einstein (São Paulo). 13/Nov/2019;17(4):eCE5251.
Congenital nystagmus, disability, visual impairment, and noncompaction suggest hereditary disease
DOI: 10.31744/einstein_journal/2019CE5251
Concerning the article by Maia et al., we have the following comments. Since noncompaction also known as left ventricular hypertrabeculation (LVHT) is frequently associated with genetic disease, first-degree family members should be screened for LVHT, visual impairment, and nystagmus. Disability and visual impairment should be specified and results of cerebral magnetic resonance imaging presented.
Left ventricular hypertrabeculation is not congenital in each case. Acquired LVHT has been reported, particularly in patients with neuromuscular disorders (NMDs), professional athletes, and pregnant women. Previous echocardiographies should be revised. If LVHT was acquired in the patient of the study, a NMD should be considered since the patient was not pregnant nor a professional athlete.
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