Pitfalls for the non-invasive diagnosis of wild-type transthyretin amyloid cardiomyopathy in a young adult: a case report.

Background: Using technetium (Tc)-labelled pyrophosphate (PYP) cardiac scintigraphy, a non-invasive diagnosis of transthyretin amyloid (ATTR) cardiomyopathy can be made without histopathological confirmation. In patients suspected of ATTR cardiomyopathy, however, atypical presentations may necessitate further investigation. Case summary: A 30-year-old man with hypertension and end-stage renal disease on peritoneal dialysis presented with progressive exertional dyspnoea. Left ventricular hypertrophy (LVH) with a maximal end-diastolic wall thickness up to 16 mm was detected on echocardiography. Speckle-tracking analysis revealed a reduced longitudinal strain of left ventricle with a relative apical sparing pattern. Although the absence of monoclonal gammopathy, a grade 3 myocardial uptake in Discussion: When patients with unexplained LVH meet the non-invasive diagnostic criteria for ATTR cardiomyopathy, an EMB should be considered in selected cases. Patients presenting at an atypical age for wild-type ATTR cardiomyopathy, absence of extracardiac symptoms/signs or classic electrocardiogram features for cardiac amyloidosis should be suspected of another diagnosis and require further CMR or EMB to confirm.