Acute heart failure in dilated cardiomyopathy with TTN gene mutation : a case report and literature review

Scritto il 15/01/2026
da Maxime Degesves

Rev Med Liege. 2026 Jan;81(1):29-32.

ABSTRACT

Dilated cardiomyopathy (DCM) is a common cause of heart failure and may progress to acute decompensation requiring intensive care management. Genetic forms, particularly those associated with truncating mutations in the titin (TTN) gene, account for a significant proportion of DCM cases. The clinical case presented involves a young patient admitted to the intensive care unit for cardiogenic shock, revealing severe DCM. Etiological diagnosis was confirmed by genetic analysis, which identified a truncating mutation in the TTN gene. Initiation of optimal medical therapy led to partial recovery of cardiac function. This case highlights the importance of comprehensive etiological assessment in critical settings and underscores the specific management considerations of genetically determined DCM. A review of the literature is provided, focusing on the pathophysiological, clinical, and therapeutic aspects of this condition.

PMID:41537327