title: End stage of arrhythmogenic cardiomyopathy with severe involvement of the interventricular septum.
abstract: Detailed histopathologic, immunohistochemical, and ultrastructural analysis of the heart of a 56-year-old woman with end-stage arrhythmogenic cardiomyopathy with a pathogenic plakophilin-2 mutation is described. The explanted heart revealed severe fibrofatty replacement of nearly the entire right ventricular free wall. The left ventricle was severely affected, and, most remarkable, there was massive involvement of the interventricular septum. Immunohistochemical and electron microscopic findings of intercalated disks revealed areas with a heterogeneous distribution of connexin43 and focal electron microscopic abnormalities among these regions. This case illustrates that arrhythmogenic cardiomyopathy is not limited to the right ventricle but involves the entire myocardium, including the interventricular septum.
authors.affiliation: Department of Medical Physiology, University Medical Center Utrecht, Utrecht, The Netherlands.
authors.forename: Maartje
authors.initials: M
authors.lastname: Noorman
authors.forename: Judith A
authors.initials: JA
authors.lastname: Groeneweg
authors.forename: Angeliki
authors.initials: A
authors.lastname: Asimaki
authors.forename: Stefania
authors.initials: S
authors.lastname: Rizzo
authors.forename: Maartje
authors.initials: M
authors.lastname: Papegaaij
authors.forename: Leonie
authors.initials: L
authors.lastname: van Stuijvenberg
authors.forename: Nicolaas
authors.initials: N
authors.lastname: de Jonge
authors.forename: Dennis
authors.initials: D
authors.lastname: Dooijes
authors.forename: Cristina
authors.initials: C
authors.lastname: Basso
authors.forename: Jeffrey E
authors.initials: JE
authors.lastname: Saffitz
authors.forename: Toon A B
authors.initials: TA
authors.lastname: van Veen
authors.forename: Aryan
authors.initials: A
authors.lastname: Vink
authors.forename: Richard N W
authors.initials: RN
authors.lastname: Hauer
mesh_terms: D019571:Arrhythmogenic Right Ventricular Dysplasia / Q000175:diagnosis* / Q000473:pathology / Q000601:surgery*; D001707:Biopsy, Needle; D018450:Disease Progression; D004562:Electrocardiography / Q000379:methods; D005260:Female; D005500:Follow-Up Studies; D006333:Heart Failure / Q000175:diagnosis / Q000601:surgery; D016027:Heart Transplantation / Q000379:methods*; D006801:Humans; D007150:Immunohistochemistry; D008875:Middle Aged; D009206:Myocardium / Q000473:pathology / Q000648:ultrastructure; D020127:Recovery of Function; D012720:Severity of Illness Index; D016896:Treatment Outcome; D054088:Ventricular Septum / Q000473:pathology*