Left Ventricular Hypertrabeculation / Noncompaction Associated with a SDHD Mutation

Abstract

In a recent article Alston et al. reported about a male neonate with mitochondrial disorder (MID) due to the novel homozygous mutation c.275A>G in the SDHD gene [1]. The only affected organ in this boy was the heart [1]. We have the following comments and concerns. In the vast majority of the cases noncompaction, also known as left ventricular hypertrabeculation (LVHT), is congenital [2] and LVHT can be detected already prenatally by fetal echocardiography [3]. Which was the reason why LVHT was recognised neither on fetal echocardiography nor on fetal cardiac MRI and not before postnatal echocardiography? Since it is quite unusual that LVHT is missed on echocardiography and cardiac MRI it can be speculated that it developed after the last cardiac imaging at gestation week 32. Were fetal echocardiographies and fetal cardiac MRI reviewed after detection of LVHT on postnatal echocardiography and autopsy?