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

Diana Milagros Torpoco Rivera, Celeste T. Williams, Peter P. Karpawich

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)700-703
Number of pages4
JournalPediatric Cardiology
Volume43
Issue number3
DOIs
StatePublished - Mar 2022

Keywords

  • Arrhythmia
  • Cardiac amyloidosis
  • Cardiomyopathy
  • Transthyretin amyloidosis

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