Cardiac imaging in RASopathies/mitogen activated protein kinase syndromes

  • Rita Gravino | ritagravino@virgilio.it UOSD Cardiologia Riabilitativa Intensiva e Scompenso, Seconda Università di Napoli, Ospedale Monaldi, Napoli, Italy.
  • Giuseppe Pacileo UOSD Cardiologia Riabilitativa Intensiva e Scompenso, Seconda Università di Napoli, Ospedale Monaldi, Napoli, Italy.

Abstract

RASopathies include a spectrum of disorders due to dysregulation of RAS/mitogen activated protein kinase pathway that plays an essential role in the control of the cell cycle and differentiation. As a consequence, its dysregulation has profound developmental consequences, in particular cardiac malformations. RASopathies with cardiac features are: Noonan syndrome, multiple lentigines syndrome, cardio-faciocutaneous syndrome, Costello syndrome, neurofibromatosis- 1, Legius syndrome, neurofibromatosis- Noonan syndrome. The former syndromes are associated with a high rate of cardiac involvement (60-85%) and 12 genes: PTPN11, SOS1, RAF1, KRAS, HRAS, BRAF, MEK1/MAP2K1, MEK2/MAP2K2, NRAS, SHOC2, CBL and SPRED1. Although the majority of these diseases are readily distinguishable in clinical terms, an integrated imaging study of the cardiac condition associated to RASopathies helps to better define risk assessment, surveillance, and management of these patients.

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Published
2014-07-09
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Section
Echocardiography and Rare Diseases
Keywords:
RASopathies, hypertrophic cardiomyopathy, echocardiography.
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How to Cite
Gravino, R., & Pacileo, G. (2014). Cardiac imaging in RASopathies/mitogen activated protein kinase syndromes. Cardiogenetics, 4(1). https://doi.org/10.4081/cardiogenetics.2014.2198