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1.
J Nucl Cardiol ; 28(3): 1117-1125, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-32333280

RESUMO

We present a case of a 40-year-old Spanish man with cardiac amyloidosis in which a Tc-99m-3,3-diphosphono-1,2-propanodicarboxylic acid (Tc-99m-DPD) scintigraphy was strongly suggestive of cardiac amyloidosis by transthyretin (ATTR) but endomyocardial biopsy (EB) analyzed by immunohistochemistry demonstrated a light chain amyloidosis (AL). Even though the Tc-99m-DPD has proven in different published papers that has high sensibility and specificity for differentiating AL and ATTR cardiac amyloidosis, we present an unusual case of an AL cardiac amyloidosis with a Perugini grade 3 on the scintigraphy. Diagnostic approach of cardiac amyloidosis following consensus documents is discussed to avoid diagnostic mistakes based on imaging techniques.


Assuntos
Difosfonatos/farmacocinética , Cardiopatias/diagnóstico por imagem , Amiloidose de Cadeia Leve de Imunoglobulina/diagnóstico por imagem , Compostos de Organotecnécio/farmacocinética , Cintilografia , Compostos Radiofarmacêuticos/farmacocinética , Adulto , Ecocardiografia , Eletrocardiografia , Cardiopatias/metabolismo , Humanos , Amiloidose de Cadeia Leve de Imunoglobulina/metabolismo , Masculino
2.
J Fam Pract ; 69(8): 401-405, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-33175920

RESUMO

Dermatologic findings manifest in childhood, but the disease progresses to multiple organ systems. Here's how to proceed if you diagnose this in your patient.


Assuntos
Mutação , Neurofibromatose 1/complicações , Neurofibromatose 1/genética , Alelos , Progressão da Doença , Humanos , Neurofibromatose 1/fisiopatologia
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