Abstract
Protein kinase adenosine monophosphate-activated non-catalytic subunit gamma 2 (PRKAG2) cardiac syndrome is a rare genetic disorder characterized by hypertrophic cardiomyopathy and heart rhythm disturbances caused by mutations in the PRKAG2 gene. Reports on PRKAG2 cardiac syndrome associated with refractory chylous effusion are extremely limited. Here, we present a neonatal case involving severe hypertrophic obstructive cardiomyopathy accompanied by chylous ascites and lymphatic malformations. The patient was diagnosed prenatally with hypertrophic cardiomyopathy. After birth, she developed severe respiratory failure, along with refractory chylous and pericardial effusions. Lymphoscintigraphy revealed lymphatic malformations in the right inguinal region. Prednisolone and sirolimus were administered to manage the chylous ascites and lymphatic malformations. Unfortunately, the patient succumbed to sepsis at two months of age. A de novo c.1592G>A (p.Arg531Gln) heterozygous variant of PRKAG2 has also been identified. The association between PRKAG2, chylous effusion, and lymphatic malformations remains unclear. Further research is required to assess the effects and safety of prednisolone and sirolimus on chylous ascites in patients with PRKAG2 cardiac syndrome.