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Case Reports
. 2024 Jan 2;17(1):e257482.
doi: 10.1136/bcr-2023-257482.

A novel combination of filamin C mutation and cardiorespiratory sarcoidosis in a patient with left ventricular systolic dysfunction

Mohammad Wasef  1 , Kaushik Guha  2
Affiliations
Case Reports

A novel combination of filamin C mutation and cardiorespiratory sarcoidosis in a patient with left ventricular systolic dysfunction

Mohammad Wasef et al. BMJ Case Rep. .

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.

Keywords: Cardiovascular medicine; Genetic screening / counselling; Heart failure.

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Conflict of interest statement

Competing interests: None declared.

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