Article
A novel combination of filamin C mutation and cardiorespiratory sarcoidosis in a patient with left ventricular systolic dysfunction.
BMJ case reports - 2 Jan 2024
Wasef Mohammad, Guha Kaushik
Abstract excerpt
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...
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