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Primary Myopathies with Cardiac Disease and types of Cardiac Disease are more Variegated than Anticipated

*Correspondence to: Josef Finsterer, MD, PhD, Krankenanstalt Rudolfstiftung, Messerli Institute, Veterinary University of Vienna,
Vienna, Austria, Europe, E-mail:

Article Information

Article Type: Editorial

Received : 04/12/2018
Accepted : 10/12/2018|
Published : 26/26/2018


Key words: primary myopathies, cardiac involvement, cardiomyopathy, ventricular arrhythmias, heart transplantation, sudden cardiac death. 


Letter to the Editor

With interest we read the review by Arbustini et at. about cardiac disease in patients with primary myopthies (PMs) [1]. We have the following comments and concerns.

A short coming of the review is that only a small segment of PMs with cardiac involvement but not the plethora of PMs is discussed. Missing in this respect are beta-oxidation defects, primary coenzyme-deficiency, pyruvate dehydrogenase deficiency, congenital myopathies, congenital muscular dystrophies, malignant hyperthermia susceptibility, McLeod syndrome, and myoadenylate deaminase deficiency. Concerning classification, Friedreich’s ataxia should not be assessed as PM. It is usually classified as spino-cerebellar ataxia and does not manifest with myopathy. 

Furthermore, it is not advisable to restrict mitochondrial disorders (MIDs) to defects of the oxidative phosphorylation [1]. Though most frequently affected, a number of other mitochondrial pathways, receptors, pores, channels, transport proteins, or the mtDNA replication may be defective in MIDs. Examples for non-OXPHOS pathways are the beta-oxidation and the pyruvate dehydrogenase complex. 

Missing cardiac manifestations in PMs include histiocytoid cardiomyopathy, hypertrophy of atrial walls (Himalayan P-waves), and aortic root ectasia in MIDs, ectasia of coronary arteries in transthyretin-related familial amyloidosis, and sudden cardiac death (SCD) [2, 3, 4]. Discussion of SCD is crucial as it may have prognostic relevance. PMs in which SCD has been previously reported include myotonic dystrophy 1, MIDs, laminopathy, desminopathy, and Danon disease [5]. 

Nothing is mentioned about Takotsubo syndrome (TTS) and PMs. Though it is questionable if TTS develops more frequently in patients with an already damaged heart, it is conceivable that hearts of certain PM patients are more vulnerable to catecholamine stress than a primarily unaffected heart. 

There is no mentioning of late gadolinium enhancement (LGE), a phenomenon found on cardiac MRI, particularly in muscular dystrophies. LGE may indicate myocardial fibrosis or inflammatory disease. In this respect cardiac MRI and its importance for the diagnostic work-up of cardiac disease in PMs should be more extensively discussed. 

Therapeutic options for cardiac involvement in PMs are not sufficiently discussed. Heart transplantation, for example, is becoming an increasingly applied measure, which needs to be mentioned for PM patients with intractable heart failure. 

Overall, this interesting review not only lacks a comprehensive overview about PMs which manifest with cardiac disease but also lacks discussing various cardiac manifestations of PMs. The review could be more meaningful if it would stress that follow-up cardiac investigations are essential for managing cardiac disease in PMs and that various highly effective therapeutic measures are currently available.



1 Arbustini E, Di Toro A, Giuliani L, Favalli V, Narula N, Grasso M. (2018) Cardiac Phenotypes in Hereditary Muscle Disorders:
   JACC State-of-the-Art Review. J Am Coll Cardiol  Nov 13;72(20):2485-2506.
2 Finsterer J. (2008) Histiocytoid cardiomyopathy: a mitochondrial disorder. Clin Cardiol;31:225-7.
3 Brunetti-Pierri N, Pignatelli R, Fouladi N, Towbin JA, Belmont JW, et al. (2011) Dilation of the aortic root in mitochondrial
   disease patients. Mol Genet Metab;103:167-70.
4 Stöllberger C, Avanzini M, Siostrzonek P, Kühn P, Winkler WB, Finsterer J. (2015) Familial Himalayan p wave and left ventricular
   hypertrabeculation/noncompaction. Ann Noninvasive Electrocardiol;20:181-6.
5 Finsterer J, Stöllberger C, Maeztu C. (2016) Sudden cardiac death in neuromuscular disorders. Int J Cardiol;203:508- 15.


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