Filamin C Gene Mutation in Familial Hypertrophic Cardiomyopathy
Document Type
Article
Abstract
Background: Pathogenic mutations in Filamin C (FLNC) gene are recently found in association with hypertrophic cardiomyopathy (HCM) with increased risk of ventricular arrhythmia and sudden cardiac death (SCD).
Case: A 37-year-old woman was seen in emergency department with severe dyspnea. ECG showed LVH and T wave abnormality. NTproBNP was 1144 pg/mL. Echocardiogram showed severe asymmetric septal hypertrophy (23 mm, Figure) without dynamic obstruction. Left atrium was mildly dilated, and there was pseudonormal LV filling pattern. Cardiac MRI confirmed presence of asymmetric septal hypertrophy (23 mm, Figure) without myocardial scarring. No family history of cardiomyopathy or SCD. Genetic testing revealed a unique non-truncating heterozygous single nucleotide mutation (Val2684Glyfs*88) on exon 48 of FLNC gene.
Decision-making: Ambulatory heart rhythm monitor revealed high burden of non-sustained ventricular tachycardia and an ICD was implanted for primary prevention of SCD.Targeted gene family screening indicated positive results in patient's mother, daughter and all siblings (Figure). All brothers have marked LVH and abnormal repolarization on ECG.
Conclusion: FLNC gene mutations are increasingly reported in association with familial HCM. Although early reports have indicated relatively high incidence of malignant arrhythmias and SCD, understanding the full spectrum of clinical presentation, course, and outcome of FLNC gene related HCM requires further validation.
First Page
2827
DOI
10.1016/S0735-1097(24)04817-4
Publication Date
4-2-2024
Recommended Citation
Shadman S, Gasimli-Gamache L, Luther S, Shirani J. FILAMIN C GENE MUTATION IN FAMILIAL HYPERTROPHIC CARDIOMYOPATHY. Journal of the American College of Cardiology. 2024 Apr 2;83(13_Supplement):2827-.