Disappearance of left ventricular hypertrabeculation/noncompaction in vacuolar non-neuromuscular cardiomyopathy

PLEC1 mutation associated with left ventricular hypertrabeculation/noncompaction

“…In rare cases LVHT disappears over time [6]. For how long was the patient followed-up and was LVHT still present at each of the follow-up echocardiographies?…”

Noncompaction may not only be non-isolated but also myopathic. Commentary to the article: “Left ventricular non-compaction associated with hypertrophic cardiomyopathy in the same patient”

“…Although LVHT is frequently associated with mutations in various genes or chromosomal defects, a causal relation has never been proven. Because LVHT may be non-congenital and may even disappear [3], it is conceivable that LVHT is a secondary phenomenon in primary cardiac disease, such as cardiomyopathy or heart failure. In transgenic mice it has been shown that LVHT is even inducible [4].…”

Considerations about the genetics of left ventricular hypertrabeculation/non-compaction

“…4 In rare cases, non-compaction may disappear over time. 8 Non-compaction is frequently associated with a variety of different neuromuscular disorders (Table 1), 9 but no causal relationship between noncompaction and any neuromuscular disorder has been established so far. A strong argument against a causal relationship is that non-compaction occurs only in a minority of patients with neuromuscular disorders, even when they are systematically screened for noncompaction.…”

“…Several other speculations such as reduced adhesion of cardiomyocytes, frustrate attempt to overcome a metabolic defect, weak myocardium, micro-infarction, adaptation to increased stroke volumes, or enlargement of the endocardium to improve oxygenation have been raised to explain acquired non-compaction 4 . In rare cases, non-compaction may disappear over time 8 …”