© 2007 European Society of Cardiology
Myopathy associated with spherocytosis and left ventricular hypertrabeculation/noncompaction
Krankenanstalt Rudolfstiftung Austria
2nd Medical Department, Krankenanstalt Rudolfstiftung Austria
Corresponding author. Postfach 20, 1180 Vienna, Austria Tel.: +43 1 71165 92085; fax: +43 1 4781711. E-mail: address:duarte{at}aonmail.at
Key Words: Neuromuscular • myopathy • cardiomyopathy
Received June 24, 2006; With interest we read the article by Alter and Maisch on a male with a non-specific neuromuscular disorder associated with spherocytosis and left ventricular hypertrabeculation/noncompaction (LVHT) [1]. The article raises some issues and concerns:
In the described patient intermittent atrial fibrillation was found. Since some observations indicate an increased risk of stroke/embolism from LVHT [2], it is even more probable that the described patient may sooner or later develop thrombo-embolic events. What were the results of the 24 h AECG and did the patient receive oral anticoagulation? Furthermore, it is not mentioned which medication the patient received for heart failure or extra-cardiac disease.
The patient is described to suffer from a neuromuscular disorder. However, no details on the neurological abnormalities are presented and no details of instrumental investigations are given. In particular no results of the muscle biopsy or biochemical investigations are shown. Since LVHT is associated with neuromuscular disorders in up to 80% of cases [3], the presented association is not surprising. Neuromuscular disorders so far described in association with LVHT are: dystrophinopathies, dystrobrevinopathies, myotonic dystrophy type 1, zaspopathy, myoadenylate-deaminase deficiency, Charcot-Marie-Tooth disease, mitochondrial disorders, Barth syndrome, Friedreich ataxia, or Pompe's disease [4]. Did the authors exclude all these disorders in their patient? Was the family history positive for neuromuscular disorders?
Although frequently reported, LVHT cannot only be attributed to an arrest in the embryonic compaction of the myocardium. Noncompaction of the myocardium is only one of several scenarios to explain the pathogenesis of LVHT. The noncompaction theory does not apply to cases in which LVHT developed during adulthood [5]. Were previous echocardiograms of the described patient re-evaluated for LVHT?
It is also well known that LVHT is familial. Were any first-degree relatives of the index patient cardiologically investigated? Was LVHT also found in any of these relatives?
Spherocytosis has been previously described in association with X-linked myotubular myopathy [6]. Was this type of myopathy considered in the presented patient? In case of indications for a hereditary disease, what was the transmission pattern?
There is no discussion of the coexistence of congenital diseases with muscular and eryt8hrocyte pathology, such as choreo-acanthocytosis, McLeod syndrome or hereditary spherocytosis with ankyrin alterations and the homology between spectrin and dystrophin [7].
Overall, there are data missing on the neurological aspects of this case. The report would contribute much if the nature of the neuromuscular disorder could be specified. The report stresses the neuromuscular impact of LVHT.
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- Alter P., Maisch B. Non-compaction cardiomyopathy in an adult with hereditary spherocytosis. Eur J Heart Fail (2007) 9:98–99.
[Abstract/Free Full Text] - Hascelik S., Yalnizoglu D., Kafali G., et al. Stroke owing to noncompaction of myocardium. J Child Neurol (2003) 18:437–439.
[Abstract/Free Full Text] - Stollberger 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.[CrossRef][Web of Science][Medline]
- Finsterer J., Stöllberger C., Blazek G. Neuromuscular implications in left ventricular hypertrabeculation/noncompaction. Int J Cardiol (2006) 110:288–300.[CrossRef][Web of Science][Medline]
- Finsterer J., Stollberger C., Gaismayer K., Janssen B. Acquired noncompaction in Duchenne muscular dystrophy. Int J Cardiol (2006) 106:420–421.[CrossRef][Web of Science][Medline]
- Herman G.E., Finegold M., Zhao W., de Gouyon B., Metzenberg A. Medical complications in long-term survivors with X-linked myotubular myopathy. J Pediatr (1999) 134:206–214.[CrossRef][Web of Science][Medline]
- Boivin P. Homologies between membrane proteins result in expected or unexpected relations between neuromuscular and erythrocyte diseases. Rev Med Interne (1992) 13:156–161.[Web of Science][Medline]
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