Key result
Fetal hydrops and LVNC link to multiple variants of unknown significance in sarcomeric genes.
Case Report (n=1)
This case highlights that fetal ventricular noncompaction cardiomyopathy can present as hydrops and may be associated with a synergistic combination of variants in sarcomeric genes rather than a single-gene mutation.
May suggest polygenic sarcomeric contribution to fetal noncompaction hydrops; hypothesis-generating, should not yet alter practice.
Ventricular noncompaction cardiomyopathy is a rare form of congenital cardiomyopathy with increasing evidence of genetic etiology, especially when presenting in childhood. Fetal presentation is rare. We describe a case of fetal hydrops, presenting at 24 weeks gestation and leading to intrapartum death at 26 weeks gestation. Autopsy examination revealed characteristic features of left ventricular noncompaction. A genetic analysis identified a constellation of variants of unknown significance in MYH6, TNNC1, and MYBPC3, genes known to be important in sarcomeric function. Additionally, the variant in MYBPC3 was homozygous. While this case did not demonstrate a conventional single-gene mutation as the cause of the ventricular noncompaction, a broader genomic investigation revealed several variants in sarcomeric genes which may act synergistically to impact cardiac function.
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Armes et al. (2017) conducted a case report in Ventricular noncompaction cardiomyopathy (n=1). Variants in MYH6, TNNC1, and MYBPC3 was evaluated on Clinical outcome and genetic findings. A fetus presenting with hydrops at 24 weeks gestation and left ventricular noncompaction was found to have multiple variants of unknown significance in sarcomeric genes MYH6, TNNC1, and MYBPC3.
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