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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. |
