Key result
The authors question the delayed diagnosis of left ventricular hypertrabeculation in a neonate with an SDHD mutation and suggest investigating other genetic causes and family members.
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Highlights the association between a novel homozygous SDHD mutation and left ventricular hypertrabeculation/noncompaction in a neonate.
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].
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Josef Finsterer (2018) conducted a letter in Left Ventricular Hypertrabeculation / Noncompaction (n=1). SDHD mutation c.275A>G was evaluated. The authors question the delayed diagnosis of left ventricular hypertrabeculation in a neonate with an SDHD mutation and suggest investigating other genetic causes and family members.
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