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Secondary endocardial fibroelastosis associated with Pompe disease and multicystic dysplastic kidney
Insights
This case study describes an infant with Pompe disease and multicystic dysplastic kidney experiencing severe heart and renal failure. Glycogen accumulation led to endocardial fibroelastosis and worsened cardiac function.
Area of Science:
- Pediatric Cardiology
- Metabolic Disorders
- Renal Pathology
Background:
- Endocardial fibroelastosis (EFE) is a rare condition characterized by thickening of the heart's inner lining.
- Glycogen storage disease II (Pompe disease) is a metabolic disorder affecting glycogen breakdown.
- Multicystic dysplastic kidney (MCDK) is a congenital kidney abnormality.
Observation:
- An infant presented with refractory heart and renal failure in the neonatal period.
- Despite intensive medical support including catecholamines, diuretics, ventilation, and peritoneal dialysis, cardiac function progressively declined.
- Histological examination revealed significant endocardial thickening (fibroelastosis) and glycogen accumulation within cardiomyocytes.
Findings:
- The endocardial fibroelastosis was attributed to glycogen-induced degeneration of endocardial smooth muscle and cardiomyocytes.
- Glycogen accumulation in cardiac muscle cells directly contributed to the observed fibroelastosis and reduced left ventricular contractility.
- The co-existing MCDK was hypothesized to increase ventricular preload, exacerbating heart failure.
Implications:
- This case highlights the severe cardiac manifestations of Pompe disease, particularly secondary EFE.
- It underscores the critical interplay between metabolic disorders, renal function, and cardiovascular health in infants.
- Early recognition and management of glycogen storage diseases are crucial for preventing life-threatening cardiac complications.
Abstract:
An infant with secondary endocardial fibroelastosis (EFE) associated with glycogen storage disease II (Pompe disease) and multicystic dysplastic kidney (MCDK) is described. She had had refractory heart and renal failure from the early neonatal period. In spite of administration of cathecholamines and diuretics, ventilator support, and peritoneal dialysis, her heart failure due to reduction of left ventricular contractility progressively worsened. She died on the 40th day after admission. Histological examination of a left ventricular autopsy specimen showed prominent thickening of the endocardium due to fibroelastosis, and a lacework-like structure due to accumulation of glycogen in the cardiomyocytes. The EFE was derived from degeneration of the smooth muscle in the endocardium and cardiomyocytes due to glycogen storage. In addition, we supposed that the renal failure due to MCDK made the preload for the ventricles increase and accelerated her heart failure.