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Case Reports
. 2022 Mar;43(3):700-703.
doi: 10.1007/s00246-021-02778-9. Epub 2021 Nov 16.

Cardiac Amyloidosis in a Child Presenting with Syncope: The First Reported Case and a Diagnostic Dilemma

Diana Milagros Torpoco Rivera  1   2 , Celeste T Williams  3 , Peter P Karpawich  4   5
Affiliations
Case Reports

Cardiac Amyloidosis in a Child Presenting with Syncope: The First Reported Case and a Diagnostic Dilemma

Diana Milagros Torpoco Rivera et al. Pediatr Cardiol. 2022 Mar.

Abstract

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.

Keywords: Arrhythmia; Cardiac amyloidosis; Cardiomyopathy; Transthyretin amyloidosis.

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