Paediatric forms of FLNC cardiomyopathy are rare but important to know

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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.

 

Cardiovascular Involvement in Pediatric FLNC Variants: A Case Series of Fourteen Patients. Baban A, Alesi V, Magliozzi M et al. J Cardiovasc Dev Dis. 2022 Sep 30;9(10):332.

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