Resumo

GARCIA-OLEA, Alain; REKONDO, Javier Gregorio; MAEZTU, Mikel  e  FERNANDEZ, Iria. Transthyretin cardiac amyloidosis with an unusual clinical presentation: dilated cardiomyopathy. Cardiovasc. metab. sci [online]. 2021, vol.32, n.2, pp.101-104.  Epub 05-Abr-2024. ISSN 2954-3835.  https://doi.org/10.35366/99747.

Transthyretin amyloid (ATTR) cardiomyopathy is an underdiagnosed clinical entity. The low awareness of the disease prevalence, the variability of its clinical presentation and the tissue biopsy histopathological-based diagnosis are the main reasons for its underdiagnosis. The recent development of specific therapies makes the celerity in the diagnosis and its characterization especially important in order to initiate an early treatment in selected variants. In most cases, its clinical manifestation is as congestive heart failure (HF), and echocardiographic studies show a hypertrophic, restrictive, non-compliant, non-dilated left ventricle. In this clinical case, we report an 85-year-old patient who had a first HF episode and whose echocardiogram revealed a dilated cardiomyopathy (DCM). After the study with MRI, bone scintigraphy and catheterization, the diagnosis of ATTR amyloidosis was achieved. ATTR should be included in the differential diagnosis of idiopathic DCM, especially in the elderly.

Palavras-chave : Cardiomyopathy; dilated; amyloidosis; transthyretin; case report; heart failure.