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
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