ArticleEuropean journal of human genetics : EJHG2023
Tools to differentiate between Filamin C and Titin truncating variant carriers: value of MRI.
Article in European journal of human genetics : EJHG, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 12 citations in OpenAlex.
- Microstructural disease and hypoperfusion in dilated cardiomyopathy underpin midwall septal fibrosis.Journal of cardiovascular magnetic resonance : official journal of the Society for Cardiovascular Magnetic Resonance · 2026Article
- Genotype-phenotype correlations in patients with pathogenic/likely pathogenic titin variants from the Swiss Arrhythmogenic Cardiomyopathy Registry.Open heart · 2026Observational
- Study design and rationale of the Visualizing Subclinical Myocardial Changes with Shear Wave Elastography in Dilated Cardiomyopathy (VISUALIZE-DCM) trial.European heart journal. Imaging methods and practice · 2026Article
- Clinical care of family members of patients with dilated cardiomyopathy.European heart journal · 2025Article
- Novel Fibrosis Pattern in an Arrhythmogenic Cardiomyopathy Caused by a Titin-Truncating Variant.Circulation. Cardiovascular imaging · 2025Article
- Left Ventricular Ring-like Pattern: The Arrhythmic Tale of a Scarred Heart.Journal of cardiovascular development and disease · 2025Review
- TTN:c.12478del in proximal I-band of titin represents a common molecular cause of dilated cardiomyopathy in Slovenian patients.Orphanet journal of rare diseases · 2025Article
- Imaging Advances in Heart Failure.Cardiac failure review · 2024Review
- The next step toward personalized recommendations for genetic cardiomyopathies.European journal of human genetics : EJHG · 2023Article
- Deep phenotyping and population-level data can help resolve genomic variants.European journal of human genetics : EJHG · 2023Article
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12 authors at 5 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
Whereas truncating variants of the giant protein Titin (TTNtv) are the main cause of familial dilated cardiomyopathy (DCM), recently Filamin C truncating variants (FLNCtv) were identified as a cause of arrhythmogenic cardiomyopathy (ACM). Our aim was to characterize and compare clinical and MRI features of TTNtv and FLNCtv in the Belgian population. In index patients referred for genetic testing of ACM/DCM, FLNCtv and TTNtv were found in 17 (3.6%) and 33 (12.3%) subjects, respectively. Further family cascade screening yielded 24 and 19 additional truncating variant carriers in FLNC and TTN, respectively. The main phenotype was ACM in FLNCtv carriers whereas TTNtv carriers showed either an ACM or DCM phenotype. Non-sustained Ventricular Tachycardia was frequent in both populations. MRI data, available in 28/40 FLNCtv and 32/52 TTNtv patients, showed lower Left Ventricular (LV) ejection fraction and lower LV strain in TTNtv patients (p < 0.01). Conversely, both the frequency (68% vs 22%) and extent of non-ischemic myocardial late gadolinium enhancement (LGE) was significantly higher in FLNCtv patients (p < 0.01). Hereby, ring-like LGE was found in 16/19 (84%) FLNCtv versus 1/7 (14%) of TTNtv patients (p < 0.01). In conclusion, a large number of FLNCtv and TTNtv patients present with an ACM phenotype but can be separated by cardiac MRI. Whereas FLNCtv patients often have extensive myocardial fibrosis, typically following a ring-like pattern, LV dysfunction without or limited replacement fibrosis is the common TTNtv phenotype.
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