In a recent article, Pipitone et al. [1] reported about a fetus
with calcified left ventricular hypertrabeculation / noncompaction
(LVHT) and persistence of the abnormality after delivery [1]. We
have the following comments and concerns regarding this paper.
LVHT is frequently associated with other cardiac abnormalities or
diseases of organs other than the heart. Was the index patient or
any of the relatives investigated for multisystem involvement? Was
there any indication for cerebral, ocular, otologic, endocrine, cardiac,
intestinal, renal, haematological, or cutaneous abnormalities in
addition to LVHT?
LVHT is frequently associated with severe complications,
such as heart failure, ventricular arrhythmias and sudden cardiac
death, or stroke / embolism. Was the history of the index patient
or of any of his relatives positive for any of these complications?
LVHT is frequently associated with neuromuscular disorders
(NMDs) or chromosomal abnormalities [2]. Was the individual or
family history positive for NMD or a chromosomal defect or were
there any clinical indications for a NMD in the index case or any
of his relatives? Was there any indication for dysmorphism? LVHT
frequently occurs familiarly [2]. Was the mother or any other firstdegree
relative investigated for LVHT and which were the results?
LVHT is not a congenital abnormality in each case. Particularly, in
pregnant women, athletes, or some NMDs, LVHT has been shown to
develop during postnatal life (acquired LVHT) [2-10].
Myocardial calcification in LVHT patients has been only
reported in a patient with MBL-deficiency [3], local myocardial
dysregulation [4], and coronary microcirculatory dysfunction
[5]. The cause of the calcifications may not only be infectious,
autoimmune, or hypoxic but could be also degenerative
or due to MBL-deficiency [9]. Calcification of the basal
ganglia have been found in patients with LVHT [7]. Were
calcifications found in the presented patient at any site other than
the heart? Was the gravida living together with animals? Was a
protozoonosis (toxoplasmosis) or helminthosis excluded as the
cause of the calcifications? Was there eosinophilia in the index
patient or his mother? Which were the levels of calcium, phosphate,
parathormone, and calcitonin? Was the history in the index patient
or his mother positive for endocarditis or myocarditis? Was the
mother a smoker, a drug abuser or was she HIV-positive? Was the
psychomotor development normal in the index case? Which was the
AGPAR score at birth? Which was the reason for the reduced birth
weight? Overall, basic work-up of index cases with LVHT and their
family members is a prerequisite to contribute to the clarification
of the still unknown pathogenetic background of LVHT. Not to miss
the point of prophylactic measures against possible complications
of LVHT, close and regular follow-up investigations of index cases
are recommended.