CARDIOVASCULAR JOURNAL OF AFRICA • Volume 25, No 1, January/February 2014
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Non-compaction is not a simple genetic disorder
Dear Sir
We read with interest the article by Osmonov
et al
. about
an asymptomatic 16-year-old boy with left ventricular
hypertrabeculation/non-compaction(LVHT)whowasincidentally
investigated cardiologically for repetitive monomorphic couplets/
triplets of premature ventricular ectopic beats with left bundle
branch block morphology and inferior QRS axis.
1
We have the
following comments and concerns.
We do not agree with the definition of LVHT as a genetic
disorder. Although frequently associated with genetic disease,
a clear-cut genotype/phenotype correlation has never been
established for any of the mutated genes so far described
in association with LVHT. An argument against a causal
relationship is that in the majority of hereditary neuromuscular
disorders (NMDs) associated with LVHT, LVHT is absent.
2
Since
the exact cause and pathomechanism of LVHT remains elusive, it
is not justified to classify LVHT as a genetic disease.
The authors reported that systolic function improved after
ablation. Did the patient also receive angiotensin converting
enzyme inhibitors, angiotensin 2 blockers, beta-blockers or
diuretics, or do the authors attribute improvement of systolic
dysfunction within two months after the procedure exclusively
to the ablation?
The authors mentioned that the boy was scheduled for plastic
surgery. Which operation was the patient intended to undergo?
Did the patient present with dysmorphism, any skin problems,
or bone abnormalities, which are occasionally found in patients
with LVHT?
3
LVHT has not only been misdiagnosed as distal
heterotrophic cardiomyopathy, dilated cardiomyopathy, or left
ventricular apical thrombus, but has also been mixed up with
aberrant bands, papillary muscles, apical type of hypertrophic
cardiomyopathy, myocardial abscess and toxoplasmosis.
4
continued on page 20…
Letter to the Editor
