Neuronal ceroid lipofuscinosis in a 31-year-old woman presenting as biventricular heart failure with restrictive features

Michael E. Fealey, William D. Edwards, Martha Grogan, Thomas A. Orszulak

Research output: Contribution to journalArticle

6 Scopus citations

Abstract

A 31-year-old woman presented with dyspnea and left-sided chest discomfort and was found to have biventricular heart failure with impaired ventricular filling. Clinically, she was thought to have restrictive cardiomyopathy or constrictive pericarditis. Transmission electron microscopy of myocardial tissue unexpectedly revealed crosshatched, curvilinear, and fingerprint depositions, which were characteristic for neuronal ceroid lipofuscinosis. Cardiac involvement by this inherited disorder is discussed in light of the findings in this patient and in 15 other reported cases.

Original languageEnglish (US)
Pages (from-to)44-48
Number of pages5
JournalCardiovascular Pathology
Volume18
Issue number1
DOIs
StatePublished - Jan 1 2009

Keywords

  • Cardiac arrhythmia
  • Cardiac storage disease
  • Heart failure
  • Neuronal ceroid lipofuscinosis

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Cardiology and Cardiovascular Medicine

Fingerprint Dive into the research topics of 'Neuronal ceroid lipofuscinosis in a 31-year-old woman presenting as biventricular heart failure with restrictive features'. Together they form a unique fingerprint.

  • Cite this