A novel combination of filamin C mutation and cardiorespiratory sarcoidosis in a patient with left ventricular systolic dysfunction.
BMJ Case Rep
; 17(1)2024 Jan 02.
Article
em En
| MEDLINE
| ID: mdl-38167413
ABSTRACT
Cardiac sarcoidosis is an unpredictable, rare and potentially lethal condition whereby patients are exposed to sudden cardiac death. However, despite sophisticated imaging techniques and the need for careful multidisciplinary team assessment and management, the contribution from genetic mutations is uncertain. Hence, the case describes a novel observation of a patient who possessed both a filamin C mutation and cardiac sarcoidosis. The case highlights the need for detailed dedicated investigation and highlights the need for the consideration of genetic screening within patients with cardiac sarcoidosis.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Sarcoidose
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Disfunção Ventricular Esquerda
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Cardiomiopatias
Idioma:
En
Ano de publicação:
2024
Tipo de documento:
Article
País de afiliação:
Reino Unido