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
收藏
页码：700 / 703
页数：4
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