Cardiac amyloidosis with gastrointestinal involvement: a case report.
Med Ultrason
; 17(1): 123-5, 2015 Mar.
Article
em En
| MEDLINE
| ID: mdl-25745667
ABSTRACT
Familial amyloidosis is a rare type of amyloidosis, difficult to diagnose. We present the case of a woman with chronic heart failure. Low ejection fraction and concentric left ventricle hypertrophy with granular sparkling were seen by echocardiography and cardiac magnetic resonance imaging. Based on myocardial biopsy and genetic tests, the diagnosis of transthyretin familial amyloidosis, secondary to the Glu54Gln gene mutation, was made. The presentation contains the diagnostic algorithm used in the case of our patient, including clinical, biochemical, imaging, histological and genetic examinations, for the purpose of a complete diagnosis.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Ecocardiografia
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Imagem Cinética por Ressonância Magnética
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Neuropatias Amiloides Familiares
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Gastroenteropatias
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Insuficiência Cardíaca
Tipo de estudo:
Diagnostic_studies
Limite:
Female
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Humans
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Middle aged
Idioma:
En
Ano de publicação:
2015
Tipo de documento:
Article