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

被引：3

作者：

Rivera, Diana Milagros Torpoco ^{[1
,2
]}

Williams, Celeste T. ^{[3
]}

Karpawich, Peter P. ^{[1
,2
]}

机构：

[1] Childrens Hosp Michigan, Div Cardiol, 3901 Beaubien Blvd, Detroit, MI 48201 USA

[2] Cent Michigan Univ, Dept Pediat, Coll Med, Mt Pleast, MI 48858 USA

[3] Henry Ford Hosp, Div Cardiol, Detroit, MI USA

来源：

PEDIATRIC CARDIOLOGY | 2022年 / 43卷 / 03期

关键词：

Cardiac amyloidosis; Transthyretin amyloidosis; Arrhythmia; Cardiomyopathy; CARDIOMYOPATHY; PHENOTYPE;

D O I：

10.1007/s00246-021-02778-9

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：700 / 703

页数：4

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