceted consequences of PTPN11 mutations",
abstract = "The concomitant occurrence of hypertrophic cardiomyopathy and congenital heart defect in patients with RASopathies has previously been reported as associated to a worse clinical outcome, particularly closed to cardiac surgery. Different mechanisms of disease have been demonstrated to be associated with the two classes of PTPN11 mutations underlying Noonan syndrome and Noonan syndrome with multiple lentigines (also known as LEOPARD syndrome). Although differential diagnosis between these two syndromes could be difficult, particularly in the first age of life, we underline the relevance in discriminating these two disorders in terms of affected signaling pathway to allow an effective targeted pharmacological treatment.",
author = "Giulio Calcagni and Digilio, {Maria Cristina} and Bruno Marino and Marco Tartaglia",
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AU - Calcagni, Giulio

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AU - Marino, Bruno

AU - Tartaglia, Marco

PY - 2019/7/5

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AB - The concomitant occurrence of hypertrophic cardiomyopathy and congenital heart defect in patients with RASopathies has previously been reported as associated to a worse clinical outcome, particularly closed to cardiac surgery. Different mechanisms of disease have been demonstrated to be associated with the two classes of PTPN11 mutations underlying Noonan syndrome and Noonan syndrome with multiple lentigines (also known as LEOPARD syndrome). Although differential diagnosis between these two syndromes could be difficult, particularly in the first age of life, we underline the relevance in discriminating these two disorders in terms of affected signaling pathway to allow an effective targeted pharmacological treatment.

U2 - 10.1186/s13023-019-1151-0

DO - 10.1186/s13023-019-1151-0

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