Key result
Biallelic inheritance of PKP2 gene pathogenic variants was associated with a severe phenotype of lethal non-immune hydrops fetalis and congenital cardiomyopathy in a male infant.
Case Report (n=1)
Biallelic inheritance of PKP2 gene pathogenic variants can present with a severe phenotype including lethal non-immune hydrops fetalis and congenital cardiomyopathy.
Biallelic PKP2 variants warrant consideration in lethal non-immune hydrops fetalis; extends phenotypic spectrum but hypothesis-generating.
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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AlSaif et al. (2023) conducted a case report in Non-immune hydrops fetalis associated with congenital cardiomyopathy (n=1). Biallelic inheritance of PKP2 variants was evaluated on Severe phenotype (lethal non-immune hydrops fetalis). Biallelic inheritance of PKP2 gene pathogenic variants was associated with a severe phenotype of lethal non-immune hydrops fetalis and congenital cardiomyopathy in a male infant.
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