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- Title
Pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: the multifaceted consequences of PTPN11 mutations.
- Authors
Calcagni, Giulio; Digilio, Maria Cristina; Marino, Bruno; Tartaglia, Marco
- 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.
- Subjects
HYPERTROPHIC cardiomyopathy; CONGENITAL heart disease; NOONAN syndrome; THERAPEUTICS; CARDIAC surgery
- Publication
Orphanet Journal of Rare Diseases, 2019, Vol 14, Issue 1, pN.PAG
- ISSN
1750-1172
- Publication type
letter
- DOI
10.1186/s13023-019-1151-0