Key result
Novel FLNC truncating variant linked to advanced conduction defects and mild hypertrophic cardiomyopathy.
Why the study?
Filamin C truncating variants are known to cause severe dilated cardiomyopathy, but their effect on cardiac conduction defects and mild cardiomyopathy is not well characterized.
Case Report (n=1)
This case demonstrates that FLNC truncating variants can present with predominantly advanced conduction defects and mild hypertrophic cardiomyopathy, expanding the known phenotypic spectrum beyond severe dilated cardiomyopathy.
Answers are grounded in this paper and cite their sources.
FLNC truncating variants may present with predominant conduction disease and mild HCM; hypothesis-generating and should not yet change practice.
Filamin C (FLNC), recently identified as a causative gene of cardiomyopathy, is widely expressed in cardiomyocytes and is involved in signal transduction between the sarcomere and the plasma membrane. In general, the FLNC truncating variant causes severe dilated cardiomyopathy. A 70-year-old female was referred to our hospital with advanced conduction defects and underwent pacemaker implantation. Cardiac MRI revealed mild hypertrophic cardiomyopathy. As her father also underwent pacemaker implantation due to a cardiac conduction defect, the presence of familial cardiac arrhythmia was suspected. A whole-exome sequencing identified the FLNC truncating variant (NM_001458.5 FLNC:c.592_593del, p.Cys198Argfs*40). We experienced an FLNC-related cardiomyopathy case with predominantly advanced conduction defects, which postulated that the variant mainly affected the conduction system.
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Ebana et al. (2024) conducted a case report in Advanced conduction defects and mild hypertrophic cardiomyopathy (n=1). FLNC truncating variant (NM_001458.5 FLNC:c.592_593del, p.Cys198Argfs*40) was evaluated on Genetic diagnosis. A pathogenic FLNC truncating variant (p.Cys198Argfs*40) was identified as the cause of predominantly advanced conduction defects and mild hypertrophic cardiomyopathy in a 70-year-old female.
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