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

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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.

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The author(s) received no financial support for the research, authorship, and/or publication of this article.

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Authors and Affiliations

  1. Division of Cardiology, The Children’s Hospital of Michigan, 3901 Beaubien Boulevard, Detroit, MI, 48201, USA

    Diana Milagros Torpoco Rivera & Peter P. Karpawich

  2. Department of Pediatrics, Central Michigan University College of Medicine, Mount Pleasant, MI, USA

    Diana Milagros Torpoco Rivera & Peter P. Karpawich

  3. Division of Cardiology, Henry Ford Hospital, Detroit, MI, USA

    Celeste T. Williams

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  1. Diana Milagros Torpoco Rivera
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  2. Celeste T. Williams
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  3. Peter P. Karpawich
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Correspondence to Diana Milagros Torpoco Rivera.

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Torpoco Rivera, D.M., Williams, C.T. & Karpawich, P.P. Cardiac Amyloidosis in a Child Presenting with Syncope: The First Reported Case and a Diagnostic Dilemma. Pediatr Cardiol 43, 700–703 (2022). https://doi.org/10.1007/s00246-021-02778-9

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  • DOI: https://doi.org/10.1007/s00246-021-02778-9

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