European Heart Journal Advance Access originally published online on February 12, 2008
European Heart Journal 2008 29(7):951-952; doi:10.1093/eurheartj/ehn057
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No re-appraisal of non-compaction diagnostic criteria without considering neurological co-morbidity and genetic heterogeneity: reply
Inherited Cardiovascular Disease
The Heart Hospital
University College London
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Inherited Cardiovascular Disease
The Heart Hospital
University College London
16-18 Westmoreland Street
London W1G 8PH
UK
Inherited Cardiovascular Disease
The Heart Hospital
University College London
16-18 Westmoreland Street
London W1G 8PH
UK
University Hospital Lewisham
London
UK
We thank Drs Stöllberger and Finsterer for their commentary on our paper. They raise a number of points.
First, they correctly observe that the prevalence of left ventricular non-compaction (LVNC) is much higher than that reported in previous series. They state that this cannot be explained by the sensitivity of current criteria, but do not present a counterargument. Similarly, their statement that ‘the majority of normal controls fulfilling the left ventricular hypertrabeculation (their term) criteria were black is not justified’ is somewhat non-sensensical, given that this is false tendons, and abnormally.1
Their second point relating to the lack of neuromuscular disease in our patients is one that they obsessionally raise in written responses and review articles. We agree that there are many reports of an association between neuromuscular disease and a non-compaction phenotype. It is equally true that there are many reports of LVNC occurring in the absence of neuromuscular disease (most recently in association with cardiac sarcomeric protein gene mutations).2,3 As our study population consisted of a consecutive population of patients seen in a district general hospital adult heart failure clinic, it is not at all surprising that none of the patients had rare neuromuscular disorders. Their point that the high incidence of echoes fulfilling LVNC criteria in black patients and controls might be explained by a higher incidence of neuromuscular disease is barely credible.
Another recurring theme by Stöllberger and Finsterer is that LVNC may appear and disappear during life. They quote their own case reports to justify this observation. In response, we believe that it is almost inconceivable that a congenital heart defect characterized by persistence of the embryonic non-compact layer can appear and disappear in such a magical fashion. On the other hand, it is possible that normal left ventricular trabeculae may become more prominent in certain disease states such as left ventricular hypertrophy and that, in such circumstances, echo criteria for LVNC may be fulfilled. In this situation, prominent trabeculation is an epiphenomenon rather than a marker of a unique pathology—exactly the point of our paper.
Finally, the authors suggest that in order to avoid overdiagnosis of LVNC, trabeculations should be distinguished from aberrant bands, false tendons, and abnormally inserting papillary muscles. However, the fact that differentiation of these structures is almost entirely based on subjective criteria is a fundamental limitation shared by all current echocardiographic criteria for LVNC.
In summary, we can agree that a ‘uniform definition’ of LVNC is required. This should, however, be based on rigorous quantitative analysis of normal individuals and not subjective scoring systems.
References
- Kohli SK, Pantazis AA, Shah JS, Adeyemi B, Jackson G, McKenna WJ, Sharma S, Elliott PM. Diagnosis of left-ventricular non-compaction in patients with left-ventricular systolic dysfunction: time for a reappraisal of diagnostic criteria? Eur Heart J (2008) 29:89–95.
[Abstract/Free Full Text] - Kaneda T, Naruse C, Kawashima A, Fujino N, Oshima T, Namura M, Nunoda S, Mori S, Konno T, Ino H, Yamagishi M, Asano M. A novel beta-myosin heavy chain gene mutation, p.Met531Arg, identified in isolated left ventricular noncompaction in humans, resulted in left ventricular hypertrophy that progressed to dilation in a mouse model. Clin Sci(Lond) (2007) Oct 23; [Epub ahead of print].
- Monserrat L, Hermida-Prieto M, Fernandez X, Rodríguez I, Dumont C, Cazón L, Cuesta MG, Gonzalez-Juanatey C, Peteiro J, Alvarez N, Penas-Lado M, Castro-Beiras A. Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects. Eur Heart J (2007) 28:1953–1961.
[Abstract/Free Full Text]
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