Pulmonary hypertension in patients carryingFLNAloss-of-function variants

Abstract excerpt

Background Pulmonary hypertension (PH) is an unusual complication of X-linked disease caused by loss-of-function (LOF) variants in the filamin A (FLNA) gene. Patients withFLNALOF may also present dysmorphic facial features, aortic dilation, thrombocytopenia and periventricular nodular heterotopia (PVNH). Methods We reported the clinical, functional, haemodynamic and radiological characteristics of patients...

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