Case Report: Lethal Non-immune Hydrops Fetalis with Biallelic Inheritance of PKP2 Variants

Here we describe a male infant with non-immune hydrops fetalis associated with congenital cardiomyopathy diagnosed prenatally. Whole-exome sequencing detected compound heterozygous c.1688+1G>A and p.(Asn759Ilefs*41) variants in the PKP2 gene inherited independently from his asymptomatic parents. Our present case supports the severe phenotype of biallelic inheritance of PKP2 gene pathogenic variants