Periventricular Nodular Heterotopia and Cardiovascular Defects

Background: Periventricular nodular heterotopia (PNH) is a rare congenital anomaly of thebrain presenting as nodular heterotopia along the paraventricular region. Tencases of PNH complicated by aortic aneurysm have been reported in the literature, and 9 of them also had symptoms of Ehlers-Danlos syndrome(EDS). This study investigated the association of PNH and cardiovascularanomalies in Asians.Methods: Patients with a diagnosis of brain heterotopia on magnetic resonance imagingat Chang Gung Memorial Hospital between 1994 and 2010 were screenedfor both typical PNH and cardiovascular anomalies. The family members ofthe index cases were also evaluated.Results: One family (5 patients) and a sporadic case were found to have both typicalPNH and cardiovascular anomalies. Two of them had aortic root aneurysm,one had aortic regurgitation, and one had minor valvular disease. Twopatients had a history of seizures, but none of them had EDS.Conclusions:Clinical heterogeneity exists in the patients with PNH. Overlap in the symptoms of PNH, cardiovascular anomalies, aortic aneurysm, and EDS werereviewed. EDS is unusual in Asians with PNH. Aortic aneurysm and othervalvular heart diseases are common cardiovascular anomalies in PNHpatients.