Cardiac Amyloidosis in a Child Presenting with Syncope: The First Reported Case and a Diagnostic Dilemma.
Diana M Torpoco RiveraCeleste T WilliamsPeter P KarpawichPublished in: Pediatric cardiology (2021)
Cardiac amyloidosis is a rare cause of cardiomyopathy, reported exclusively in adults. We report the first known case presenting in childhood. A 12-year-old boy presented with syncope and diagnosed with ventricular non-compaction by echocardiography. Eventual genetic testing confirmed a TTR gene mutation associated with hereditary transthyretin amyloidosis.