ArticleJACC. Case reports2025
Novel FLNC and TGFB3 Mutations in Early Onset Familial Atrial Fibrillation With Diastolic Dysfunction.
Article in JACC. Case reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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6 authors.
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Abstract
backgroundAtrial fibrillation (AF) may represent an early manifestation of underlying cardiomyopathies, particularly when accompanied by structural alterations in the left heart. Identifying the genetic basis of such presentations is essential for accurate diagnosis and family screening. CASE SUMMARY: We report a family presenting with early onset, familial AF without overt systemic disease. Echocardiographic evaluation revealed features suggestive of left ventricle diastolic dysfunction with a restrictive filling pattern. Targeted genetic testing identified 2 novel variants-FLNC c.2550 + 114T > A and TGFB3 c.927-128T > C in both the proband and affected siblings. DISCUSSION: This case suggests a potential association between FLNC c.2550 + 114T > A and TGFB3 c.927-128T > C variants and familial AF with restrictive diastolic physiology. The coexistence of these variants suggests possible synergistic effects on atrial structural remodeling. TAKE-HOME MESSAGE: Two novel variants-FLNC c.2550 + 114T > A and TGFB3 c.927-128T > C-were identified in a family with early onset AF and echocardiographic evidence suggestive of restrictive cardiomyopathy.
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