Severe Pectus Excavatum: Unusual Cause of Sudden Cardiac Death Linked to a Novel Genetic Variant.

BACKGROUND

Severe 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.