Comments on: Isolated Nonocompaction Suggests Subclinical Myopathy - Revista Brasileira de Ginecologia e Obstetrícia
Revista Brasileira de Ginecologia e Obstetrícia. 2019;41(2):135-136
It is with interest that I read the article by Nappi et al about a fetus with left ventricular hypertrabeculation (LVHT), also known as left ventricular noncompaction (LVNC), at 26 weeks and 4 days of gestation. The fetus was delivered by cesarean section, preterm, at gestational week 31 and died 3 days after delivery for unknown reasons. The autopsy did not reveal any cardiac abnormality in addition to LVHT. Thus, I have a few comments and concerns.
Since LVHT is frequently associated with monogenic disorders or chromosomal defects, it would be interesting to know if the fetus underwent genetic testing and if any previously described mutation or chromosomal abnormality associated with LVHTwas detected. In case a genetic defectwas detected, I would like to knowif the parentswere tested for this particular defect and if it could be found in either of the parents as well. Since LVHT is particularly associated with neuromuscular disorders in upto 80% of the cases, itwould also be interesting to know if muscle tissue of the fetus was collected to perform immunohistological, ultrastructural, or biochemical investigations. Neuromuscular disorders may presentwith only mild manifestations or may remain subclinical; thus, it would be interesting to know if creatine-kinase or serum lactate was elevated in the index patient or his parents.
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It is with interest that I read the article by Nappi et al about a fetus with left ventricular hypertrabeculation (LVHT), also known as left ventricular noncompaction (LVNC), at 26 weeks and 4 days of gestation. The fetus was delivered by cesarean section, preterm, at gestational week 31 and died 3 days after delivery for unknown reasons. The autopsy did not reveal any cardiac abnormality in addition to LVHT. Thus, I have a few comments and concerns.
Since LVHT is frequently associated with monogenic disorders or chromosomal defects, it would be interesting to know if the fetus underwent genetic testing and if any previously described mutation or chromosomal abnormality associated with LVHTwas detected. In case a genetic defectwas detected, I would like to knowif the parentswere tested for this particular defect and if it could be found in either of the parents as well. Since LVHT is particularly associated with neuromuscular disorders in upto 80% of the cases, itwould also be interesting to know if muscle tissue of the fetus was collected to perform immunohistological, ultrastructural, or biochemical investigations. Neuromuscular disorders may presentwith only mild manifestations or may remain subclinical; thus, it would be interesting to know if creatine-kinase or serum lactate was elevated in the index patient or his parents.
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