Abstract 12029: A Case of Nestled Rings - Micro and Macroscopic Cardiac Dysfunction in a 46 Year-Old Male with Progressive Heart Failure
A 46 year-old male presented to the hospital with three months of progressive shortness of breath, lower extremity edema, and weight gain. He had been diagnosed with idiopathic pericarditis five months prior, non-ischemic systolic heart failure two months prior, and had a significant history of alcohol use. On presentation, he was hypotensive and appeared moderately ill. Examination revealed pulsus paradoxus, and signs of volume overload and poor perfusion. Laboratory values revealed acute renal failure, mild hyponatremia, and mildly elevated INR. The ECG showed sinus rhythm with low QRS voltage and nonspecific ST and T wave abnormalities. The chest x-ray revealed a large right sided pleural effusion. Echocardiography showed mild left ventricular systolic dysfunction, a septal “bounce,” pericardial thickening and adhesion of the pericardium, and preserved mitral annular E’ velocities. Right heart catheterization revealed equalization of diastolic pressures and decreased cardiac index. Cardiac MRI revealed a thickened pericardium adherent to the right ventricle, and no myocardial atrophy. Endomyocardial biopsy performed to evaluate the systolic dysfunction revealed abnormal myocyte histology, with prominent glycogen, lipid droplets, and sarcoplasmic lamellar bodies most consistent with Fabry disease, a disorder of alpha-galactosidase activity. The patient was supported with dopamine and continuous veno-venous hemofiltration, and subsequently underwent pericardiectomy with marked improvement in hemodynamics. On follow up, the patient is doing well, and further testing for systemic and cardiac variant Fabry disease with alpha-galactosidase assays and gene mutation analysis have been unrevealing. This case illustrates a challenging differential diagnosis in the face of unexpected results, and the importance of using all available clinical data in diagnosing an atypical presentation of a rare disease process. It is also first description of these biopsy findings in the setting of pericardial disease.
- © 2011 by American Heart Association, Inc.