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Noncompaction of the ventricular myocardium and hydrops fetalis in cobalamin C disease
Pranoot Tanpaiboon
0
Charles P. Venditti
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P. Tanpaiboon Division of Genetics and Metabolism, Children's National Medical Center
,
Washington, DC 20010, USA
1
) Organic Acid Research Section, Genetics and Molecular Biology Branch, National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH)
,
Bethesda, MD 20892, USA
Communicated by: Verena Peters
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We reported the first patient with early onset cobalamin C
disease (cblC) who presented with non-immune hydrops
fetalis, who also had left ventricular noncompaction (LVNC)
and heart failure in the neonatal period. After metabolic
management and ionotrophic support, her left ventricular function
improved. At 30 months, the last age of evaluation at our
center, the apex of the left ventricle was globular but cardiac
function was within normal limit on digoxin therapy. A
cardiac MRI to more precisely characterize the ventricular
myocardium has not yet been performed. Although beyond the
scope of a case report, the questions raised regarding
theoretical explanations for the natural history and disease course of
LVNC in cblC and also relationship of LVNC to other
neuromuscular disorders such as Duchennes muscular
dystrophy are intriguing and will remain as challenges for future
research.
Drs. Finsterer and Stllberger affirm that LVHT in
cobalamin-C deficiency was found only in a limited number
of patients with a specific mutation. We disagree with this
statement. The only systematic echocardiographic survey of
cardiac disease in a cohort of cblC patients was reported by
Profitlich et al (2009) in a small group of ten patients: three
patients (33 %) had LVNC. Of specific relevance to Drs.
Finsterer and Stllbergers comment is that the three patients
with LVNC reported by Profitlich et al harbored a total of four
distinct MMACHC mutations, suggesting that there is not a
specific mutation seen in the reported cblC patients with
LVNC.
LVNC is recognized as a genetically heterogeneous
disease, associated with variable clinical symptoms (Ichida
2009). We offered a hypothesis to explain a possible
correlation between LVNC and cblC disease, not a statement of
causal relationship as claimed by Drs. Finsterer and
Stllberger, but do agree that definitive studies examining
LVNC in the setting of MMACHC deficiency need to be
rigorously assessed. The detailed cardiovascular and
echocardiographic characterization of larger numbers of cblC patients,
with an extension into relevant animal models, would be one
approach to assess the relationship between MMACHC
deficiency and LVNC exists.
Conflict of interest None.
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