Cardiac disease in mitochondrial disorders
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Cardiac disease in mitochondrial disorders Josef Finsterer1 Accepted: 19 October 2020 © Springer Science+Business Media, LLC, part of Springer Nature 2020
Letter to the Editor. With interest we read the review article by Behjati et al. about cardiac involvement in mitochondrial disorders (MIDs) [1]. It was concluded that “the management of cardiac diseases related to MIDs is, as usual, cardiologist care” and that “earlier recognition and close follow-up are essential” [1]. We have the following comments and concerns. Left ventricular hypertrabeculation (LVHT), also known as noncompaction, is a frequent cardiomyopathy (CMP) subtype, particularly occurring in MIDs [2]. The authors mention in Table 2 three genes in which mutations have been found in association with LVHT [1]. These genes include cytb, ND1, and tRNA(Leu) [1]. However, the spectrum of mutated genes associated with MID and additionally LVHT is much broader [3]. In a recent review about the genetic implications of LVHT, more than 100 genes were listed being associated with the development of LVHT [3]. Among these, mutated genes associated with MID and LVHT additionally include MT-ATP6, NDUFB11, SDHA, SDHD, TAZ/ G4.5, COQ9, HADHB, and MIPEP [3]. Missing in the review is mentioning histiocytoid CMP as a cardiac manifestation of a MID [4]. Histiocytoid CMP is a rare, distinct type of CMP with approximately 150 cases reported worldwide [4]. Histiocytoid CMP predominantly affects females early in life [4]. Histiocytoid CMP is characterized by arrhythmias and associated sudden death [4]. Concomitant cardiac abnormalities include ventricular and atrial septal defects, endocardial fibroelastosis, and hypoplastic left heart syndrome [4]. Missing is also mentioning that atrial fibrillation is one of the most frequent arrhythmias in MIDs and that patients with a CHADS-VASc score > 1 should receive oral anticoagulation. It is also crucial to discuss the effect of the autonomous nervous system, frequently disturbed in MIDs, on cardiac functions. * Josef Finsterer [email protected] 1
The authors also did not mention that arterial hypertension is increasingly recognized as a phenotypic feature of a MID. Particularly in Chinese patients, arterial hypertension has been reported as a manifestation of the disease [5]. However, the mechanism by which arterial hypertension develops in a MID remains speculative. Missing is an in-depth discussion about the influence of heteroplasmy rates on the cardiac phenotype in MIDs. Since heteroplasmy rates strongly determine the phenotypic expression of a MID, it is quite likely that heteroplasmy rates are also involved in the development of cardiac pathology. Missing is a discussion about the application of cardiac MRI in the work-up of cardiac disease, particularly for the subtypes of CMP, in MIDs. We suggest to supplement the conclusions by the statement that as soon a MID is diagnosed, the heart should be prospectively investigated for subclinical or clinically manifesting cardiac involvement in the MID, and that in case of cardi
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