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Cardiac Amyloidosis in a Child Presenting with Syncope: The First Reported Case and a Diagnostic Dilemma.
Pediatric Cardiology ( IF 1.5 ) Pub Date : 2021-11-16 , DOI: 10.1007/s00246-021-02778-9 Diana Milagros Torpoco Rivera 1, 2 , Celeste T Williams 3 , Peter P Karpawich 1, 2
Pediatric Cardiology ( IF 1.5 ) Pub Date : 2021-11-16 , DOI: 10.1007/s00246-021-02778-9 Diana Milagros Torpoco Rivera 1, 2 , Celeste T Williams 3 , Peter P Karpawich 1, 2
Affiliation
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.
中文翻译:
患有晕厥的儿童的心脏淀粉样变性:首例报告病例和诊断困境。
心脏淀粉样变性是心肌病的一种罕见病因,仅在成人中报道。我们报告了第一个在儿童时期出现的已知病例。一名 12 岁男孩出现晕厥,经超声心动图诊断为心室致密化不全。最终的基因检测证实了与遗传性转甲状腺素蛋白淀粉样变性相关的 TTR 基因突变。
更新日期:2021-11-16
中文翻译:
患有晕厥的儿童的心脏淀粉样变性:首例报告病例和诊断困境。
心脏淀粉样变性是心肌病的一种罕见病因,仅在成人中报道。我们报告了第一个在儿童时期出现的已知病例。一名 12 岁男孩出现晕厥,经超声心动图诊断为心室致密化不全。最终的基因检测证实了与遗传性转甲状腺素蛋白淀粉样变性相关的 TTR 基因突变。