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• W4308661036 abstract "We appreciate the interest by Finsterer and Mehri in our recent report on Leber’s hereditary optic neuropathy (LHON).1Finsterer J. Stollberger C. Gatterer E. Wolff-Parkinson-White syndrome and noncompaction in Leber's hereditary optic neuropathy due to the variant m.3460G > A.J Int Med Res. 2018; 46: 2054-2060Crossref PubMed Scopus (8) Google Scholar In mitochondrial disease, the heteroplasmy rate (HR) expresses the ratio of the number of abnormal mitochondria to the total number of mitochondria in a specific tissue. The ratio is often tissue-specific, which implies that the HR of myocardial tissue may differ significantly from the HRs of other tissues. Given that the severity of disease expression in mitochondrial disease is associated with the tissue-specific HR, establishing the HR is of little clinical significance. Furthermore, obtaining myocardial tissue may be harmful to the patient, due to the risk of myocardial perforation occurring during the sampling procedure. In our study, the genetic investigations included only part of the mitochondrial DNA harboring recognized pathogenic variants. However, as Finsterer and Mehri point out, information about copy number variants and haplotype may be of scientific interest to better understand the pathophysiology of LHON.1Finsterer J. Stollberger C. Gatterer E. Wolff-Parkinson-White syndrome and noncompaction in Leber's hereditary optic neuropathy due to the variant m.3460G > A.J Int Med Res. 2018; 46: 2054-2060Crossref PubMed Scopus (8) Google Scholar As described in our report, the index patient had multiple organ involvement, including demyelination of the posterior portion of the optical nerves, consistent with LHON. He had an otherwise normal neurologic investigation and no signs or symptoms of Harding’s disease.2Hey T.M. Nielsen S.K. Eriksen U. Hansen F. Mogensen J. Leber's hereditary optic neuropathy and hypertrophic cardiomyopathy.CJC Open. 2022; 4: 813-815Abstract Full Text Full Text PDF PubMed Scopus (2) Google Scholar,3Harding A.E. Sweeney M.G. Miller D.H. et al.Occurrence of a multiple sclerosis-like illness in women who have a Leber's hereditary optic neuropathy mitochondrial DNA mutation.Brain. 1992; 115: 979-989Crossref PubMed Scopus (342) Google Scholar Recently, Finsterer and Mehri suggested that left ventricular hypertrabeculation (LVHT) is a specific disease expression associated with LHON, based on the clinical findings in 2 patients carrying a m.3460G > A mutation.1Finsterer J. Stollberger C. Gatterer E. Wolff-Parkinson-White syndrome and noncompaction in Leber's hereditary optic neuropathy due to the variant m.3460G > A.J Int Med Res. 2018; 46: 2054-2060Crossref PubMed Scopus (8) Google Scholar However, LVHT is well recognized to be potentially part of the normal left ventricular anatomy, as well as part of the disease expression in both dilated and hypertrophic cardiomyopathy (HCM).4Oechslin E. Jenni R. Left ventricular noncompaction: from physiologic remodeling to noncompaction cardiomyopathy.J Am Coll Cardiol. 2018; 71: 723-726Crossref PubMed Scopus (56) Google Scholar Therefore, LVHT is less likely to represent a specific disease entity with a well-defined prognosis. Finsterer and Mehri suggest that loop recorders be implanted in LHON patients with LVHT, due to the sudden cardiac death of one patient in their report.1Finsterer J. Stollberger C. Gatterer E. Wolff-Parkinson-White syndrome and noncompaction in Leber's hereditary optic neuropathy due to the variant m.3460G > A.J Int Med Res. 2018; 46: 2054-2060Crossref PubMed Scopus (8) Google Scholar We appreciate these considerations, although our opinion is that management of patients should be individualized and based on their clinical disease expression, which was benign in the patients in our report. The patient had no family history of sudden cardiac death, did not experience syncopes, and had repeated Holter recordings without arrhythmias. Loop recorder implantation was therefore not indicated. Previous studies of LHON patients have also reported cardiac manifestations similar to those in HCM caused by pathogenic sarcomeric variants, which suggests that routine cardiac investigations should be offered to all LHON patients. In addition, a clear indication is that at least ND1 should be part of the genetic screening of HCM patients.1Finsterer J. Stollberger C. Gatterer E. Wolff-Parkinson-White syndrome and noncompaction in Leber's hereditary optic neuropathy due to the variant m.3460G > A.J Int Med Res. 2018; 46: 2054-2060Crossref PubMed Scopus (8) Google Scholar,2Hey T.M. Nielsen S.K. Eriksen U. Hansen F. Mogensen J. Leber's hereditary optic neuropathy and hypertrophic cardiomyopathy.CJC Open. 2022; 4: 813-815Abstract Full Text Full Text PDF PubMed Scopus (2) Google Scholar This letter was in accordance with the ethical guidelines. The authors have no funding sources to declare." @default.
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• W4308661036 date "2023-01-01" @default.
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• W4308661036 title "Reply to Finsterer and Mehri—Leber’s Hereditary Optic Neuropathy: Mind the Heart!" @default.
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• W4308661036 doi "https://doi.org/10.1016/j.cjco.2022.11.005" @default.
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