Clinical utility of FLNC variants identified in 4 young Czech people with sudden cardiac arrest for clinical management of their at risk relatives
2019
Abstrakt
Mutations in FLNC gene were initially related to muscular dystrophy and myofibrillar myopathy but more recently, variants in FLNC were reported to cause familial cardiomyopathies in the absence of skeletal muscle defects. Truncating mutations in FLNC cause an overlapping phenotype of dilated cardiomyopathy (DCM) or arrhythmogenic (ACM) cardiomyopathy while missense mutations are associated with familiar hypertrophic (HCM) or dilated cardiomyopathy and might also play an important role in cases of unexplained sudden cardiac death (SCD) in young subjects.