Key result
FLNC mutations were present in 7.2% of HCM patients and did not significantly increase the risk of all-cause mortality compared to those without mutations (HR 0.746; 95% CI 0.222-2.295; p=0.575).
Why the study?
Does the presence of FLNC mutations increase the risk of mortality or adverse cardiac events in patients with hypertrophic cardiomyopathy?
Observational (n=847)
Does the presence of FLNC mutations increase the risk of mortality or adverse cardiac events in patients with hypertrophic cardiomyopathy?
Hazard Ratio: 0.746 (95% CI 0.222–2.295)
p-value: p=0.575
FLNC mutations occur at similar frequencies in HCM patients and healthy controls and do not significantly impact mortality or sudden cardiac arrest risk in HCM.
Clinical meaning:* Does not currently justify using FLNC mutation status alone to predict worse survival or alter.
BACKGROUND: Filamin C (FLNC) mutation was reported as a cause of HCM, with a high probability of sudden cardiac death. However, the mutation profile of FLNC, and its relationship with phenotypic expression in HCM, remains to be elucidated. METHODS: In this study, FLNC gene was sequenced in 540 HCM patients and 307 healthy controls. RESULTS: We found that 39 (7.2%) patients carried FLNC mutations, with a similar frequency to that of controls (4.2%, p = 0.101). Pedigree analysis showed that mutations were not well segregated with HCM. The baseline characteristics between HCM patients, with and without mutations, were comparable. FLNC mutations did not increase the risk for either all-cause mortality (HR 0.746, 95% CI 0.222-2.295, p = 0.575) or cardiac mortality (HR 0.615, 95% CI 0.153-1.947, p = 0.354) in HCM patients during a follow-up of 4.7 ± 3.2 years. Moreover, there was no significant difference in survival free from sudden cardiac arrest (HR 0.721, 95% CI 0.128-3.667, p = 0.660) and heart failure (HR 0.757, 95% CI 0.318-1.642, p = 0.447). CONCLUSIONS: FLNC mutations were common in both HCM patients and healthy population. The pathogenicity of FLNC mutations detected in HCM patients and its association with the clinical outcomes should be cautiously interpreted.
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Cui et al. (2018) conducted an observational in Hypertrophic cardiomyopathy (n=847). FLNC mutations vs. No FLNC mutations was evaluated on All-cause mortality (HR 0.746, 95% CI 0.222-2.295, p=0.575). FLNC mutations were present in 7.2% of HCM patients and did not significantly increase the risk of all-cause mortality compared to those without mutations (HR 0.746; 95% CI 0.222-2.295; p=0.575).
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