title: Periventricular nodular heterotopia and cardiovascular defects.
abstract: BACKGROUND
  Periventricular nodular heterotopia (PNH) is a rare congenital anomaly of the brain presenting as nodular heterotopia along the paraventricular region. Ten cases 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 cardiovascular anomalies in Asians.
  
  
  METHODS
  Patients with a diagnosis of brain heterotopia on magnetic resonance imaging at Chang Gung Memorial Hospital between 1994 and 2010 were screened for both typical PNH and cardiovascular anomalies. The family members of the index cases were also evaluated.
  
  
  RESULTS
  One family (5 patients) and a sporadic case were found to have both typical PNH and cardiovascular anomalies. Two of them had aortic root aneurysm, one had aortic regurgitation, and one had minor valvular disease. Two patients 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 were reviewed. EDS is unusual in Asians with PNH. Aortic aneurysm and other valvular heart diseases are common cardiovascular anomalies in PNH patients.
authors.affiliation: Section of Epilepsy, Department of Neurology, Chang Gung Memorial Hospital at Linkou, Chang Gung University College of Medicine, Taoyuan, Taiwan.
authors.forename: Chih-Hong
authors.initials: CH
authors.lastname: Lee
authors.forename: Yau-Yau
authors.initials: YY
authors.lastname: Wai
authors.forename: Tonyu
authors.initials: T
authors.lastname: Wu
mesh_terms: D000015:Abnormalities, Multiple; D000328:Adult; D000368:Aged; D001014:Aortic Aneurysm / Q000150:complications; D018376:Cardiovascular Abnormalities / Q000150:complications*; D005260:Female; D006801:Humans; D008875:Middle Aged; D054091:Periventricular Nodular Heterotopia / Q000150:complications*