TY - JOUR
T1 - Cardiac Amyloidosis in a Child Presenting with Syncope
T2 - The First Reported Case and a Diagnostic Dilemma
AU - Torpoco Rivera, Diana Milagros
AU - Williams, Celeste T.
AU - Karpawich, Peter P.
N1 - Publisher Copyright:
© 2021, The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.
PY - 2022/3
Y1 - 2022/3
N2 - 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.
AB - 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.
KW - Arrhythmia
KW - Cardiac amyloidosis
KW - Cardiomyopathy
KW - Transthyretin amyloidosis
UR - http://www.scopus.com/inward/record.url?scp=85119055731&partnerID=8YFLogxK
U2 - 10.1007/s00246-021-02778-9
DO - 10.1007/s00246-021-02778-9
M3 - Article
AN - SCOPUS:85119055731
VL - 43
SP - 700
EP - 703
JO - Pediatric Cardiology
JF - Pediatric Cardiology
SN - 0172-0643
IS - 3
ER -