Dilative arteriopathy in metabolic myopathies, particularly Pompe's disease.

There is increasing evidence that some metabolic myopathies are associated with dilative arteriopathy. This review aimed at summarizing recent findings concerning the pathogenesis, presentation, diagnosis and treatment of dilative arteriopathies in patients with metabolic myopathies. Dilative arteriopathy manifests as ectasia or aneurysms. Dilative arteriopathy most frequently occurs in patients with Pompe's disease. More rarely, dilative arteriopathy occurs in other glycogenoses or mitochondrial disorders. Complications of dilative arteriopathy may be intracerebral or subarachnoid bleeding, dissection of the arterial wall or ischemic stroke. Because of the often fatal complications, patients at risk for developing dilative arteriopathy should be screened for it as soon as the diagnosis of a metabolic myopathy has been established. Dilative arteriopathy is a phenotypic feature, particularly of Pompe's disease. Early recognition of ectasias and aneurysms and appropriate interventions by enzyme replacement therapy, stenting, coiling or surgery may prevent mild or severe cerebrovascular complications or even death in some of these patients.