PRKAG2 -Related Lethal Congenital Glycogen Storage Disease of the Heart as Rare Cause of Fetal Hydrops With Bradycardia and Cardiomyopathy: Clinical Report and Literature Review.

Abstract excerpt

Nonimmune foetal hydrops is a prenatal condition associated with significant perinatal mortality. It has so far been associated with over 200 chromosomal and monogenic conditions, most frequently chromosomal aneuploidies and RASopathies. Thorough clinical phenotyping and genetic evaluation are essential to determine the underlying etiology of this clinical entity and guide obstetrical and postnatal management. In...

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