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

doi:10.1016/j.carpath.2007.09.004

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

Cardiovascular Medicine

Research output: Contribution to journal › Article › peer-review

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 language	English (US)
Pages (from-to)	44-48
Number of pages	5
Journal	Cardiovascular Pathology
Volume	18
Issue number	1
DOIs	https://doi.org/10.1016/j.carpath.2007.09.004
State	Published - Jan 2009

Keywords

Cardiac arrhythmia
Cardiac storage disease
Heart failure
Neuronal ceroid lipofuscinosis

ASJC Scopus subject areas

Pathology and Forensic Medicine
Cardiology and Cardiovascular Medicine

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10.1016/j.carpath.2007.09.004

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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.",

keywords = "Cardiac arrhythmia, Cardiac storage disease, Heart failure, Neuronal ceroid lipofuscinosis",

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AU - Orszulak, Thomas A.

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

Abstract

Keywords

ASJC Scopus subject areas

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