Abnormalities of the FLNC gene encoding filamin C have been described in isolated myofibrillar myopathies or cardiomyopathies. Italian researchers conducted a retrospective study of paediatric forms of this rare disease.
- A series of 14 cases, mainly recruited by a network of Italian cardiologists, was compiled.
- Thirteen pathological variants of the FLNC gene were identified in this paediatric cohort.
- These cases represented 2.8% of the etiologies found in a larger group of 500 children investigated for various cardiac disorders.
- Genotype analysis revealed a particularly difficult to identify deletion and another highly prevalent mutation (p.Ala1186Val).
- The authors highlight a high frequency of long QT syndromes in this group as well as signs of skeletal muscle damage in some patients.
