Cardiac Disorders in Patients With Leber Hereditary Optic Neuropathy

Update Item Information
Title Cardiac Disorders in Patients With Leber Hereditary Optic Neuropathy
Creator Christophe Orssaud, MD
Affiliation Functional Unit of Ophthalmology, Reference Center for Rares Diseases in Ophthalmology OPHTARA, Hôpital Européen Georges Pompidou, Assistance Publique-Hôpitaux de Paris, Paris, France
Abstract Cardiac abnormalities have been described in patients with Leber hereditary optic neuropathy (LHON). Some are life-threatening because of the risk of ventricular fibrillation and sudden death. The purpose of our study was to better characterize the cardiac abnormalities in a large patient cohort with LHON. A retrospective study of the electrocardiogram (EKG) results performed on all patients with LHON evaluated at The Reference Center for Rare Diseases in Ophthalmology, Paris, France, from January 2015 to June 2017. Our series included 73 patients with LHON (9 women/64 men) with a mean age of 30.29 ± 14.48 years. Although only 1 patient had cardiac complaints, cardiac abnormalities were detected in 17 patients (23.2%): 9 patients had an excitation syndrome, 6 had atrioventricular block, and 2 had repolarization abnormalities. All patients harbored mtDNA point mutations 11778 or 3460. Cardiac abnormalities occur frequently enough in patients with LHON that a baseline EKG is warranted. However, further studies are needed to determine the true cardiac risk associated with specific LHON mtDNA mutations.
Subject Adult; Comorbidity; DNA, Mitochondrial / genetics; Electrocardiography; Female; Follow-Up Studies; France / epidemiology; Heart Diseases / diagnosis; Heart Diseases / epidemiology; Heart Diseases / genetics; Humans; Male; Optic Atrophy, Hereditary, Leber / diagnosis; Optic Atrophy, Hereditary, Leber / epidemiology; Optic Atrophy, Hereditary, Leber / genetics; Point Mutation; Retrospective Studies; Risk Factors
OCR Text Show
Date 2018-12
Language eng
Format application/pdf
Type Text
Publication Type Journal Article
Source Journal of Neuro-Ophthalmology, December 2018, Volume 38, Issue 4
Collection Neuro-Ophthalmology Virtual Education Library: Journal of Neuro-Ophthalmology Archives: https://novel.utah.edu/jno/
Publisher Lippincott, Williams & Wilkins
Holding Institution Spencer S. Eccles Health Sciences Library, University of Utah
Rights Management © North American Neuro-Ophthalmology Society
ARK ark:/87278/s69p82kp
Setname ehsl_novel_jno
ID 1500761
Reference URL https://collections.lib.utah.edu/ark:/87278/s69p82kp
Back to Search Results