Quick Fire Cases
Maria Isabel Camara Planek, MD
Fellow Physician
Rush University Medical Center
Maria Isabel Camara Planek, MD
Fellow Physician
Rush University Medical Center
Janki Thakker, MD
Physician
Rush University Medical Center
Nicholas Grewal, MD
Physician
Rush University Medical Center
Joanne Sutter, MD
Physician
Rush University Medical Center
R. Jeffrey Snell, MD
Physician
Rush University Medical Center
Karolina Marinescu, MD
Physician
Rush University Medical Center
Anupama Rao, MD, FACC, FSCMR
Physician, Associate Professor of Medicine
Rush University Medical Center/St. Luke's Hospital
An 80-year-old female with medical history of HFpEF, right ventricular dysfunction, coronary artery disease status post CABG, and atrial fibrillation status post left atrial appendage occluder device and ablation presented as a follow up visit to Heart Failure and Electrophysiology Clinic after ablation.
It was noted in clinic that a recent colonoscopy with biopsy was positive for amyloidosis AA and type P. Given persistent symptoms of dyspnea following ablation and left ventricular (LV) concentric hypertrophy noted on prior imaging, work up for cardiac amyloidosis was pursued.
Transthoracic echocardiography demonstrated LV concentric hypertrophy, grade 3 diastolic dysfunction, abnormal global longitudinal strain (GLS) at –8% and abnormal GLS pattern with relative apical sparing ratio at 1.32 which was suggestive for the presence of amyloidosis.
On cardiac MRI (CMR), there was evidence of abnormal gadolinium kinetics with nulling of the myocardium before the blood pool. On late gadolinium enhancement (LGE) imaging, there was circumferential, subendocardial to near transmural uptake. There was bi-atrial enhancement and enhancement of the right ventricular myocardium. Lastly there was markedly increased extracellular volume (ECV) at 68.5%. Overall findings were consistent with cardiac amyloidosis, specifically suggestive of transthyretin (ATTR) amyloidosis.
Technetium pyrophosphate scanning was positive, suggestive of ATTR amyloidosis.
Next, after hematology consultation the patient underwent a bone marrow biopsy that showed normal cellularity.
Lastly, the patient underwent endomyocardial biopsy (EMBx) which was consistent with wild type ATTR amyloidosis.
In this case, CMR was critical to the diagnosis and prognosis of cardiac amyloidosis. Amyloid remodeling of the extracellular matrix and expansion of ECV is demonstrated in our patient’s CMR. Difficulty nulling the myocardium before the blood pool on T1 scout is strongly suggestive of cardiac amyloid. The CMR pattern of LGE is sensitive and specific as well, and this case demonstrated the classic pattern with near transmural uptake, which is a significant predictor of mortality. Lastly, post contrast T1 mapping and ECV quantification provides insight into myocardial response to amyloid, which has been shown to be higher in ATTR than AL.
This case also highlights the importance of correlating imaging with pathology if clinical suspicion remains for other etiologies of heart failure. In our case, the patient already had diagnosis of colonic Type A and P amyloidosis, but as both CMR and PYP scan suggested ATTR, EMBx confirmed that the patient indeed had three mechanisms of systemic amyloidosis.
