We appreciate the interest shown by Finsterer et al. in our article [1]. We agree with Finsterer et al. that not all cases of left ventricular non-compaction (LVNC) are due to genetic etiologies. The possible causes can include acquired or environmental factors as stated in our discussion. The aim of our article is to define a strategy to evaluate the etiology of LVNC in paediatric patients when a genetic cause is suspected. As highlighted by Finsterer et al., we have included neuromuscular diseases (in Table 2) and mitochondrial disorders (in Table 3) as diseases associated with LVNC in our article.
Any conclusion on the pathogenesis on the mechanism remains speculative at best currently [2, 3]. The genes listed in the Tables 3 and 4 have been reported to be associated with LVNC. We certainly do not mean to imply that association is equivalent to direct causal relationship, and the information in the tables is by no means exhaustive. They serve as a brief reference for the reader.
In summary, the aim of our article is to the approach to diagnose the underlying genetic causes in a pediatric patient with LVNC. We hope that it will be a useful resource for a busy clinician who is assessing a paediatric patient with LVNC.
References
Ting TW, Jamuar SS, Brett MS, Tan ES, Cham BW, Lim JY, Law HY, Tan EC, Choo JT, Lai AH (2015) Left ventricular non-compaction: is it genetic? Pediatr Cardiol. doi:10.1007/s00246-015-1222-5
Finsterer J, Stöllberger C, Schubert B (2008) Acquired left ventricular noncompaction as a cardiac manifestation of neuromuscular disorders. Scand Cardiovasc J 42:25–30
Finsterer J, Stöllberger C (2013) Mitochondrial DNA sequence and copy number variants cannot be the only culprit in the pathogenesis of noncompaction. Mol Genet Metab 109(3):317
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This is the response to the letter entitled, “Consider a Non-genetic Pathogenesis of Noncompaction”, doi:10.1007/s00246-015-1253-y.
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Ting, T.W., Jamuar, S.S. Response to Letter by Finsterer and Zarrouk. Pediatr Cardiol 36, 1550 (2015). https://doi.org/10.1007/s00246-015-1254-x
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DOI: https://doi.org/10.1007/s00246-015-1254-x