Pulmonary Hypertension in the RASopathies

The RASopathies are a class of developmental disorders caused by a genetic mutation in the Ras signaling pathway and asso ciated mitogen-activated protein kinases that control the cell cycle, differentiation and senescence. These diseases encompass a diverse set of clinical syndromes including neurofibromatosis type 1 and Noonan syndrome. Although the pathophysi ological manifestations of these conditions are diverse, they share some common phenotypic features. The prevalence of pul monary hypertension in the RASopathies is not well established as compared to cardiac and neurocognitive impairments. This paper reviews the cases of pulmonary hypertension in these member syndromes. Due to the aggressive and often fatal nature of pulmonary hypertension, a diagnosis of a RASopathy should also include screening for pulmonary hypertension.

• Publication year

  2019

• Venue

  jcvm

• Publication date

  2019-12-04

• Fields of study

  Medicine

• Identifiers
  DOI 10.17303/JCVM.2013.1.301
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar

• No claims are published for this paper.

• No concepts are published for this paper.

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