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Vol. 120, No. 1, 2011
Issue release date: December 2011
Section title: Novel Insights from Clinical Experience
Cardiology 2011;120:52–58
(DOI:10.1159/000333127)

Primary Carnitine Deficiency and Sudden Death: In vivo Evidence of Myocardial Lipid Peroxidation and Sulfonylation of Sarcoendoplasmic Reticulum Calcium ATPase 2

Mazzini M. · Tadros T. · Siwik D. · Joseph L. · Bristow M. · Qin F. · Cohen R. · Monahan K. · Klein M. · Colucci W.
Cardiac Electrophysiology Section and Cardiovascular Medicine Section, Boston University Medical Center, Boston, Mass., USA

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Article / Publication Details

First-Page Preview
Abstract of Novel Insights from Clinical Experience

Received: 9/9/2011 7:46:37 AM
Published online: 11/24/2011
Issue release date: December 2011

Number of Print Pages: 7
Number of Figures: 3
Number of Tables: 1

ISSN: 0008-6312 (Print)
eISSN: 1421-9751 (Online)

For additional information: http://www.karger.com/CRD

Abstract

Objectives: Primary carnitine deficiency is an autosomal recessive disorder caused by mutations in the SLC22A5 gene which results in impaired carnitine transport, cytosolic fatty acid accumulation and impaired beta oxidation. The disease is associated with cardiomyopathy and arrhythmias, but the mechanism is unknown. We hypothesized that carnitine deficiency results in increased myocardial oxidative stress. Methods: We evaluated a 22-year-old woman with primary carnitine deficiency and ventricular fibrillation, as well as her first-degree relatives. Results: Sequencing of SLC22A5 identified two deleterious mutations (A142S and R488H) and a novel mutation predicted to be a splice variant. Histology demonstrated increased myocardial lipid deposition and swollen mitochondria. Immunohistochemistry demonstrated accumulation of the reactive aldehyde 4-hydroxy-2-nonenal, indicative of increased lipid peroxidation, and sulfonylation of sarcoendoplasmic reticulum calcium ATPase 2 at cysteine 674. Conclusions: These findings suggest that increased oxidant stress may contribute to myocardial dysfunction and arrhythmogenesis in this disorder.

© 2011 S. Karger AG, Basel


Article / Publication Details

First-Page Preview
Abstract of Novel Insights from Clinical Experience

Received: 9/9/2011 7:46:37 AM
Published online: 11/24/2011
Issue release date: December 2011

Number of Print Pages: 7
Number of Figures: 3
Number of Tables: 1

ISSN: 0008-6312 (Print)
eISSN: 1421-9751 (Online)

For additional information: http://www.karger.com/CRD


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