A Case of Infiltrative Cardiomyopathy Secondary to Primary Hyperoxaluria Type 2 - Utilization of Multimodality Imaging

Primary hyperoxaluria is a rare genetic disorder characterized by oxalate crystal deposition, including in the heart. Hyperoxaluria-associated cardiomyopathy manifests as restrictive infiltrative cardiomyopathy. We present a case of a 52-year-old male with a past medical history of type 2 primary hyperoxaluria, end-stage renal disease on hemodialysis, paroxysmal atrial fibrillation, and hypertension, who presented with dyspnea and lethargy. Transthoracic echocardiogram showed cardiomyopathy with ejection fraction (EF) of 35-40% with severe hypokinesis of apical myocardium. Endomyocardial biopsy revealed interstitial fibrosis and crystal deposition consistent with oxalate. Cardiac MRI showed late gadolinium enhancement with subendocardial, nearly transmural fibrosis of lateral wall along with mid myocardial involvement of anterior and septal wall. To the best of our knowledge, this is the first case of type 2 primary hyperoxaluria-associated cardiomyopathy utilizing transthoracic echo, endomyocardial biopsy, and cardiac MRI.