Pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: the multifaceted consequences of PTPN11 mutations

被引：9

作者：

Calcagni, Giulio ^{[1
,2
]}

Digilio, Maria Cristina ^{[2
,3
]}

Marino, Bruno ^{[4
]}

Tartaglia, Marco ^{[2
,3
]}

机构：

[1] Bambino Gesu Pediat Hosp, Dept Pediat Cardiol & Cardiac Surg, Cardiol Unit, Viale San Paolo 15, I-00146 Rome, Italy

[2] Res Inst, Viale San Paolo 15, I-00146 Rome, Italy

[3] Bambino Gesu Pediat Hosp, Genet & Rare Dis Res Div, Viale San Paolo 15, I-00146 Rome, Italy

[4] Sapienza Univ, Dept Pediat, Pediat Cardiol, Viale Regina Elena 324, I-00161 Rome, Italy

来源：

ORPHANET JOURNAL OF RARE DISEASES | 2019年 / 14卷 / 1期

关键词：

PI3K-AKT-mTOR; MAPK; Hypertrophic cardiomyopathy; RASopathy; LEOPARD-SYNDROME; NOONAN-SYNDROME; CLINICAL-DIAGNOSIS; 1ST YEAR; GENE; INFANT;

D O I：

10.1186/s13023-019-1151-0

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页数：4

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