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Cardiac Disorders in Patients With Leber Hereditary Optic Neuropathy
1Functional Unit of Ophthalmology, Reference Center for Rares Diseases in Ophthalmology OPHTARA, Hôpital Européen Georges Pompidou, Assistance Publique-Hôpitaux de Paris, Paris, France.
Insights
Cardiac abnormalities are common in Leber hereditary optic neuropathy (LHON) patients, with over 23% showing issues like excitation syndrome or heart block. A baseline electrocardiogram (EKG) is recommended for all LHON individuals.
Area of Science:
- Ophthalmology
- Cardiology
- Genetics
Background:
- Leber hereditary optic neuropathy (LHON) is linked to potentially life-threatening cardiac abnormalities.
- These cardiac issues include risks of ventricular fibrillation and sudden cardiac death.
- Characterizing cardiac abnormalities in a large LHON patient cohort is crucial.
Purpose of the Study:
- To investigate and define the spectrum of cardiac abnormalities in a significant group of patients diagnosed with LHON.
- To establish the prevalence of cardiac involvement in individuals with Leber hereditary optic neuropathy.
Main Methods:
- Retrospective analysis of electrocardiogram (EKG) data.
- Study included patients evaluated at a French Rare Diseases Center between January 2015 and June 2017.
- Data collected from 73 patients with confirmed LHON diagnosis.
Main Results:
- 17 out of 73 LHON patients (23.2%) exhibited cardiac abnormalities.
- Common findings included excitation syndrome (9 patients), atrioventricular block (6 patients), and repolarization abnormalities (2 patients).
- All affected patients carried specific mtDNA mutations (11778 or 3460).
Conclusions:
- Cardiac abnormalities are frequent in LHON patients, necessitating baseline EKG screening.
- Further research is required to understand the precise cardiac risks associated with specific LHON mtDNA mutations.
Background:
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.
Methods:
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.
Results:
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.
Conclusions:
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.
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