University of Illinois, USA
Title: A case of cardiac amyloidosis with a negative biopsy from a noncardiac site
Affan Irfan is currently a third year internal medicine resident at University of Illinois - Urbana Champaign, Illinois, USA. He graduated from Aga Khan University Medical College, Pakistan in 2008 and then worked as Postdoctoral Research Fellow in Department of Medicine and Cardiology at University Hospital Basel, Switzerland. He will pursue cardiovascular fellowship after his internal medicine graduation in June 2014.
A 63 year old male presented with acute right side weakness and dysarthria consistent with cerebrovascular accident. Prior history was significant for heart failure and hypertension. EKG showed atrial flutter with left bundle branch block. He received thrombolytic therapy which resolved his symptoms completely. TEE showed severe concentric hypertrophy with moderate to severely reduced LV function, EF of 35%. Right ventricular function was severely hypokinetic. Echo also showed moderate biatrial enlargement, thickened inter-atrial septum, and left atrial appendage thrombus. Thrombus was also noted below the tricuspid and mitral valves. The posterior mitral leaflet was immobile and there was trace mitral, tricuspid and moderate aortic regurgitation. Patient was started on anticoagulation, beta blockers, ACEI, aldosterone antagonist and diuretic. Cardiac catheterization did not show any significant obstructive coronary artery disease suggesting non-ischemic cardiomyopathy. Patient subsequently underwent a biventricular-ICD placement. Serial TEEs showed persistent left atrial thrombus despite therapeutic anticoagulation for 3 months. Based on echocardiographic findings there was concern for cardiac amyloidosis. However, serum and urine protein electrophoresis as well as abdominal fat pad biopsy were negative for amyloidosis. Due to strong clinical suspicion, myocardial biopsy was done which was consistent with cardiac amyloidosis suggesting isolated cardiac involvement. Patient was referred to tertiary care center for further treatment. This case illustrates the importance of pursuing a cardiac biopsy in cases with strong clinical suspicion even if hematological work up and fat pad biopsy are negative.