Spettro clinico, fenotipi cardiaci e esiti delle cardiomiopatie correlate a FHL1: una revisione sistematica.

BACKGROUND: Mutations in the Four-and-a-Half LIM Domains 1 (FHL1) gene are increasingly recognized as a rare cause of inherited cardiomyopathies, often associated with skeletal myopathy and adverse cardiac outcomes. The phenotypic spectrum and clinical implications of FHL1 variants remain poorly defined. OBJECTIVE: To systematically review published cases of FHL1-related cardiomyopathy and characterize the clinical, genetic, and pathological features. METHODS: We conducted a systematic literature search in PubMed and EMBASE up to July 2025 using predefined criteria to identify studies reporting clinical cases of patients with FHL1 mutations and cardiac involvement. Data on genotype, phenot