ArticleJACC. Case reports2026
Severe Pectus Excavatum: Unusual Cause of Sudden Cardiac Death Linked to a Novel Genetic Variant.
Article in JACC. Case reports, 2026. 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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12 authors.
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Abstract
backgroundSevere pectus excavatum is a rare cause of sudden cardiac death (SCD). CASE SUMMARY: A 44-year-old man with severe pectus excavatum presented with SCD due to ventricular fibrillation. Evaluation revealed a previously undiagnosed myxomatous bicuspid aortic valve with severe regurgitation and a small right coronary ostium compressed by the chest wall. Other causes of ventricular fibrillation were excluded. The patient underwent combined aortic valve replacement and pectus excavatum repair. Genetic testing identified a novel filamin A (FLNA) variant of uncertain significance (c.6616G>A; p.(Val2206Met)), potentially affecting protein function. DISCUSSION: To our knowledge, this is the first reported case suggesting a potential association between a FLNA gene variant and severe pectus excavatum with concomitant myxomatous valvular disease. TAKE-HOME MESSAGES: Severe pectus excavatum has been reported as a rare cause of SCD, but the underlying mechanisms remain unclear. A novel FLNA gene variant may provide additional insights in this case.
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