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| LETTER TO THE EDITOR |
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| Year : 2016 | Volume
: 17
| Issue : 3 | Page : 127-128 |
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Specification of the myopathy type may influence the management of noncompaction
Josef Finsterer1, Sinda Zarrouk-Mahjoub2
1 Department of Neurological, Krankenanstalt Rudolfstiftung, Vienna, Austria
2 Department of Neurological, Genomics Platform, Pasteur Institute of Tunis, Tunis, Tunisia
| Date of Web Publication | 19-Oct-2016 |
Correspondence Address:
Dr. Josef Finsterer
Postfach 20, 1180 Vienna
Austria
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/1995-705X.192562
How to cite this article:
Finsterer J, Zarrouk-Mahjoub S. Specification of the myopathy type may influence the management of noncompaction. Heart Views 2016;17:127-8 |
With interest, we read the article by Saeedan et al. (Heart Views 2015;16:164-167) about a 24-year-old female with symptomatic left ventricular hypertrabeculation/noncompaction (LVHT) and myopathy since birth.[1] We have the following comments and concerns.
The authors suspected a mitochondrial disorder (MID) or congenital myopathy.[1] Since MIDs are the disorders most frequently associated with LVHT,[2] an MID is the most likely cause of muscle weakness. Why were no biochemical investigations of the muscle homogenate carried out to see if there was respiratory chain dysfunction? Were there other first-degree family members presenting with myopathy or LVHT? Which were the creatine-kinase values in the patient's relatives? Was there a maternal trait of inheritance, or autosomal, or X-chromosomal transmission? Why was no sequencing of the mtDNA carried out, why no whole exome sequencing to look for mutations in genes involved in mitochondrial pathways? Were proximal myotonic dystrophy, limb girdle muscular dystrophy, and myofibrillar myopathy excluded? Were myotonic or pseudomyotonic discharges recorded on needle electromyography?
Did the deceased brothers undergo autopsy? Was LVHT found on autopsy in these two males? Did they ever undergo echocardiography during lifetime? Were their echocardiographies reviewed for LVHT? Was ever a routine electrocardiogram (ECG) or a long-term ECG recorded in any of the two? Was their individual history positive for any muscle disorder or did they present with clinical manifestations of a muscle disease?
The index patient is described to have had swallowing difficulties at birth and delayed motor milestones, including walking and talking? When did swallowing dysfunction resolve during the following years?
We do not agree with the statement that in Jenni's study, 82% of the patients had neuromuscular disorders.[1] This figure was provided by a study from Stöllberger et al. in 2002.[3]
We do not agree with the statement that no therapy exists for LVHT.[1] Patients with asymptomatic LVHT do not require treatment, but patients with symptomatic LVHT or subclinical arrhythmias may profit from antiarrhythmic, heart failure, or antithrombotic therapy. In patients with a high risk for ventricular arrhythmias, implantation of an implantable cardioverter defibrillator may be indicated. In patients with atrial fibrillation, oral anticoagulation with phenprocoumon may be beneficial. In single cases with intractable heart failure, heart transplantation may be a life-saving measure. Since a number of symptomatic measures can be applied in LVHT patients, it is important to closely follow-up these patients and to repeatedly investigate them for subclinical systolic dysfunction, ventricular arrhythmias, or thrombus formation between the intertrabecular recesses.
Subendocardial or mid-myocardial fibrosis is a frequent finding in LVHT patients.[4] Did the authors look for late gadolinium enhancement on cardiac MRI, which is assumed to represent myocardial fibrosis? Patients with subendocardial fibrosis are regarded as particularly prone to ventricular arrhythmias.[5] With regard to the family history, the index patient requires long-term ECG recording.
Overall, this interesting case report could be improved by providing a profound family history, by carrying out more profound biochemical and genetic studies to clarify the nature of the muscle disease and by a more accurate description of treatment options in LVHT patients.
Financial support and sponsorship
Nil.
Conflicts of interest
There are no conflflicts of interest.
 References | |  |
| 1. | Saeedan MB, Fathala AL, Mohammed TL. Noncompaction cardiomyopathy: Case presentation with cardiac magnetic resonance imaging findings and literature review. Heart Views 2015;16:164-7.  [ PUBMED]  |
| 2. | Finsterer J. Cardiogenetics, neurogenetics, and pathogenetics of left ventricular hypertrabeculation/noncompaction. Pediatr Cardiol 2009;30:659-81. [ PUBMED] |
| 3. | Stöllberger C, Finsterer J, Blazek G. Left ventricular hypertrabeculation/noncompaction and association with additional cardiac abnormalities and neuromuscular disorders. Am J Cardiol 2002;90:899-902. |
| 4. | Ker J, Du Toit-Prinsloo L, Van Heerden WF, Saayman G. Subendocardial fibrosis in left ventricular hypertrabeculation-cause or consequence? Clin Med Insights Cardiol 2011;5:13-6. [ PUBMED] |
| 5. | Wan J, Zhao S, Cheng H, Lu M, Jiang S, Yin G, et al. Varied distributions of late gadolinium enhancement found among patients meeting cardiovascular magnetic resonance criteria for isolated left ventricular non-compaction. J Cardiovasc Magn Reson 2013;15:20. [ PUBMED] |
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