Juvenile pulmonary hypertension associated with fibromuscular dysplasia

A 20-year-old female diagnosed as idiopathic pulmonary arterial hypertension at 7 years of age was referred with worsening dyspnea and chest pain. Several imaging studies and right cardiac catheterization showed multiple stenoses in the peripheral pulmonary arteries with severe pulmonary hypertension and multiple systemic arterial stenoses lacking in systemic hypertension. No evidence of inflammatory or autoimmune disease was detected. Fibromuscular dysplasia was clinically diagnosed because of the narrowed systemic and pulmonary arterial stenoses which included dilatation and aneurysms that appeared similar to a string of beads. Treatment with sildenafil yielded a temporary improvement in her disease state.