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Heart failure & cardiomyopathiesResearch article

Hypertrophic cardiomyopathy caused by filamin-C variants has restrictive and extracardiac features and a distinctive electrocardiographic (ECG)

Heart RhythmPublished

  • Family-based studies in 2 specialist services and statistical modeling of rare filamin-C (FLNC) missense variants
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Authors' conclusion

Pathogenic FLNC variants in patients with HCM/RCM are nontruncating and cause a discrete phenotype comprising a characteristic ECG, hypertrophic and restrictive features without hypercontractility, and extracardiac abnormalities.

Study context

Population
Sarcomere-negative hypertrophic cardiomyopathy (HCM) cases and genome aggregation database controls; patients with HCM/restrictive cardiomyopathy (RCM) and a rare FLNC variantsarcomere-negative HCM cases 3,289 · genome aggregation database controls 122,348
Comparison
ECG-positive vs control HCM cohort
  • control HCM cohortn = 197

Main finding

As reported in the abstract

Distinct ECG repolarization phenotype

Further findings

Heart failure death, transplant, or cardiac arrest (at least 1 individual per family), ECG-positive group
58% · 7 of the 12 families events
Musculoskeletal abnormalities, ECG-positive group
33% · 4 families events

Cardiac phenotype in FLNC variant carriers with the characteristic ECG

Smaller left ventricular cavity size, lower contractility, more severe diastolic dysfunction, more likely restrictive phenotype

Rare FLNC missense variant burden (etiologic fraction)

all HCM cases, etiologic fraction
0.45 (95% CI 0.36-0.54)
ECG-positive cases, etiologic fraction
0.98 (95% CI 0.97-0.99)

Variant segregation and type, ECG-positive group

variants cosegregated
5 of 12 variants (41.7%)
apparently de novo
2
missense
11
splice site
1

Original publication

Hypertrophic cardiomyopathy caused by filamin-C variants has restrictive and extracardiac features and a distinctive ECG. Heart Rhythm. Published 9 February 2026. doi:10.1016/j.hrthm.2026.01.054
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Summarised from the published abstract; every number is checked against it