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