Cardiac Amyloidosis in a Child Presenting with Syncope: The First Reported Case and a Diagnostic Dilemma
| Autor: | Peter P. Karpawich, Celeste T. Williams, Diana Milagros Torpoco Rivera |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
medicine.medical_specialty
biology medicine.diagnostic_test business.industry Amyloidosis Cardiomyopathy Syncope (genus) nutritional and metabolic diseases Gene mutation Vascular surgery medicine.disease biology.organism_classification Transthyretin Cardiac amyloidosis Internal medicine Pediatrics Perinatology and Child Health biology.protein medicine Cardiology Cardiology and Cardiovascular Medicine business Genetic testing |
| Zdroj: | Pediatric Cardiology. 43:700-703 |
| ISSN: | 1432-1971 0172-0643 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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