title: [End-stage cardiac manifestations and autopsy findings in patients with cardiac fabry disease].
abstract: BACKGROUND
  Fabry disease is an X-linked recessive disorder resulting from a deficiency of alpha-galactosidase A with multi-organ dysfunction. Patients with manifestations limited to the heart have been reported recently as a disease variant. We have previously reported a 3% prevalence of this cardiac variant in men with left ventricular hypertrophy, which we designated cardiac Fabry disease. The purposes of the current study were to evaluate the end-stage cardiac manifestations and autopsy findings in patients with cardiac Fabry disease.
  
  
  RESULTS
  We evaluated five autopsied male patients with cardiac Fabry disease. One died of ventricular fibrillation and four of heart failure. Electrocardiograms obtained at hospitalization revealed the presence of conduction abnormalities and nonsustained ventricular tachycardia. Echocardiograms and autopsy findings showed the presence of left ventricular hypertrophy in all patients. Localized thinning of the basal posterior wall of the left ventricle was detected in four patients who died of heart failure. All patients had severe left ventricular dysfunction. Histologically, myocardial cells showed glycosphingolipid accumulation in all of the patients but no accumulation was observed in other organs or in systemic vascular endothelial cells.
  
  
  CONCLUSIONS
  Severe left ventricular dysfunction, conduction disturbances and ventricular arrhythmias occur in end-stage cardiac Fabry patients. Furthermore, left ventricular hypertrophy commonly associated with thinning of the base of the left ventricular posterior wall is present. The accumulation of glycosphingolipids can be observed in myocardial cells but not in other organs.
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Teraguchi
authors.forename: Toshihiro
authors.initials: T
authors.lastname: Takenaka
authors.forename: Aichi
authors.initials: A
authors.lastname: Yoshida
authors.forename: Syuhei
authors.initials: S
authors.lastname: Taguchi
authors.forename: Kenjiro
authors.initials: K
authors.lastname: Ninomiya
authors.forename: Hiroki
authors.initials: H
authors.lastname: Yoshida
authors.forename: Michiko
authors.initials: M
authors.lastname: Horinouchi
authors.forename: Suguru
authors.initials: S
authors.lastname: Yonezawa
authors.forename: Shoichiro
authors.initials: S
authors.lastname: Nakao
authors.forename: Shinichi
authors.initials: S
authors.lastname: Minagoe
authors.forename: Shuwa
authors.initials: S
authors.lastname: Tei
mesh_terms: D000368:Aged; D000795:Fabry Disease / Q000150:complications / Q000473:pathology*; D006801:Humans; D017379:Hypertrophy, Left Ventricular / Q000150:complications / Q000473:pathology*; D008875:Middle Aged; D009206:Myocardium / Q000473:pathology*; D013610:Tachycardia / Q000150:complications